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Sterile alpha motif domain-containing protein 9-like (SAM domain-containing protein 9-like)

 SAM9L_HUMAN             Reviewed;        1584 AA.
Q8IVG5; A0JP23; A0JP24; A0PJG8; A4D1G8; D6W5Q6; Q2TV71; Q2TV75;
Q2UZV8; Q8IWI4; Q8N3L9; Q8N875;
06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
06-MAR-2007, sequence version 2.
20-JUN-2018, entry version 113.
RecName: Full=Sterile alpha motif domain-containing protein 9-like;
Short=SAM domain-containing protein 9-like;
Name=SAMD9L; Synonyms=C7orf6, DRIF2, KIAA2005, UEF;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
PubMed=17407603; DOI=10.1186/1471-2164-8-92;
Li C.F., MacDonald J.R., Wei R.Y., Ray J., Lau K., Kandel C.,
Koffman R., Bell S., Scherer S.W., Alman B.A.;
"Human sterile alpha motif domain 9, a novel gene identified as down-
regulated in aggressive fibromatosis, is absent in the mouse.";
BMC Genomics 8:92-92(2007).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
Nagase T., Kikuno R., Ohara O.;
"The nucleotide sequence of a long cDNA clone isolated from human.";
Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12690205; DOI=10.1126/science.1083423;
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z.,
Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
Mural R.J., Adams M.D., Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
[4]
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.
[5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Skin, and Uterus;
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).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 868-1584 (ISOFORM 1).
TISSUE=Spleen;
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).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1090-1584 (ISOFORM 1).
TISSUE=Amygdala;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[9]
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).
[10]
INTERACTION WITH EEA1.
PubMed=24029230; DOI=10.1016/j.ccr.2013.08.011;
Nagamachi A., Matsui H., Asou H., Ozaki Y., Aki D., Kanai A.,
Takubo K., Suda T., Nakamura T., Wolff L., Honda H., Inaba T.;
"Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes
myeloid malignancies in mice mimicking human diseases with monosomy
7.";
Cancer Cell 24:305-317(2013).
[11]
INVOLVEMENT IN ATXPC, AND VARIANTS ATXPC GLN-880 AND SER-1196.
PubMed=27259050; DOI=10.1016/j.ajhg.2016.04.009;
Chen D.H., Below J.E., Shimamura A., Keel S.B., Matsushita M.,
Wolff J., Sul Y., Bonkowski E., Castella M., Taniguchi T.,
Nickerson D., Papayannopoulou T., Bird T.D., Raskind W.H.;
"Ataxia-pancytopenia syndrome is caused by missense mutations in
SAMD9L.";
Am. J. Hum. Genet. 98:1146-1158(2016).
-!- FUNCTION: May be involved in endosome fusion. Mediates down-
regulation of growth factor signaling via internalization of
growth factor receptors. {ECO:0000250|UniProtKB:Q69Z37}.
-!- SUBUNIT: Interacts with EEA1. {ECO:0000269|PubMed:24029230}.
-!- SUBCELLULAR LOCATION: Early endosome
{ECO:0000250|UniProtKB:Q69Z37}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q8IVG5-1; Sequence=Displayed;
Name=2; Synonyms=UEF3;
IsoId=Q8IVG5-2; Sequence=VSP_027875;
Note=No experimental confirmation available. Dubious isoform
produced through aberrant splice sites.;
-!- TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues.
Variable expression in tumors. Down-regulated in breast cancer.
{ECO:0000269|PubMed:17407603}.
-!- DISEASE: Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550]: An
autosomal dominant disorder characterized by cerebellar ataxia,
variable hematologic cytopenias, and predisposition to bone marrow
failure and myeloid leukemia. {ECO:0000269|PubMed:27259050}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SEQUENCE CAUTION:
Sequence=AAI27118.1; Type=Frameshift; Positions=1259; Evidence={ECO:0000305};
Sequence=AAI27119.1; Type=Frameshift; Positions=1516; Evidence={ECO:0000305};
Sequence=BAC04975.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=BAC23102.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=CAD38910.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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EMBL; AY195582; AAP57709.1; -; mRNA.
EMBL; AY195583; AAP57710.1; -; mRNA.
EMBL; AY195584; AAP57711.1; -; mRNA.
EMBL; AY195585; AAP57712.1; -; mRNA.
EMBL; AY195586; AAP57713.1; -; mRNA.
EMBL; AY195588; AAP57714.1; -; mRNA.
EMBL; AF474973; AAQ05771.1; -; mRNA.
EMBL; DQ068177; AAY98793.1; -; mRNA.
EMBL; AB095926; BAC23102.1; ALT_INIT; mRNA.
EMBL; CH236949; EAL24144.1; -; Genomic_DNA.
EMBL; CH471091; EAW76824.1; -; Genomic_DNA.
EMBL; CH471091; EAW76825.1; -; Genomic_DNA.
