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Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)

 TNR6_HUMAN              Reviewed;         335 AA.
P25445; A9UJX4; B6VNV4; Q14292; Q14293; Q14294; Q14295; Q16652;
Q5T9P1; Q5T9P2; Q5T9P3; Q6SSE9;
01-MAY-1992, integrated into UniProtKB/Swiss-Prot.
01-MAY-1992, sequence version 1.
27-SEP-2017, entry version 220.
RecName: Full=Tumor necrosis factor receptor superfamily member 6;
AltName: Full=Apo-1 antigen;
AltName: Full=Apoptosis-mediating surface antigen FAS;
AltName: Full=FASLG receptor;
AltName: CD_antigen=CD95;
Flags: Precursor;
Name=FAS; Synonyms=APT1, FAS1, TNFRSF6;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=1713127; DOI=10.1016/0092-8674(91)90614-5;
Itoh N., Yonehara S., Ishii A., Yonehara M., Mizushima S.,
Sameshima M., Hase A., Seto Y., Nagata S.;
"The polypeptide encoded by the cDNA for human cell surface antigen
Fas can mediate apoptosis.";
Cell 66:233-243(1991).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND PROTEIN SEQUENCE OF
226-240; 269-291 AND 321-335.
PubMed=1375228;
Oehm A., Behrmann I., Falk W., Pawlita M., Maier G., Klas C.,
Li-Weber M., Richards S., Dhein J., Trauth B.C., Ponstingl H.,
Krammer P.H.;
"Purification and molecular cloning of the APO-1 cell surface antigen,
a member of the tumor necrosis factor/nerve growth factor receptor
superfamily. Sequence identity with the Fas antigen.";
J. Biol. Chem. 267:10709-10715(1992).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 6), AND TISSUE
SPECIFICITY.
PubMed=7575433; DOI=10.1042/bj3100957;
Liu C., Cheng J., Mountz J.D.;
"Differential expression of human Fas mRNA species upon peripheral
blood mononuclear cell activation.";
Biochem. J. 310:957-963(1995).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 6), AND FUNCTION.
PubMed=7533181;
Cascino I., Fiucci G., Papoff G., Ruberti G.;
"Three functional soluble forms of the human apoptosis-inducing Fas
molecule are produced by alternative splicing.";
J. Immunol. 154:2706-2713(1995).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
PubMed=8598453;
Cascino I., Papoff G., De Maria R., Testi R., Ruberti G.;
"Fas/Apo-1 (CD95) receptor lacking the intracytoplasmic signaling
domain protects tumor cells from Fas-mediated apoptosis.";
J. Immunol. 156:13-17(1996).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
PubMed=8648105;
Papoff G., Cascino I., Eramo A., Starace G., Lynch D.H., Ruberti G.;
"An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants
prevents cell death in vitro.";
J. Immunol. 156:4622-4630(1996).
[7]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ALPS1A SER-262.
PubMed=17336828; DOI=10.1016/j.imbio.2006.12.003;
Del-Rey M.J., Manzanares J., Bosque A., Aguilo J.I., Gomez-Rial J.,
Roldan E., Serrano A., Anel A., Paz-Artal E., Allende L.M.;
"Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a
new germline Fas gene mutation.";
Immunobiology 212:73-83(2007).
[8]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
TISSUE=Peripheral blood lymphocyte;
Schaetzlein C.E., Poehlmann R., Philippsen P., Eibel H.;
Submitted (JUN-1995) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
De La Calle-Martin O.;
Submitted (OCT-2008) to the EMBL/GenBank/DDBJ databases.
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-16; ILE-122 AND
ILE-305.
NIEHS SNPs program;
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
[12]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164054; DOI=10.1038/nature02462;
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[13]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[14]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Urinary bladder;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[15]
INTERACTION WITH RIPK1.
PubMed=7538908; DOI=10.1016/0092-8674(95)90072-1;
Stanger B.Z., Leder P., Lee T.-H., Kim E., Seed B.;
"RIP: a novel protein containing a death domain that interacts with
Fas/APO-1 (CD95) in yeast and causes cell death.";
Cell 81:513-523(1995).
[16]
INTERACTION WITH FEM1B.
PubMed=10542291; DOI=10.1074/jbc.274.45.32461;
Chan S.-L., Tan K.-O., Zhang L., Yee K.S.Y., Ronca F., Chan M.-Y.,
Yu V.C.;
"F1Aalpha, a death receptor-binding protein homologous to the
Caenorhabditis elegans sex-determining protein, FEM-1, is a caspase
substrate that mediates apoptosis.";
J. Biol. Chem. 274:32461-32468(1999).
[17]
INTERACTION WITH FAIM2.
PubMed=10535980; DOI=10.1073/pnas.96.22.12667;
Somia N.V., Schmitt M.J., Vetter D.E., Van Antwerp D., Heinemann S.F.,
Verma I.M.;
"LFG: an anti-apoptotic gene that provides protection from fas-
mediated cell death.";
Proc. Natl. Acad. Sci. U.S.A. 96:12667-12672(1999).
[18]
SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
Hillman R.T., Green R.E., Brenner S.E.;
"An unappreciated role for RNA surveillance.";
Genome Biol. 5:R8.1-R8.16(2004).
[19]
INTERACTION WITH BABAM2.
PubMed=15465831; DOI=10.1074/jbc.M408678200;
Li Q., Ching A.K.-K., Chan B.C.-L., Chow S.K.-Y., Lim P.-L.,
Ho T.C.-Y., Ip W.-K., Wong C.-K., Lam C.W.-K., Lee K.K.-H.,
Chan J.Y.-H., Chui Y.-L.;
"A death receptor-associated anti-apoptotic protein, BRE, inhibits
mitochondrial apoptotic pathway.";
J. Biol. Chem. 279:52106-52116(2004).
[20]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
Greff Z., Keri G., Stemmann O., Mann M.;
"Kinase-selective enrichment enables quantitative phosphoproteomics of
the kinome across the cell cycle.";
Mol. Cell 31:438-448(2008).
[21]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[22]
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-118.
TISSUE=Liver;
PubMed=19159218; DOI=10.1021/pr8008012;
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
"Glycoproteomics analysis of human liver tissue by combination of
multiple enzyme digestion and hydrazide chemistry.";
J. Proteome Res. 8:651-661(2009).
[23]
INTERACTION WITH FADD.
