FA83C_HUMAN
ID FA83C_HUMAN Reviewed; 747 AA.
AC Q9BQN1; Q14D67; Q5JWN6; Q8N276;
DT 19-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 10-JUL-2007, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Protein FAM83C {ECO:0000305};
GN Name=FAM83C {ECO:0000312|HGNC:HGNC:16121};
GN Synonyms=C20orf128 {ECO:0000312|HGNC:HGNC:16121};
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 GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 181-747.
RC TISSUE=Tongue;
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 [5]
RP FUNCTION, AND INTERACTION WITH RAF1.
RX PubMed=24736947; DOI=10.1158/1541-7786.mcr-13-0289;
RA Cipriano R., Miskimen K.L., Bryson B.L., Foy C.R., Bartel C.A.,
RA Jackson M.W.;
RT "Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling
RT in human cancer.";
RL Mol. Cancer Res. 12:1156-1165(2014).
CC -!- FUNCTION: May play a role in MAPK signaling.
CC {ECO:0000303|PubMed:24736947}.
CC -!- SUBUNIT: May interact with RAF1. {ECO:0000269|PubMed:24736947}.
CC -!- INTERACTION:
CC Q9BQN1; P48729: CSNK1A1; NbExp=6; IntAct=EBI-1220251, EBI-1383726;
CC -!- SIMILARITY: Belongs to the FAM83 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03594.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL121753; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW76218.1; -; Genomic_DNA.
DR EMBL; BC113483; AAI13484.1; -; mRNA.
DR EMBL; AK091138; BAC03594.1; ALT_INIT; mRNA.
DR CCDS; CCDS13251.1; -.
DR RefSeq; NP_848563.1; NM_178468.5.
DR AlphaFoldDB; Q9BQN1; -.
DR SMR; Q9BQN1; -.
DR BioGRID; 126173; 3.
DR IntAct; Q9BQN1; 4.
DR MINT; Q9BQN1; -.
DR STRING; 9606.ENSP00000363529; -.
DR GlyGen; Q9BQN1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BQN1; -.
DR PhosphoSitePlus; Q9BQN1; -.
DR BioMuta; FAM83C; -.
DR DMDM; 152031601; -.
DR MassIVE; Q9BQN1; -.
DR PaxDb; Q9BQN1; -.
DR PeptideAtlas; Q9BQN1; -.
DR PRIDE; Q9BQN1; -.
DR ProteomicsDB; 78702; -.
DR Antibodypedia; 74559; 8 antibodies from 7 providers.
DR DNASU; 128876; -.
DR Ensembl; ENST00000374408.4; ENSP00000363529.3; ENSG00000125998.8.
DR GeneID; 128876; -.
DR KEGG; hsa:128876; -.
DR MANE-Select; ENST00000374408.4; ENSP00000363529.3; NM_178468.6; NP_848563.1.
DR UCSC; uc021wck.2; human.
DR CTD; 128876; -.
DR DisGeNET; 128876; -.
DR GeneCards; FAM83C; -.
DR HGNC; HGNC:16121; FAM83C.
DR HPA; ENSG00000125998; Group enriched (esophagus, skin, vagina).
DR neXtProt; NX_Q9BQN1; -.
DR OpenTargets; ENSG00000125998; -.
DR PharmGKB; PA25669; -.
DR VEuPathDB; HostDB:ENSG00000125998; -.
DR eggNOG; ENOG502QQ4N; Eukaryota.
DR GeneTree; ENSGT00940000160254; -.
DR HOGENOM; CLU_020214_0_0_1; -.
DR InParanoid; Q9BQN1; -.
DR OMA; GFCGGED; -.
DR OrthoDB; 421095at2759; -.
DR PhylomeDB; Q9BQN1; -.
DR TreeFam; TF330777; -.
DR PathwayCommons; Q9BQN1; -.
DR SignaLink; Q9BQN1; -.
DR BioGRID-ORCS; 128876; 13 hits in 1063 CRISPR screens.
DR GenomeRNAi; 128876; -.
DR Pharos; Q9BQN1; Tdark.
DR PRO; PR:Q9BQN1; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9BQN1; protein.
DR Bgee; ENSG00000125998; Expressed in gingival epithelium and 56 other tissues.
DR Genevisible; Q9BQN1; HS.
DR GO; GO:0019901; F:protein kinase binding; IPI:UniProtKB.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR InterPro; IPR012461; FAM83_N.
DR Pfam; PF07894; FAM83; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..747
FT /note="Protein FAM83C"
FT /id="PRO_0000079459"
FT REGION 322..352
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 374..412
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 462..484
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 517..550
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 588..633
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 646..672
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 692..715
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 337..352
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 588..613
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 134
FT /note="E -> K (in dbSNP:rs35162625)"
FT /id="VAR_053900"
FT VARIANT 600
FT /note="Y -> H (in dbSNP:rs35560631)"
FT /id="VAR_053901"
FT VARIANT 621
FT /note="R -> Q (in dbSNP:rs2425049)"
FT /id="VAR_021946"
FT VARIANT 645
FT /note="R -> C (in dbSNP:rs35518957)"
FT /id="VAR_053902"
FT CONFLICT 442
FT /note="G -> E (in Ref. 4; BAC03594)"
FT /evidence="ECO:0000305"
FT CONFLICT 728
FT /note="D -> V (in Ref. 4; BAC03594)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 747 AA; 81078 MW; 0EC47DAA84D59683 CRC64;
MFGGPGPGVL GAQGMAGPLR GRVEELKLPW WRESSPLVLR HSEAARLAAD ALLERGEAAY
LRVISEEREL PFLSALDVDY MTSHVRGGPE LSEAQGQEAS GPDRLSLLSE VTSGTYFPMA
SDIDPPDLDL GWPEVPQATG FSPTQAVVHF QRDKAKNIKD LLRFLFSQAH TVVAVVMDIF
TDMELLCDLM EASSRRGVPV YLLLAQEHLR HFLEMCYKMD LNGEHLPNMR VRSTCGDTYC
SKAGRRFTGQ ALEKFVLIDC EQVVAGSYSF TWLCSQAHTS MVLQLRGRIV EDFDREFRCL
YAESQPVEGF CGGEDPLSPR ALRPPPVALA FRPDVPSPTS SLPSSTSLSS IKQSPLMGRS
SYLALPGGGD CSDTGVVSSS LGPARREASG QPSLHRQLSD PNHGSPPGLY RANLGKLGAY
PWSQSSPALN HNSTSPLTLA VGSPLLPRSR PLLQFHRGAP ALSRFPENGL PGSQEPSPLR
GRWVPGTTLE TVEEKEKKAS PSQSRGQLDL LVPFPRAREV GDPDSGVTPN SGPLRPGEQA
PEDRRLSPSQ ADSQLDLLSR ALGTGGAPEL GSLRPGDRAL EDRRLSLNQS RGQSDLLMQY
PKAQGSRVPL ETNSSARPAR RAPDERRQTL GHSQLDLITK FGPFRGEGPG PNGLPISSPA
RTAGAGSGDE KRLTLGHSKL DLITKYHQLH GARQGTEPGG PKGGHLNGGN SDLVRDEKRL
TLGHSKLDLI TKYNKSKFKQ LRSRFES
