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Protein FAM107A (Down-regulated in renal cell carcinoma 1) (Protein TU3A)

 F107A_HUMAN             Reviewed;         144 AA.
O95990; B3KNQ4; B7ZAY5; J3KR61; Q96NH4;
30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
01-MAY-1999, sequence version 1.
25-OCT-2017, entry version 128.
RecName: Full=Protein FAM107A;
AltName: Full=Down-regulated in renal cell carcinoma 1;
AltName: Full=Protein TU3A;
Name=FAM107A; Synonyms=DRR1, TU3A;
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), FUNCTION, SUBCELLULAR
LOCATION, TISSUE SPECIFICITY, AND VARIANTS MET-15 AND LEU-19.
TISSUE=Ovary;
PubMed=10564580;
DOI=10.1002/(SICI)1098-2264(200001)27:1<1::AID-GCC1>3.0.CO;2-6;
Wang L., Darling J., Zhang J.-S., Liu W., Qian J., Bostwick D.,
Hartmann L., Jenkins R., Bardenhauer W., Schutte J., Opalka B.,
Smith D.I.;
"Loss of expression of the DRR1 gene at chromosomal segment 3p21.1 in
renal cell carcinoma.";
Genes Chromosomes Cancer 27:1-10(2000).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=10702698;
Yamato T., Orikasa K., Fukushige S., Orikasa S., Horii A.;
"Isolation and characterization of the novel gene, TU3A, in a commonly
deleted region on 3p14.3->p14.2 in renal cell carcinoma.";
Cytogenet. Cell Genet. 87:291-295(1999).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=11230166; DOI=10.1101/gr.GR1547R;
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
Wambutt R., Korn B., Klein M., Poustka A.;
"Towards a catalog of human genes and proteins: sequencing and
analysis of 500 novel complete protein coding human cDNAs.";
Genome Res. 11:422-435(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
TISSUE=Fetal brain;
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).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16641997; DOI=10.1038/nature04728;
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
Gibbs R.A.;
"The DNA sequence, annotation and analysis of human chromosome 3.";
Nature 440:1194-1198(2006).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
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]
SUBCELLULAR LOCATION.
PubMed=11256614; DOI=10.1093/embo-reports/kvd058;
Simpson J.C., Wellenreuther R., Poustka A., Pepperkok R., Wiemann S.;
"Systematic subcellular localization of novel proteins identified by
large-scale cDNA sequencing.";
EMBO Rep. 1:287-292(2000).
-!- FUNCTION: When transfected into cell lines in which it is not
expressed, suppresses cell growth. May play a role in tumor
development. {ECO:0000269|PubMed:10564580}.
-!- INTERACTION:
Q96JN2-2:CCDC136; NbExp=3; IntAct=EBI-10192902, EBI-10171416;
A1L4K1:FSD2; NbExp=3; IntAct=EBI-10192902, EBI-5661036;
Q7Z3Y8:KRT27; NbExp=4; IntAct=EBI-11977223, EBI-3044087;
Q6A162:KRT40; NbExp=3; IntAct=EBI-10192902, EBI-10171697;
Q9BRK4:LZTS2; NbExp=3; IntAct=EBI-10192902, EBI-741037;
Q9UJV3-2:MID2; NbExp=3; IntAct=EBI-10192902, EBI-10172526;
Q5JR59-3:MTUS2; NbExp=4; IntAct=EBI-11977223, EBI-11522433;
Q8ND90:PNMA1; NbExp=3; IntAct=EBI-10192902, EBI-302345;
Q6NUQ1:RINT1; NbExp=3; IntAct=EBI-10192902, EBI-726876;
Q12933:TRAF2; NbExp=4; IntAct=EBI-11977223, EBI-355744;
O94972:TRIM37; NbExp=3; IntAct=EBI-10192902, EBI-741602;
Q8N6Y0:USHBP1; NbExp=3; IntAct=EBI-10192902, EBI-739895;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10564580,
ECO:0000269|PubMed:11256614}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1;
IsoId=O95990-1; Sequence=Displayed;
Name=2;
IsoId=O95990-2; Sequence=VSP_009232;
Note=May be due to an intron retention. No experimental
confirmation available.;
Name=3;
IsoId=O95990-3; Sequence=VSP_054803;
Name=4;
IsoId=O95990-4; Sequence=VSP_054804;
Note=Ref.4 (BAG51416) sequence is in conflict in position:
26:R->Q. {ECO:0000305};
-!- TISSUE SPECIFICITY: Widely expressed in normal tissues. Expression
is reduced or absent in a number of cancer cell lines.
{ECO:0000269|PubMed:10564580}.
-!- SIMILARITY: Belongs to the FAM107 family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/FAM107AID42728ch3p14.html";
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; AF089854; AAD16094.1; -; mRNA.
EMBL; AF089853; AAD16093.1; -; mRNA.
EMBL; AB023810; BAA83072.1; -; Genomic_DNA.
EMBL; AB023811; BAA82845.1; -; mRNA.
EMBL; AL050264; CAB43366.1; -; mRNA.
EMBL; AK054720; BAG51416.1; -; mRNA.
EMBL; AK055443; BAB70924.1; -; mRNA.