PubMed=21109225; DOI=10.1016/j.ajhg.2010.10.028;
Bolze A., Byun M., McDonald D., Morgan N.V., Abhyankar A.,
Premkumar L., Puel A., Bacon C.M., Rieux-Laucat F., Pang K.,
Britland A., Abel L., Cant A., Maher E.R., Riedl S.J., Hambleton S.,
Casanova J.L.;
"Whole-exome-sequencing-based discovery of human FADD deficiency.";
Am. J. Hum. Genet. 87:873-881(2010).
[24]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=20068231; DOI=10.1126/scisignal.2000475;
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
Mann M.;
"Quantitative phosphoproteomics reveals widespread full
phosphorylation site occupancy during mitosis.";
Sci. Signal. 3:RA3-RA3(2010).
[25]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[26]
GLYCOSYLATION AT THR-28, STRUCTURE OF CARBOHYDRATES, AND
IDENTIFICATION BY MASS SPECTROMETRY.
PubMed=22171320; DOI=10.1074/mcp.M111.013649;
Halim A., Nilsson J., Ruetschi U., Hesse C., Larson G.;
"Human urinary glycoproteomics; attachment site specific analysis of
N-and O-linked glycosylations by CID and ECD.";
Mol. Cell. Proteomics 0:0-0(2011).
[27]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-225, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[28]
STRUCTURE BY NMR OF 218-335.
PubMed=8967952; DOI=10.1038/384638a0;
Huang B., Eberstadt M., Olejniczak E.T., Meadows R.P., Fesik S.W.;
"NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain.";
Nature 384:638-641(1996).
[29]
X-RAY CRYSTALLOGRAPHY (2.73 ANGSTROMS) OF 223-335 IN COMPLEX WITH
FADD, FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, AND MUTAGENESIS OF
TYR-291 AND ILE-313.
PubMed=19118384; DOI=10.1038/nature07606;
Scott F.L., Stec B., Pop C., Dobaczewska M.K., Lee J.J., Monosov E.,
Robinson H., Salvesen G.S., Schwarzenbacher R., Riedl S.J.;
"The Fas-FADD death domain complex structure unravels signalling by
receptor clustering.";
Nature 457:1019-1022(2009).
[30]
X-RAY CRYSTALLOGRAPHY (2.40 ANGSTROMS) OF 230-254 IN COMPLEX WITH
CALM, AND CALMODULIN-BINDING.
PubMed=24914971; DOI=10.1107/S1399004714006919;
Jiang T., Cao P., Gong Y., Yu H.J., Gui W.J., Zhang W.T.;
"Structural insights into the mechanism of calmodulin binding to death
receptors.";
Acta Crystallogr. D 70:1604-1613(2014).
[31]
VARIANT ALPS1A PRO-241.
PubMed=7540117; DOI=10.1016/0092-8674(95)90013-6;
Fisher G.H., Rosenberg F.J., Straus S.E., Dale J.K., Middleton L.A.,
Lin A.Y., Strober W., Lenardo M.J., Puck J.M.;
"Dominant interfering Fas gene mutations impair apoptosis in a human
autoimmune lymphoproliferative syndrome.";
Cell 81:935-946(1995).
[32]
VARIANT ALPS1A TYR-260.
PubMed=8929361; DOI=10.1056/NEJM199611283352204;
Drappa J., Vaishnaw A.K., Sullivan K.E., Chu J.-L., Elkon K.B.;
"Fas gene mutations in the Canale-Smith syndrome, an inherited
lymphoproliferative disorder associated with autoimmunity.";
N. Engl. J. Med. 335:1643-1649(1996).
[33]
VARIANTS ALPS1A TRP-121 AND CYS-232.
PubMed=9028321;
Bettinardi A., Brugnoni D., Quiros-Roldan E., Malagoli A.,
La Grutta S., Correra A., Notarangelo L.D.;
"Missense mutations in the Fas gene resulting in autoimmune
lymphoproliferative syndrome: a molecular and immunological
analysis.";
Blood 89:902-909(1997).
[34]
VARIANTS ALPS1A ASP-257 AND SER-310.
PubMed=9028957;
Sneller M.C., Wang J., Dale J.K., Strober W., Middelton L.A., Choi Y.,
Fleisher T.A., Lim M.S., Jaffe E.S., Puck J.M., Lenardo M.J.,
Straus S.E.;
"Clinical, immunologic, and genetic features of an autoimmune
lymphoproliferative syndrome associated with abnormal lymphocyte
apoptosis.";
Blood 89:1341-1348(1997).
[35]
VARIANT ALPS1A ALA-28.
PubMed=9322534; DOI=10.1053/gast.1997.v113.pm9322534;
Pensati L., Costanzo A., Ianni A., Accapezzato D., Iorio R.,
Natoli G., Nisini R., Almerighi C., Balsano C., Vajro P., Vegnente A.,
Levrero M.;
"Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a
patient with type 2 autoimmune hepatitis.";
Gastroenterology 113:1384-1389(1997).
[36]
VARIANTS NON-HODGKIN LYMPHOMA THR-25; PHE-180; LEU-183; ILE-198;
VAL-260; LYS-264; LYS-272; PHE-278 AND ASN-299.
PubMed=9787134;
Groenbaek K., Straten P.T., Ralfkiaer E., Ahrenkiel V., Andersen M.K.,
Hansen N.E., Zeuthen J., Hou-Jensen K., Guldberg P.;
"Somatic Fas mutations in non-Hodgkin's lymphoma: association with
extranodal disease and autoimmunity.";
Blood 92:3018-3024(1998).
[37]
VARIANT ALPS1A VAL-260.
PubMed=9821419; DOI=10.1016/S0022-3476(98)70102-7;
Infante A.J., Britton H.A., DeNapoli T., Middelton L.A., Lenardo M.J.,
Jackson C.E., Wang J., Fleisher T., Straus S.E., Puck J.M.;
"The clinical spectrum in a large kindred with autoimmune
lymphoproliferative syndrome caused by a Fas mutation that impairs
lymphocyte apoptosis.";
J. Pediatr. 133:629-633(1998).
[38]
VARIANTS ALPS1A LYS-241 AND GLN-250.