EMBL; BC029108; AAH29108.1; ALT_TERM; mRNA.
EMBL; BC038974; AAH38974.1; ALT_SEQ; mRNA.
EMBL; BC127117; AAI27118.1; ALT_FRAME; mRNA.
EMBL; BC127118; AAI27119.1; ALT_FRAME; mRNA.
EMBL; AK097204; BAC04975.1; ALT_INIT; mRNA.
EMBL; AL834232; CAD38910.1; ALT_INIT; mRNA.
CCDS; CCDS34681.1; -. [Q8IVG5-1]
RefSeq; NP_001290425.1; NM_001303496.1. [Q8IVG5-1]
RefSeq; NP_001290426.1; NM_001303497.1. [Q8IVG5-1]
RefSeq; NP_001290427.1; NM_001303498.1. [Q8IVG5-1]
RefSeq; NP_001290429.1; NM_001303500.1. [Q8IVG5-1]
RefSeq; NP_689916.2; NM_152703.3. [Q8IVG5-1]
RefSeq; XP_005250250.1; XM_005250193.3. [Q8IVG5-1]
RefSeq; XP_006715953.1; XM_006715890.1. [Q8IVG5-1]
RefSeq; XP_011514205.1; XM_011515903.2. [Q8IVG5-1]
RefSeq; XP_016867311.1; XM_017011822.1. [Q8IVG5-1]
RefSeq; XP_016867312.1; XM_017011823.1. [Q8IVG5-1]
UniGene; Hs.489118; -.
ProteinModelPortal; Q8IVG5; -.
BioGrid; 128519; 1.
IntAct; Q8IVG5; 4.
STRING; 9606.ENSP00000326247; -.
iPTMnet; Q8IVG5; -.
PhosphoSitePlus; Q8IVG5; -.
BioMuta; SAMD9L; -.
DMDM; 146325547; -.
MaxQB; Q8IVG5; -.
PaxDb; Q8IVG5; -.
PeptideAtlas; Q8IVG5; -.
PRIDE; Q8IVG5; -.
ProteomicsDB; 70702; -.
ProteomicsDB; 70703; -. [Q8IVG5-2]
Ensembl; ENST00000318238; ENSP00000326247; ENSG00000177409. [Q8IVG5-1]
Ensembl; ENST00000411955; ENSP00000405760; ENSG00000177409. [Q8IVG5-1]
Ensembl; ENST00000437805; ENSP00000408796; ENSG00000177409. [Q8IVG5-1]
Ensembl; ENST00000610760; ENSP00000484397; ENSG00000177409. [Q8IVG5-2]
GeneID; 219285; -.
KEGG; hsa:219285; -.
UCSC; uc003umh.2; human. [Q8IVG5-1]
CTD; 219285; -.
DisGeNET; 219285; -.
EuPathDB; HostDB:ENSG00000177409.11; -.
GeneCards; SAMD9L; -.
H-InvDB; HIX0168018; -.
HGNC; HGNC:1349; SAMD9L.
HPA; HPA019461; -.
HPA; HPA019465; -.
HPA; HPA019488; -.
MalaCards; SAMD9L; -.
MIM; 159550; phenotype.
MIM; 611170; gene.
neXtProt; NX_Q8IVG5; -.
OpenTargets; ENSG00000177409; -.
PharmGKB; PA25949; -.
eggNOG; ENOG410IETT; Eukaryota.
eggNOG; ENOG41124X3; LUCA.
GeneTree; ENSGT00390000013973; -.
HOVERGEN; HBG080713; -.
InParanoid; Q8IVG5; -.
OMA; RFPQNAF; -.
OrthoDB; EOG091G00BC; -.
PhylomeDB; Q8IVG5; -.
TreeFam; TF331842; -.
ChiTaRS; SAMD9L; human.
GenomeRNAi; 219285; -.
PRO; PR:Q8IVG5; -.
Proteomes; UP000005640; Chromosome 7.
Bgee; ENSG00000177409; -.
ExpressionAtlas; Q8IVG5; baseline and differential.
Genevisible; Q8IVG5; HS.
GO; GO:0005769; C:early endosome; IBA:GO_Central.
GO; GO:0034058; P:endosomal vesicle fusion; IBA:GO_Central.
InterPro; IPR001660; SAM.
InterPro; IPR013761; SAM/pointed_sf.
SUPFAM; SSF47769; SSF47769; 1.
PROSITE; PS50105; SAM_DOMAIN; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Disease mutation; Endosome;
Polymorphism; Reference proteome.
CHAIN 1 1584 Sterile alpha motif domain-containing
protein 9-like.
/FTId=PRO_0000279498.
DOMAIN 14 79 SAM. {ECO:0000255|PROSITE-
ProRule:PRU00184}.
VAR_SEQ 154 1331 Missing (in isoform 2).