EMBL; AK316450; BAH14821.1; -; mRNA.
EMBL; AC116036; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC119424; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471055; EAW65380.1; -; Genomic_DNA.
EMBL; BC010561; AAH10561.1; -; mRNA.
CCDS; CCDS2892.1; -. [O95990-1]
CCDS; CCDS63672.1; -. [O95990-3]
CCDS; CCDS63673.1; -. [O95990-4]
PIR; T08666; T08666.
RefSeq; NP_001070246.1; NM_001076778.2. [O95990-1]
RefSeq; NP_001269642.1; NM_001282713.1. [O95990-3]
RefSeq; NP_001269643.1; NM_001282714.1. [O95990-4]
RefSeq; NP_009108.1; NM_007177.3. [O95990-1]
UniGene; Hs.506357; -.
UniGene; Hs.729396; -.
ProteinModelPortal; O95990; -.
BioGrid; 116341; 25.
IntAct; O95990; 29.
MINT; MINT-1392905; -.
STRING; 9606.ENSP00000354270; -.
BioMuta; FAM107A; -.
EPD; O95990; -.
PaxDb; O95990; -.
PeptideAtlas; O95990; -.
PRIDE; O95990; -.
DNASU; 11170; -.
Ensembl; ENST00000360997; ENSP00000354270; ENSG00000168309. [O95990-1]
Ensembl; ENST00000394481; ENSP00000377991; ENSG00000168309. [O95990-1]
Ensembl; ENST00000447756; ENSP00000400858; ENSG00000168309. [O95990-3]
Ensembl; ENST00000464064; ENSP00000419529; ENSG00000168309. [O95990-2]
Ensembl; ENST00000474531; ENSP00000419124; ENSG00000168309. [O95990-4]
GeneID; 11170; -.
KEGG; hsa:11170; -.
UCSC; uc003dko.5; human. [O95990-1]
CTD; 11170; -.
DisGeNET; 11170; -.
EuPathDB; HostDB:ENSG00000168309.16; -.
GeneCards; FAM107A; -.
HGNC; HGNC:30827; FAM107A.
HPA; HPA055888; -.
MIM; 608295; gene.
neXtProt; NX_O95990; -.
OpenTargets; ENSG00000168309; -.
PharmGKB; PA143485464; -.
eggNOG; ENOG410IX5W; Eukaryota.
eggNOG; ENOG4111Z4D; LUCA.
GeneTree; ENSGT00390000011228; -.
HOGENOM; HOG000048230; -.
HOVERGEN; HBG002824; -.
InParanoid; O95990; -.
OMA; LMNHKRG; -.
PhylomeDB; O95990; -.
TreeFam; TF325943; -.
SIGNOR; O95990; -.
ChiTaRS; FAM107A; human.
GeneWiki; FAM107A; -.
GenomeRNAi; 11170; -.
PRO; PR:O95990; -.
Proteomes; UP000005640; Chromosome 3.
Bgee; ENSG00000168309; -.
CleanEx; HS_FAM107A; -.
ExpressionAtlas; O95990; baseline and differential.
Genevisible; O95990; HS.
GO; GO:0043005; C:neuron projection; IEA:Ensembl.
GO; GO:0016607; C:nuclear speck; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0001558; P:regulation of cell growth; IDA:UniProtKB.
InterPro; IPR009533; DUF1151.
PANTHER; PTHR16768; PTHR16768; 1.
Pfam; PF06625; DUF1151; 1.
1: Evidence at protein level;
Alternative splicing; Coiled coil; Complete proteome;
Growth regulation; Nucleus; Polymorphism; Reference proteome.
CHAIN 1 144 Protein FAM107A.
/FTId=PRO_0000080014.
COILED 66 112 {ECO:0000255}.
VAR_SEQ 1 1 M -> MAQRLGEWARGPSDATGLYRAVLLRSAAM (in
isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_054803.
VAR_SEQ 1 1 M -> MGAAQGKKKTYSPQARFHSENEKQRRNGSAAM (in
isoform 4).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_054804.
VAR_SEQ 110 144 LEKPPEKEEDHAPEFIKVRENLRRIATLTSEEREL -> VG
DGHPAGTTHPPGLSSREELCCGHS (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_009232.
VARIANT 15 15 L -> M (in ovarian cancer and renal cell
carcinoma cell lines).
{ECO:0000269|PubMed:10564580}.
/FTId=VAR_017238.
VARIANT 19 19 P -> L (in renal cell carcinoma cell
line). {ECO:0000269|PubMed:10564580}.
/FTId=VAR_017239.
VARIANT 89 89 A -> S (in dbSNP:rs1043942).
/FTId=VAR_049016.
VARIANT 141 141 E -> Q (in dbSNP:rs11539086).
/FTId=VAR_049017.
SEQUENCE 144 AA; 17455 MW; 90C192C723D68A36 CRC64;
MYSEIQRERA DIGGLMARPE YREWNPELIK PKKLLNPVKA SRSHQELHRE LLMNHRRGLG
VDSKPELQRV LEHRRRNQLI KKKKEELEAK RLQCPFEQEL LRRQQRLNQL EKPPEKEEDH
APEFIKVREN LRRIATLTSE EREL


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