PubMed=10090885; DOI=10.1086/302333;
Jackson C.E., Fischer R.E., Hsu A.P., Anderson S.M., Choi Y., Wang J.,
Dale J.K., Fleisher T.A., Middelton L.A., Sneller M.C., Lenardo M.J.,
Straus S.E., Puck J.M.;
"Autoimmune lymphoproliferative syndrome with defective Fas: genotype
influences penetrance.";
Am. J. Hum. Genet. 64:1002-1014(1999).
[39]
VARIANTS ALPS1A LEU-249; PRO-250; ASP-253; SER-253; ARG-259; LYS-270
AND LYS-272.
PubMed=10515860;
Rieux-Laucat F., Blachere S., Danielan S., De Villartay J.P.,
Oleastro M., Solary E., Bader-Meunier B., Arkwright P., Pondare C.,
Bernaudin F., Chapel H., Nielsen S., Berrah M., Fischer A.,
Le Deist F.;
"Lymphoproliferative syndrome with autoimmunity: A possible genetic
basis for dominant expression of the clinical manifestations.";
Blood 94:2575-2582(1999).
[40]
VARIANT ALPS1A GLY-272.
PubMed=10340403; DOI=10.1016/S0301-472X(99)00033-8;
Peters A.M., Kohfink B., Martin H., Griesinger F., Wormann B.,
Gahr M., Roesler J.;
"Defective apoptosis due to a point mutation in the death domain of
CD95 associated with autoimmune lymphoproliferative syndrome, T-cell
lymphoma, and Hodgkin's disease.";
Exp. Hematol. 27:868-874(1999).
[41]
VARIANTS ALPS1A ARG-82; PRO-250; GLY-260 AND ILE-270.
PubMed=9927496; DOI=10.1172/JCI5121;
Vaishnaw A.K., Orlinick J.R., Chu J.-L., Krammer P.H., Chao M.V.,
Elkon K.B.;
"The molecular basis for apoptotic defects in patients with CD95
(Fas/Apo-1) mutations.";
J. Clin. Invest. 103:355-363(1999).
[42]
VARIANTS SQUAMOUS CELL CARCINOMA SER-118; ARG-178 AND ASP-255.
PubMed=10620127; DOI=10.1046/j.1523-1747.2000.00819.x;
Lee S.H., Shin M.S., Kim H.S., Park W.S., Kim S.Y., Jang J.J.,
Rhim K.J., Jang J., Lee H.K., Park J.Y., Oh R.R., Han S.Y., Lee J.H.,
Lee J.Y., Yoo N.J.;
"Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell
carcinoma arising from a burn scar.";
J. Invest. Dermatol. 114:122-126(2000).
[43]
VARIANTS ALPS1A PRO-241; VAL-260; ILE-270 AND GLY-272.
PubMed=11418480; DOI=10.1182/blood.V98.1.194;
Straus S.E., Jaffe E.S., Puck J.M., Dale J.K., Elkon K.B.,
Roesen-Wolff A., Peters A.M.J., Sneller M.C., Hallahan C.W., Wang J.,
Fischer R.E., Jackson C.M., Lin A.Y., Baeumler C., Siegert E.,
Marx A., Vaishnaw A.K., Grodzicky T., Fleisher T.A., Lenardo M.J.;
"The development of lymphomas in families with autoimmune
lymphoproliferative syndrome with germline Fas mutations and defective
lymphocyte apoptosis.";
Blood 98:194-200(2001).
[44]
CHARACTERIZATION OF VARIANTS ALPS1A CYS-232; GLN-250; ASP-257;
TYR-260; VAL-260; LYS-270 AND LYS-272, AND MUTAGENESIS OF ARG-250;
GLU-261; GLN-283 AND LYS-287.
PubMed=20935634; DOI=10.1038/nsmb.1920;
Wang L., Yang J.K., Kabaleeswaran V., Rice A.J., Cruz A.C., Park A.Y.,
Yin Q., Damko E., Jang S.B., Raunser S., Robinson C.V., Siegel R.M.,
Walz T., Wu H.;
"The Fas-FADD death domain complex structure reveals the basis of DISC
assembly and disease mutations.";
Nat. Struct. Mol. Biol. 17:1324-1329(2010).
-!- FUNCTION: Receptor for TNFSF6/FASLG. The adapter molecule FADD
recruits caspase-8 to the activated receptor. The resulting death-
inducing signaling complex (DISC) performs caspase-8 proteolytic
activation which initiates the subsequent cascade of caspases
(aspartate-specific cysteine proteases) mediating apoptosis. FAS-
mediated apoptosis may have a role in the induction of peripheral
tolerance, in the antigen-stimulated suicide of mature T-cells, or
both. The secreted isoforms 2 to 6 block apoptosis (in vitro).
{ECO:0000269|PubMed:19118384, ECO:0000269|PubMed:7533181}.
-!- SUBUNIT: Binds DAXX. Interacts with HIPK3. Part of a complex
containing HIPK3 and FADD (By similarity). Binds RIPK1 and FAIM2
(PubMed:7538908, PubMed:10535980). Interacts with BABAM2 and FEM1B
(PubMed:10542291, PubMed:15465831). Interacts with FADD
(PubMed:21109225, PubMed:19118384). Interacts directly (via DED
domain) with NOL3 (via CARD domain); inhibits death-inducing
signaling complex (DISC) assembly by inhibiting the increase in
FAS-FADD binding induced by FAS activation (By similarity).
Interacts with CALM (PubMed:24914971).
{ECO:0000250|UniProtKB:Q63199, ECO:0000269|PubMed:10535980,
ECO:0000269|PubMed:10542291, ECO:0000269|PubMed:15465831,
ECO:0000269|PubMed:19118384, ECO:0000269|PubMed:21109225,
ECO:0000269|PubMed:24914971, ECO:0000269|PubMed:7538908}.