{ECO:0000303|PubMed:17407603}.
/FTId=VSP_027875.
VARIANT 266 266 V -> I (in dbSNP:rs10488532).
/FTId=VAR_030911.
VARIANT 289 289 F -> S (in dbSNP:rs2073793).
/FTId=VAR_030912.
VARIANT 880 880 H -> Q (in ATXPC; dbSNP:rs878855336).
{ECO:0000269|PubMed:27259050}.
/FTId=VAR_077034.
VARIANT 1137 1137 G -> A (in dbSNP:rs17165111).
/FTId=VAR_030913.
VARIANT 1196 1196 C -> S (in ATXPC; unknown pathological
significance; dbSNP:rs878855337).
{ECO:0000269|PubMed:27259050}.
/FTId=VAR_077035.
VARIANT 1516 1516 N -> T (in dbSNP:rs10282508).
/FTId=VAR_030914.
SEQUENCE 1584 AA; 184533 MW; A9C52976D47AE79B CRC64;
MSKQVSLPEM IKDWTKEHVK KWVNEDLKIN EQYGQILLSE EVTGLVLQEL TEKDLVEMGL
PWGPALLIKR SYNKLNSKSP ESDNHDPGQL DNSKPSKTEH QKNPKHTKKE EENSMSSNID
YDPREIRDIK QEESILMKEN VLDEVANAKH KKKGKLKPEQ LTCMPYPFDQ FHDSHRYIEH
YTLQPETGAL NLIDPIHEFK ALTNTETATE VDIKMKFSNE VFRFASACMN SRTNGTIHFG
VKDKPHGEIV GVKITSKAAF IDHFNVMIKK YFEESEINEA KKCIREPRFV EVLLQNNTPS
DRFVIEVDTI PKHSICNDKY FYIQMQICKD KIWKQNQNLS LFVREGASSR DILANSKQRD
VDFKAFLQNL KSLVASRKEA EEEYGMKAMK KESEGLKLVK LLIGNRDSLD NSYYDWYILV
TNKCHPNQIK HLDFLKEIKW FAVLEFDPES MINGVVKAYK ESRVANLHFP NQYEDKTTNM
WEKISTLNLY QQPSWIFCNG RSDLKSETYK PLEPHLWQRE RASEVRKLIL FLTDENIMTR
GKFLVVFLLL SSVESPGDPL IETFWAFYQA LKGMENMLCI SVNSHIYQRW KDLLQTRMKM
EDELTNHSIS TLNIELVNST ILKLKSVTRS SRRFLPARGS SSVILEKKKE DVLTALEILC
ENECTETDIE KDKSKFLEFK KSKEEHFYRG GKVSWWNFYF SSENYSSDFV KRDSYEKLKD
LIHCWAESPK PIFAKIINLY HHPGCGGTTL AMHVLWDLKK NFRCAVLKNK TTDFAEIAEQ
VINLVTYRAK SHQDYIPVLL LVDDFEEQEN VYFLQNAIHS VLAEKDLRYE KTLVIILNCM
RSRNPDESAK LADSIALNYQ LSSKEQRAFG AKLKEIEKQH KNCENFYSFM IMKSNFDETY
IENVVRNILK GQDVDSKEAQ LISFLALLSS YVTDSTISVS QCEIFLGIIY TSTPWEPESL
EDKMGTYSTL LIKTEVAEYG RYTGVRIIHP LIALYCLKEL ERSYHLDKCQ IALNILEENL
FYDSGIGRDK FQHDVQTLLL TRQRKVYGDE TDTLFSPLME ALQNKDIEKV LSAGSRRFPQ
NAFICQALAR HFYIKEKDFN TALDWARQAK MKAPKNSYIS DTLGQVYKSE IKWWLDGNKN
CRSITVNDLT HLLEAAEKAS RAFKESQRQT DSKNYETENW SPQKSQRRYD MYNTACFLGE
IEVGLYTIQI LQLTPFFHKE NELSKKHMVQ FLSGKWTIPP DPRNECYLAL SKFTSHLKNL
QSDLKRCFDF FIDYMVLLKM RYTQKEIAEI MLSKKVSRCF RKYTELFCHL DPCLLQSKES
QLLQEENCRK KLEALRADRF AGLLEYLNPN YKDATTMESI VNEYAFLLQQ NSKKPMTNEK
QNSILANIIL SCLKPNSKLI QPLTTLKKQL REVLQFVGLS HQYPGPYFLA CLLFWPENQE
LDQDSKLIEK YVSSLNRSFR GQYKRMCRSK QASTLFYLGK RKGLNSIVHK AKIEQYFDKA
QNTNSLWHSG DVWKKNEVKD LLRRLTGQAE GKLISVEYGT EEKIKIPVIS VYSGPLRSGR
NIERVSFYLG FSIEGPLAYD IEVI


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