F185A_HUMAN
ID F185A_HUMAN Reviewed; 392 AA.
AC Q8N0U4; A8MUR7; B4DQD3; C9IZ91;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Protein FAM185A;
GN Name=FAM185A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT ALA-60.
RC TISSUE=Ovary;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ALA-60.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT PHE-15.
RX PubMed=28501589; DOI=10.1016/j.clim.2017.05.009;
RA Sadovnick A.D., Traboulsee A.L., Zhao Y., Bernales C.Q., Encarnacion M.,
RA Ross J.P., Yee I.M., Criscuoli M.G., Vilarino-Gueell C.;
RT "Genetic modifiers of multiple sclerosis progression, severity and onset.";
RL Clin. Immunol. 180:100-105(2017).
CC -!- INTERACTION:
CC Q8N0U4; O14964: HGS; NbExp=3; IntAct=EBI-12842420, EBI-740220;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N0U4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N0U4-2; Sequence=VSP_031804;
CC Name=3;
CC IsoId=Q8N0U4-3; Sequence=VSP_037078;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK298753; BAG60895.1; -; mRNA.
DR EMBL; AC006477; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105052; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029175; AAH29175.1; -; mRNA.
DR CCDS; CCDS47676.1; -. [Q8N0U4-1]
DR CCDS; CCDS47677.1; -. [Q8N0U4-3]
DR RefSeq; NP_001138740.1; NM_001145268.1. [Q8N0U4-1]
DR RefSeq; NP_001138741.1; NM_001145269.1. [Q8N0U4-3]
DR AlphaFoldDB; Q8N0U4; -.
DR SMR; Q8N0U4; -.
DR BioGRID; 128791; 6.
DR IntAct; Q8N0U4; 3.
DR STRING; 9606.ENSP00000395340; -.
DR iPTMnet; Q8N0U4; -.
DR PhosphoSitePlus; Q8N0U4; -.
DR BioMuta; FAM185A; -.
DR DMDM; 296439356; -.
DR EPD; Q8N0U4; -.
DR jPOST; Q8N0U4; -.
DR MassIVE; Q8N0U4; -.
DR MaxQB; Q8N0U4; -.
DR PaxDb; Q8N0U4; -.
DR PeptideAtlas; Q8N0U4; -.
DR PRIDE; Q8N0U4; -.
DR ProteomicsDB; 71456; -. [Q8N0U4-1]
DR ProteomicsDB; 71457; -. [Q8N0U4-2]
DR ProteomicsDB; 71458; -. [Q8N0U4-3]
DR Antibodypedia; 31132; 41 antibodies from 17 providers.
DR DNASU; 222234; -.
DR Ensembl; ENST00000409231.7; ENSP00000387066.3; ENSG00000222011.9. [Q8N0U4-3]
DR Ensembl; ENST00000413034.3; ENSP00000395340.2; ENSG00000222011.9. [Q8N0U4-1]
DR Ensembl; ENST00000442873.5; ENSP00000410226.1; ENSG00000222011.9. [Q8N0U4-2]
DR GeneID; 222234; -.
DR KEGG; hsa:222234; -.
DR MANE-Select; ENST00000413034.3; ENSP00000395340.2; NM_001145268.2; NP_001138740.2.
DR UCSC; uc011klf.3; human. [Q8N0U4-1]
DR CTD; 222234; -.
DR DisGeNET; 222234; -.
DR GeneCards; FAM185A; -.
DR HGNC; HGNC:22412; FAM185A.
DR HPA; ENSG00000222011; Low tissue specificity.
DR neXtProt; NX_Q8N0U4; -.
DR OpenTargets; ENSG00000222011; -.
DR PharmGKB; PA164719851; -.
DR VEuPathDB; HostDB:ENSG00000222011; -.
DR eggNOG; ENOG502QQG7; Eukaryota.
DR GeneTree; ENSGT00390000016680; -.
DR HOGENOM; CLU_150388_0_0_1; -.
DR InParanoid; Q8N0U4; -.
DR OMA; KTQSWFE; -.
DR OrthoDB; 1154103at2759; -.
DR PhylomeDB; Q8N0U4; -.
DR TreeFam; TF323809; -.
DR PathwayCommons; Q8N0U4; -.
DR SignaLink; Q8N0U4; -.
DR BioGRID-ORCS; 222234; 31 hits in 1045 CRISPR screens.
DR ChiTaRS; FAM185A; human.
DR GenomeRNAi; 222234; -.
DR Pharos; Q8N0U4; Tdark.
DR PRO; PR:Q8N0U4; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N0U4; protein.
DR Bgee; ENSG00000222011; Expressed in quadriceps femoris and 107 other tissues.
DR ExpressionAtlas; Q8N0U4; baseline and differential.
DR Genevisible; Q8N0U4; HS.
DR InterPro; IPR025164; DUF4097.
DR Pfam; PF13349; DUF4097; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..392
FT /note="Protein FAM185A"
FT /id="PRO_0000321830"
FT REGION 39..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 71..187
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_037078"
FT VAR_SEQ 145..392
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031804"
FT VARIANT 15
FT /note="L -> F (in dbSNP:rs141352868)"
FT /evidence="ECO:0000269|PubMed:28501589"
FT /id="VAR_084592"
FT VARIANT 60
FT /note="G -> A (in dbSNP:rs28695887)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039356"
SQ SEQUENCE 392 AA; 42301 MW; F0737B78CE484B28 CRC64;
MLAPCSGWEL GCFRLCLRQV RLWAGAGRWA CWACQARPYS SGGSERWPGS ETEVPPPGPG
RRTLKEWTLQ VSPFGRLRAR LPCHLAVRPL DPLTYPDGDR VLVAVCGVEG GVRGLDGLQV
KYDEDLEEMA IVSDTIHPQA SVEVNAPLKF GLDIKSSGSG CVKVQSIEGD NCKIETEHGT
SILQSVKGQK LHVQTKGGKV ICLGTVYGNI DIHASDKSAV TIDKLQGSSV TVSTEDGLLK
AKYLYTESSF LSSAAGDITL GSVHGNITLQ SKMGNITVDS SSGCLKASTN QGAIDVYVSQ
LGKVELKSHK GSIIVKVPSS LQAHLQLSGK EVDVNSEVHV QEMAEVRKDD VVTVTGLMNQ
ASKREKWIKA DAPKGTVSFR RQSWFQSLKL QD