-!- INTERACTION:
Self; NbExp=3; IntAct=EBI-494743, EBI-494743;
P62158:CALM3; NbExp=4; IntAct=EBI-494743, EBI-397435;
Q14790:CASP8; NbExp=15; IntAct=EBI-494743, EBI-78060;
Q03135:CAV1; NbExp=3; IntAct=EBI-494743, EBI-603614;
Q9UER7:DAXX; NbExp=3; IntAct=EBI-494743, EBI-77321;
Q13158:FADD; NbExp=34; IntAct=EBI-494743, EBI-494804;
P48023:FASLG; NbExp=4; IntAct=EBI-494743, EBI-495538;
Q99683:MAP3K5; NbExp=2; IntAct=EBI-494743, EBI-476263;
P12815:Pdcd6 (xeno); NbExp=2; IntAct=EBI-494743, EBI-309164;
P29590:PML; NbExp=4; IntAct=EBI-494743, EBI-295890;
Q15156:PML-RAR; NbExp=6; IntAct=EBI-494743, EBI-867256;
Q12923:PTPN13; NbExp=3; IntAct=EBI-494743, EBI-355227;
P12931:SRC; NbExp=2; IntAct=EBI-494743, EBI-621482;
-!- SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I
membrane protein.
-!- SUBCELLULAR LOCATION: Isoform 2: Secreted.
-!- SUBCELLULAR LOCATION: Isoform 3: Secreted.
-!- SUBCELLULAR LOCATION: Isoform 4: Secreted.
-!- SUBCELLULAR LOCATION: Isoform 5: Secreted.
-!- SUBCELLULAR LOCATION: Isoform 6: Secreted.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=7;
Name=1;
IsoId=P25445-1; Sequence=Displayed;
Name=2; Synonyms=del2, D;
IsoId=P25445-2; Sequence=VSP_006481, VSP_006482;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay.;
Name=3; Synonyms=del3, E;
IsoId=P25445-3; Sequence=VSP_006483, VSP_006484;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay.;
Name=4; Synonyms=B;
IsoId=P25445-4; Sequence=VSP_006485, VSP_006486;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay.;
Name=5; Synonyms=C;
IsoId=P25445-5; Sequence=VSP_006487, VSP_006488;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay.;
Name=6; Synonyms=TMdel, A;
IsoId=P25445-6; Sequence=VSP_006489;
Name=7; Synonyms=FasExo8Del;
IsoId=P25445-7; Sequence=VSP_045235, VSP_045236;
Note=Dominant negative isoform, resistant to Fas-mediated
apoptosis.;
-!- TISSUE SPECIFICITY: Isoform 1 and isoform 6 are expressed at equal
levels in resting peripheral blood mononuclear cells. After
activation there is an increase in isoform 1 and decrease in the
levels of isoform 6. {ECO:0000269|PubMed:7575433}.
-!- DOMAIN: Contains a death domain involved in the binding of FADD,
and maybe to other cytosolic adapter proteins.
-!- PTM: N- and O-glycosylated. O-glycosylated with core 1 or possibly
core 8 glycans. {ECO:0000269|PubMed:19159218,
ECO:0000269|PubMed:22171320}.
-!- DISEASE: Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
[MIM:601859]: A disorder of apoptosis that manifests in early
childhood and results in the accumulation of autoreactive
lymphocytes. It is characterized by non-malignant lymphadenopathy
with hepatosplenomegaly, and autoimmune hemolytic anemia,
thrombocytopenia and neutropenia. {ECO:0000269|PubMed:10090885,
ECO:0000269|PubMed:10340403, ECO:0000269|PubMed:10515860,
ECO:0000269|PubMed:11418480, ECO:0000269|PubMed:17336828,
ECO:0000269|PubMed:20935634, ECO:0000269|PubMed:7540117,
ECO:0000269|PubMed:8929361, ECO:0000269|PubMed:9028321,
ECO:0000269|PubMed:9028957, ECO:0000269|PubMed:9322534,
ECO:0000269|PubMed:9821419, ECO:0000269|PubMed:9927496}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- WEB RESOURCE: Name=Autoimmune Lymphoproliferative Syndrome
Database (ALPSbase); Note=Mutations in TNFRSF6 causing ALPS type
Ia;
URL="https://www.niaid.nih.gov/diseases-conditions/autoimmune-lymphoproliferative-syndrome-alps";
-!- WEB RESOURCE: Name=NIEHS-SNPs;
URL="http://egp.gs.washington.edu/data/tnfrsf6/";
-----------------------------------------------------------------------
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EMBL; M67454; AAA63174.1; -; mRNA.
EMBL; X63717; CAA45250.1; -; mRNA.
EMBL; X83490; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; X83491; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; X83492; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; X83493; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; Z47993; CAA88031.1; -; mRNA.
EMBL; Z47994; CAA88032.1; -; mRNA.
EMBL; Z47995; CAA88033.1; -; mRNA.
EMBL; Z66556; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; Z70519; CAA94430.1; -; mRNA.
EMBL; Z70520; CAA94431.1; -; mRNA.
EMBL; AY495076; AAS76663.1; -; mRNA.
EMBL; X89101; CAA61473.1; -; mRNA.
EMBL; FM246458; CAR92543.1; -; mRNA.
EMBL; AK290978; BAF83667.1; -; mRNA.
EMBL; AY450925; AAR08906.1; -; Genomic_DNA.
EMBL; AL157394; CAI13870.1; -; Genomic_DNA.
EMBL; AL157394; CAI13871.1; -; Genomic_DNA.
EMBL; AL157394; CAI13872.1; -; Genomic_DNA.
EMBL; CH471066; EAW50151.1; -; Genomic_DNA.
EMBL; BC012479; AAH12479.1; -; mRNA.
CCDS; CCDS7393.1; -. [P25445-1]
CCDS; CCDS7394.1; -. [P25445-6]
CCDS; CCDS7395.1; -. [P25445-7]
PIR; A40036; A40036.
PIR; I37383; I37383.
PIR; I37384; I37384.
PIR; S58662; S58662.
RefSeq; NP_000034.1; NM_000043.5. [P25445-1]
RefSeq; NP_001307548.1; NM_001320619.1.
RefSeq; NP_690610.1; NM_152871.3. [P25445-6]
RefSeq; NP_690611.1; NM_152872.3. [P25445-7]
UniGene; Hs.244139; -.
UniGene; Hs.667309; -.
PDB; 1BZI; Model; -; A=1-335.
PDB; 1DDF; NMR; -; A=218-335.
PDB; 2NA7; NMR; -; A/B/C=171-198.
PDB; 3EWT; X-ray; 2.40 A; E=230-254.
PDB; 3EZQ; X-ray; 2.73 A; A/C/E/G/I/K/M/O=223-335.
PDB; 3THM; X-ray; 2.10 A; F=17-172.
PDB; 3TJE; X-ray; 1.93 A; F=17-172.
PDBsum; 1BZI; -.
PDBsum; 1DDF; -.
PDBsum; 2NA7; -.
PDBsum; 3EWT; -.
PDBsum; 3EZQ; -.
PDBsum; 3THM; -.
PDBsum; 3TJE; -.
ProteinModelPortal; P25445; -.
SMR; P25445; -.
BioGrid; 106851; 104.
CORUM; P25445; -.
DIP; DIP-924N; -.
IntAct; P25445; 49.
MINT; MINT-146256; -.
STRING; 9606.ENSP00000347979; -.
iPTMnet; P25445; -.
PhosphoSitePlus; P25445; -.
SwissPalm; P25445; -.
UniCarbKB; P25445; -.
BioMuta; FAS; -.
DMDM; 119833; -.
EPD; P25445; -.
MaxQB; P25445; -.
PaxDb; P25445; -.
PeptideAtlas; P25445; -.
PRIDE; P25445; -.
TopDownProteomics; P25445-7; -. [P25445-7]
DNASU; 355; -.
Ensembl; ENST00000355279; ENSP00000347426; ENSG00000026103. [P25445-7]
Ensembl; ENST00000355740; ENSP00000347979; ENSG00000026103. [P25445-1]
Ensembl; ENST00000357339; ENSP00000349896; ENSG00000026103. [P25445-6]
Ensembl; ENST00000479522; ENSP00000424113; ENSG00000026103. [P25445-3]
Ensembl; ENST00000484444; ENSP00000420975; ENSG00000026103. [P25445-2]
Ensembl; ENST00000488877; ENSP00000425159; ENSG00000026103. [P25445-4]
Ensembl; ENST00000492756; ENSP00000422453; ENSG00000026103. [P25445-5]
Ensembl; ENST00000494410; ENSP00000423755; ENSG00000026103. [P25445-4]
GeneID; 355; -.
KEGG; hsa:355; -.
UCSC; uc001kfr.4; human. [P25445-1]
CTD; 355; -.
DisGeNET; 355; -.
EuPathDB; HostDB:ENSG00000026103.19; -.
GeneCards; FAS; -.
GeneReviews; FAS; -.
HGNC; HGNC:11920; FAS.
HPA; HPA027444; -.
MalaCards; FAS; -.
MIM; 134637; gene.
MIM; 601859; phenotype.
neXtProt; NX_P25445; -.
OpenTargets; ENSG00000026103; -.
Orphanet; 3261; Autoimmune lymphoproliferative syndrome.
Orphanet; 85408; Juvenile rheumatoid factor-negative polyarthritis.
Orphanet; 85410; Oligoarticular juvenile arthritis.
PharmGKB; PA36613; -.
eggNOG; ENOG410J23A; Eukaryota.
eggNOG; ENOG4112ADB; LUCA.
GeneTree; ENSGT00730000111280; -.
HOGENOM; HOG000139681; -.
HOVERGEN; HBG004091; -.
InParanoid; P25445; -.
KO; K04390; -.
OMA; CTTCEHG; -.
OrthoDB; EOG091G0DU6; -.
PhylomeDB; P25445; -.
TreeFam; TF333916; -.
Reactome; R-HSA-140534; Ligand-dependent caspase activation.
Reactome; R-HSA-3371378; Regulation by c-FLIP.
Reactome; R-HSA-5213460; RIPK1-mediated regulated necrosis.
Reactome; R-HSA-5218900; CASP8 activity is inhibited.
Reactome; R-HSA-6803211; TP53 Regulates Transcription of Death Receptors and Ligands.
Reactome; R-HSA-69416; Dimerization of procaspase-8.
Reactome; R-HSA-75157; FasL/ CD95L signaling.
SIGNOR; P25445; -.
EvolutionaryTrace; P25445; -.
GeneWiki; Fas_receptor; -.
GenomeRNAi; 355; -.
PMAP-CutDB; P25445; -.
PRO; PR:P25445; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000026103; -.
CleanEx; HS_FAS; -.
ExpressionAtlas; P25445; baseline and differential.
Genevisible; P25445; HS.
GO; GO:0031265; C:CD95 death-inducing signaling complex; IDA:UniProtKB.
GO; GO:0009986; C:cell surface; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0031264; C:death-inducing signaling complex; IDA:UniProtKB.
GO; GO:0009897; C:external side of plasma membrane; IEA:Ensembl.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0045121; C:membrane raft; IDA:UniProtKB.
GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
GO; GO:0016604; C:nuclear body; IDA:HPA.
GO; GO:0005886; C:plasma membrane; IDA:HPA.
GO; GO:0005516; F:calmodulin binding; IDA:UniProtKB.
GO; GO:0042802; F:identical protein binding; IPI:IntAct.
GO; GO:0019900; F:kinase binding; IPI:BHF-UCL.
GO; GO:0004872; F:receptor activity; TAS:ProtInc.
GO; GO:0004871; F:signal transducer activity; TAS:ProtInc.
GO; GO:0043120; F:tumor necrosis factor binding; IBA:GO_Central.
GO; GO:0005031; F:tumor necrosis factor-activated receptor activity; IBA:GO_Central.
GO; GO:0006919; P:activation of cysteine-type endopeptidase activity involved in apoptotic process; TAS:Reactome.
GO; GO:0097296; P:activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway; TAS:Reactome.
GO; GO:0006924; P:activation-induced cell death of T cells; IEA:Ensembl.
GO; GO:0006915; P:apoptotic process; IDA:MGI.
GO; GO:0097190; P:apoptotic signaling pathway; TAS:Reactome.
GO; GO:0019724; P:B cell mediated immunity; IEA:Ensembl.
GO; GO:0034198; P:cellular response to amino acid starvation; IMP:CAFA.
GO; GO:0071455; P:cellular response to hyperoxia; IMP:UniProtKB.
GO; GO:0071285; P:cellular response to lithium ion; IEA:Ensembl.
GO; GO:0071260; P:cellular response to mechanical stimulus; IEP:UniProtKB.
GO; GO:0007623; P:circadian rhythm; IEA:Ensembl.
GO; GO:0097191; P:extrinsic apoptotic signaling pathway; IMP:UniProtKB.
GO; GO:0097192; P:extrinsic apoptotic signaling pathway in absence of ligand; IEA:Ensembl.
GO; GO:0008625; P:extrinsic apoptotic signaling pathway via death domain receptors; IEA:Ensembl.
GO; GO:0036337; P:Fas signaling pathway; IMP:CAFA.
GO; GO:0010467; P:gene expression; IEA:Ensembl.
GO; GO:0097284; P:hepatocyte apoptotic process; IEA:Ensembl.
GO; GO:0006955; P:immune response; IBA:GO_Central.
GO; GO:0002377; P:immunoglobulin production; IEA:Ensembl.
GO; GO:0006925; P:inflammatory cell apoptotic process; IEA:Ensembl.
GO; GO:0006954; P:inflammatory response; IBA:GO_Central.
GO; GO:0097049; P:motor neuron apoptotic process; IEA:Ensembl.
GO; GO:0007275; P:multicellular organism development; IBA:GO_Central.
GO; GO:0097527; P:necroptotic signaling pathway; IMP:BHF-UCL.
GO; GO:0043066; P:negative regulation of apoptotic process; TAS:ProtInc.
GO; GO:0050869; P:negative regulation of B cell activation; IEA:Ensembl.
GO; GO:1902042; P:negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; TAS:Reactome.
GO; GO:0045060; P:negative thymic T cell selection; IEA:Ensembl.
GO; GO:0043065; P:positive regulation of apoptotic process; IDA:UniProtKB.
GO; GO:2001235; P:positive regulation of apoptotic signaling pathway; IMP:CAFA.
GO; GO:2001269; P:positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway; IMP:CAFA.
GO; GO:2001241; P:positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; IEA:Ensembl.
GO; GO:0070230; P:positive regulation of lymphocyte apoptotic process; IEA:Ensembl.
GO; GO:0032464; P:positive regulation of protein homooligomerization; IEA:Ensembl.
GO; GO:0001934; P:positive regulation of protein phosphorylation; IMP:CAFA.
GO; GO:0006461; P:protein complex assembly; TAS:ProtInc.
GO; GO:0051260; P:protein homooligomerization; IEA:Ensembl.
GO; GO:0042981; P:regulation of apoptotic process; TAS:Reactome.
GO; GO:0042127; P:regulation of cell proliferation; IBA:GO_Central.
GO; GO:1902041; P:regulation of extrinsic apoptotic signaling pathway via death domain receptors; TAS:Reactome.
GO; GO:0045619; P:regulation of lymphocyte differentiation; IEA:Ensembl.
GO; GO:0045637; P:regulation of myeloid cell differentiation; IEA:Ensembl.
GO; GO:0032872; P:regulation of stress-activated MAPK cascade; IMP:CAFA.
GO; GO:0003014; P:renal system process; IEA:Ensembl.
GO; GO:0051384; P:response to glucocorticoid; IEA:Ensembl.
GO; GO:0032496; P:response to lipopolysaccharide; IBA:GO_Central.
GO; GO:0009636; P:response to toxic substance; IEA:Ensembl.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
GO; GO:0048536; P:spleen development; IEA:Ensembl.
CDD; cd08316; Death_FAS_TNFRSF6; 1.
CDD; cd10579; TNFRSF6; 1.
InterPro; IPR011029; DEATH-like_dom.
InterPro; IPR000488; Death_domain.
InterPro; IPR008063; Fas_rcpt.
InterPro; IPR001368; TNFR/NGFR_Cys_rich_reg.
InterPro; IPR033998; TNFRSF6_death.
InterPro; IPR033999; TNFRSF6_N.
PANTHER; PTHR23097:SF158; PTHR23097:SF158; 1.
Pfam; PF00531; Death; 1.
Pfam; PF00020; TNFR_c6; 2.
PRINTS; PR01680; TNFACTORR6.
SMART; SM00005; DEATH; 1.
SMART; SM00208; TNFR; 3.
SUPFAM; SSF47986; SSF47986; 1.
PROSITE; PS50017; DEATH_DOMAIN; 1.
PROSITE; PS00652; TNFR_NGFR_1; 2.
PROSITE; PS50050; TNFR_NGFR_2; 2.
1: Evidence at protein level;
3D-structure; Alternative splicing; Apoptosis; Calmodulin-binding;
Cell membrane; Complete proteome; Direct protein sequencing;
Disease mutation; Disulfide bond; Glycoprotein; Membrane;
Phosphoprotein; Polymorphism; Receptor; Reference proteome; Repeat;
Secreted; Signal; Transmembrane; Transmembrane helix.
SIGNAL 1 25 {ECO:0000255}.
CHAIN 26 335 Tumor necrosis factor receptor
superfamily member 6.
/FTId=PRO_0000034563.
TOPO_DOM 26 173 Extracellular. {ECO:0000255}.
TRANSMEM 174 190 Helical. {ECO:0000255}.
TOPO_DOM 191 335 Cytoplasmic. {ECO:0000255}.
REPEAT 47 83 TNFR-Cys 1.
REPEAT 84 127 TNFR-Cys 2.
REPEAT 128 166 TNFR-Cys 3.
DOMAIN 230 314 Death. {ECO:0000255|PROSITE-
ProRule:PRU00064}.
REGION 212 317 Interaction with HIPK3. {ECO:0000250}.
REGION 230 254 Interaction with CALM.
{ECO:0000269|PubMed:24914971}.
MOD_RES 209 209 Phosphoserine.
{ECO:0000244|PubMed:18669648}.
MOD_RES 214 214 Phosphothreonine.
{ECO:0000250|UniProtKB:P25446}.
MOD_RES 225 225 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
CARBOHYD 28 28 O-linked (GalNAc...) threonine.
{ECO:0000269|PubMed:22171320}.
CARBOHYD 118 118 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19159218}.
CARBOHYD 136 136 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 59 73 {ECO:0000255|PROSITE-ProRule:PRU00206}.
DISULFID 63 82 {ECO:0000255|PROSITE-ProRule:PRU00206}.
DISULFID 85 101 {ECO:0000255|PROSITE-ProRule:PRU00206}.
DISULFID 104 119 {ECO:0000255|PROSITE-ProRule:PRU00206}.
DISULFID 107 127 {ECO:0000255|PROSITE-ProRule:PRU00206}.
DISULFID 129 143 {ECO:0000255|PROSITE-ProRule:PRU00206}.
DISULFID 146 157 {ECO:0000255|PROSITE-ProRule:PRU00206}.
DISULFID 149 165 {ECO:0000255|PROSITE-ProRule:PRU00206}.
VAR_SEQ 66 103 GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRR ->
DVNMESSRNAHSPATPSAKRKDPDLTWGGFVFFFCQFH
(in isoform 2).
{ECO:0000303|PubMed:7533181,
ECO:0000303|PubMed:7575433}.
/FTId=VSP_006481.
VAR_SEQ 66 86 GERKARDCTVNGDEPDCVPCQ -> DVNMESSRNAHSPATP
SAKRK (in isoform 3).
{ECO:0000303|PubMed:7533181,
ECO:0000303|PubMed:7575433}.
/FTId=VSP_006483.
VAR_SEQ 87 335 Missing (in isoform 3).
{ECO:0000303|PubMed:7533181,
ECO:0000303|PubMed:7575433}.
/FTId=VSP_006484.
VAR_SEQ 104 335 Missing (in isoform 2).
{ECO:0000303|PubMed:7533181,
ECO:0000303|PubMed:7575433}.
/FTId=VSP_006482.
VAR_SEQ 112 149 GLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKC ->
DVNMESSRNAHSPATPSAKRKDPDLTWGGFVFFFCQFH
(in isoform 4).
{ECO:0000303|PubMed:7575433,
ECO:0000303|PubMed:8648105}.
/FTId=VSP_006485.
VAR_SEQ 112 132 GLEVEINCTRTQNTKCRCKPN -> DVNMESSRNAHSPATP
SAKRK (in isoform 5).
{ECO:0000303|PubMed:8648105,
ECO:0000303|Ref.8}.
/FTId=VSP_006487.
VAR_SEQ 133 335 Missing (in isoform 5).
{ECO:0000303|PubMed:8648105,
ECO:0000303|Ref.8}.
/FTId=VSP_006488.
VAR_SEQ 150 335 Missing (in isoform 4).
{ECO:0000303|PubMed:7575433,
ECO:0000303|PubMed:8648105}.
/FTId=VSP_006486.
VAR_SEQ 169 189 Missing (in isoform 6).
{ECO:0000303|PubMed:7533181,
ECO:0000303|PubMed:7575433}.
/FTId=VSP_006489.
VAR_SEQ 218 220 ETV -> MLT (in isoform 7).
{ECO:0000303|PubMed:8598453}.
/FTId=VSP_045235.
VAR_SEQ 221 335 Missing (in isoform 7).
{ECO:0000303|PubMed:8598453}.
/FTId=VSP_045236.
VARIANT 16 16 A -> T (in dbSNP:rs3218619).
{ECO:0000269|Ref.11}.
/FTId=VAR_020008.
VARIANT 25 25 A -> T (in non-Hodgkin lymphoma; somatic
mutation; dbSNP:rs606231364).
{ECO:0000269|PubMed:9787134}.
/FTId=VAR_013416.
VARIANT 28 28 T -> A (in ALPS1A; associated with
autoimmune hepatitis type 2).
{ECO:0000269|PubMed:9322534}.
/FTId=VAR_013417.
VARIANT 82 82 C -> R (in ALPS1A).
{ECO:0000269|PubMed:9927496}.
/FTId=VAR_013418.
VARIANT 118 118 N -> S (in squamous cell carcinoma; burn-
scar related; somatic mutation;
dbSNP:rs121913083).
{ECO:0000269|PubMed:10620127}.
/FTId=VAR_018321.
VARIANT 121 121 R -> W (in ALPS1A; dbSNP:rs121913078).
{ECO:0000269|PubMed:9028321}.
/FTId=VAR_013419.
VARIANT 122 122 T -> I (in dbSNP:rs3218614).
{ECO:0000269|Ref.11}.
/FTId=VAR_020009.
VARIANT 178 178 C -> R (in squamous cell carcinoma; burn-
scar related; somatic mutation;
dbSNP:rs121913084).
{ECO:0000269|PubMed:10620127}.
/FTId=VAR_018322.
VARIANT 180 180 L -> F (in non-Hodgkin lymphoma; somatic
mutation). {ECO:0000269|PubMed:9787134}.
/FTId=VAR_013420.
VARIANT 183 183 P -> L (in non-Hodgkin lymphoma; somatic
mutation; dbSNP:rs758835365).
{ECO:0000269|PubMed:9787134}.
/FTId=VAR_013421.
VARIANT 184 184 I -> V (in dbSNP:rs28362322).
/FTId=VAR_052347.
VARIANT 198 198 T -> I (in non-Hodgkin lymphoma; somatic
mutation). {ECO:0000269|PubMed:9787134}.
/FTId=VAR_013422.
VARIANT 232 232 Y -> C (in ALPS1A; no effect on
interaction with FADD;
dbSNP:rs121913079).
{ECO:0000269|PubMed:20935634,
ECO:0000269|PubMed:9028321}.
/FTId=VAR_013423.
VARIANT 241 241 T -> K (in ALPS1A; dbSNP:rs201072885).
{ECO:0000269|PubMed:10090885}.
/FTId=VAR_013424.
VARIANT 241 241 T -> P (in ALPS1A; dbSNP:rs121913076).
{ECO:0000269|PubMed:11418480,
ECO:0000269|PubMed:7540117}.
/FTId=VAR_013425.
VARIANT 249 249 V -> L (in ALPS1A).
{ECO:0000269|PubMed:10515860}.
/FTId=VAR_065128.
VARIANT 250 250 R -> P (in ALPS1A; dbSNP:rs121913080).
{ECO:0000269|PubMed:10515860,
ECO:0000269|PubMed:9927496}.
/FTId=VAR_013426.
VARIANT 250 250 R -> Q (in ALPS1A; no effect on
interaction with FADD).
{ECO:0000269|PubMed:10090885,
ECO:0000269|PubMed:20935634}.
/FTId=VAR_013427.
VARIANT 253 253 G -> D (in ALPS1A).
{ECO:0000269|PubMed:10515860}.
/FTId=VAR_065129.
VARIANT 253 253 G -> S (in ALPS1A).
{ECO:0000269|PubMed:10515860}.
/FTId=VAR_065130.
VARIANT 255 255 N -> D (in squamous cell carcinoma; burn-
scar related; somatic mutation;
dbSNP:rs121913082).
{ECO:0000269|PubMed:10620127}.
/FTId=VAR_018323.
VARIANT 257 257 A -> D (in ALPS1A; loss of interaction
with FADD). {ECO:0000269|PubMed:20935634,
ECO:0000269|PubMed:9028957}.
/FTId=VAR_013428.
VARIANT 259 259 I -> R (in ALPS1A).
{ECO:0000269|PubMed:10515860}.
/FTId=VAR_065131.
VARIANT 260 260 D -> G (in ALPS1A).
{ECO:0000269|PubMed:9927496}.
/FTId=VAR_013429.
VARIANT 260 260 D -> V (in ALPS1A; also found in non-
Hodgkin lymphoma; somatic mutation; loss
of interaction with FADD;
dbSNP:rs28929498).
{ECO:0000269|PubMed:11418480,
ECO:0000269|PubMed:20935634,
ECO:0000269|PubMed:9787134,
ECO:0000269|PubMed:9821419}.
/FTId=VAR_013431.
VARIANT 260 260 D -> Y (in ALPS1A; loss of interaction
with FADD; dbSNP:rs121913086).
{ECO:0000269|PubMed:20935634,
ECO:0000269|PubMed:8929361}.
/FTId=VAR_013430.
VARIANT 262 262 I -> S (in ALPS1A).
{ECO:0000269|PubMed:17336828}.
/FTId=VAR_058910.
VARIANT 264 264 N -> K (in non-Hodgkin lymphoma; somatic
mutation). {ECO:0000269|PubMed:9787134}.
/FTId=VAR_013432.
VARIANT 270 270 T -> I (in ALPS1A; dbSNP:rs121913081).
{ECO:0000269|PubMed:11418480,
ECO:0000269|PubMed:9927496}.
/FTId=VAR_013433.
VARIANT 270 270 T -> K (in ALPS1A; loss of interaction
with FADD). {ECO:0000269|PubMed:10515860,
ECO:0000269|PubMed:20935634}.
/FTId=VAR_065132.
VARIANT 272 272 E -> G (in ALPS1A).
{ECO:0000269|PubMed:10340403,
ECO:0000269|PubMed:11418480}.
/FTId=VAR_013434.
VARIANT 272 272 E -> K (in ALPS1A; also found in non-
Hodgkin lymphoma; somatic mutation; loss
of interaction with FADD).
{ECO:0000269|PubMed:10515860,
ECO:0000269|PubMed:20935634,
ECO:0000269|PubMed:9787134}.
/FTId=VAR_013435.
VARIANT 278 278 L -> F (in non-Hodgkin lymphoma; somatic
mutation). {ECO:0000269|PubMed:9787134}.
/FTId=VAR_013436.
VARIANT 299 299 K -> N (in non-Hodgkin lymphoma; somatic
mutation). {ECO:0000269|PubMed:9787134}.
/FTId=VAR_013437.
VARIANT 305 305 T -> I (in dbSNP:rs3218611).
{ECO:0000269|Ref.11}.
/FTId=VAR_020942.
VARIANT 310 310 I -> S (in ALPS1A).
{ECO:0000269|PubMed:9028957}.
/FTId=VAR_013438.
MUTAGEN 250 250 R->E: Strongly decreased interaction with
FADD. {ECO:0000269|PubMed:20935634}.
MUTAGEN 261 261 E->K: Loss of interaction with FADD.
{ECO:0000269|PubMed:20935634}.
MUTAGEN 283 283 Q->K: Loss of interaction with FADD.
{ECO:0000269|PubMed:20935634}.
MUTAGEN 287 287 K->D: Strongly decreased interaction with
FADD. {ECO:0000269|PubMed:20935634}.
MUTAGEN 291 291 Y->D: Decreased interaction with FADD.
{ECO:0000269|PubMed:19118384}.
MUTAGEN 313 313 I->D: Constitutive activation. Promotes
apoptosis, both in the presence and in
the absence of stimulation by a ligand.
{ECO:0000269|PubMed:19118384}.
CONFLICT 224 224 L -> F (in Ref. 11; AAR08906).
{ECO:0000305}.
CONFLICT 242 242 L -> P (in Ref. 9; CAR92543).
{ECO:0000305}.
STRAND 67 71 {ECO:0000244|PDB:3TJE}.
STRAND 75 77 {ECO:0000244|PDB:3TJE}.
STRAND 82 84 {ECO:0000244|PDB:3TJE}.
TURN 87 89 {ECO:0000244|PDB:3TJE}.
HELIX 109 111 {ECO:0000244|PDB:3TJE}.
STRAND 113 117 {ECO:0000244|PDB:3TJE}.
STRAND 126 129 {ECO:0000244|PDB:3TJE}.
STRAND 137 139 {ECO:0000244|PDB:3TJE}.
HELIX 174 181 {ECO:0000244|PDB:2NA7}.
HELIX 184 193 {ECO:0000244|PDB:2NA7}.
HELIX 232 242 {ECO:0000244|PDB:3EWT}.
TURN 251 253 {ECO:0000244|PDB:1DDF}.
HELIX 256 265 {ECO:0000244|PDB:3EZQ}.
HELIX 270 282 {ECO:0000244|PDB:3EZQ}.
HELIX 287 319 {ECO:0000244|PDB:3EZQ}.
HELIX 327 334 {ECO:0000244|PDB:3EZQ}.
SEQUENCE 335 AA; 37732 MW; 0139942535111410 CRC64;
MLGIWTLLPL VLTSVARLSS KSVNAQVTDI NSKGLELRKT VTTVETQNLE GLHHDGQFCH
KPCPPGERKA RDCTVNGDEP DCVPCQEGKE YTDKAHFSSK CRRCRLCDEG HGLEVEINCT
RTQNTKCRCK PNFFCNSTVC EHCDPCTKCE HGIIKECTLT SNTKCKEEGS RSNLGWLCLL
LLPIPLIVWV KRKEVQKTCR KHRKENQGSH ESPTLNPETV AINLSDVDLS KYITTIAGVM
TLSQVKGFVR KNGVNEAKID EIKNDNVQDT AEQKVQLLRN WHQLHGKKEA YDTLIKDLKK
ANLCTLAEKI QTIILKDITS DSENSNFRNE IQSLV


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