FA83E_HUMAN
ID FA83E_HUMAN Reviewed; 478 AA.
AC Q2M2I3; Q9NXK1;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 102.
DE RecName: Full=Protein FAM83E {ECO:0000305};
GN Name=FAM83E {ECO:0000312|HGNC:HGNC:25972};
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], AND VARIANTS ALA-91 AND LEU-311.
RC TISSUE=Colon mucosa;
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=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-91.
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 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 Q2M2I3; P48729: CSNK1A1; NbExp=6; IntAct=EBI-21993639, EBI-1383726;
CC -!- SIMILARITY: Belongs to the FAM83 family. {ECO:0000305}.
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DR EMBL; AK000207; BAA91009.1; -; mRNA.
DR EMBL; AC008403; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC022154; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC111970; AAI11971.1; -; mRNA.
DR EMBL; BC111972; AAI11973.1; -; mRNA.
DR CCDS; CCDS42587.1; -.
DR RefSeq; NP_060178.2; NM_017708.3.
DR RefSeq; XP_005259076.1; XM_005259019.1.
DR AlphaFoldDB; Q2M2I3; -.
DR SMR; Q2M2I3; -.
DR IntAct; Q2M2I3; 4.
DR STRING; 9606.ENSP00000263266; -.
DR iPTMnet; Q2M2I3; -.
DR PhosphoSitePlus; Q2M2I3; -.
DR BioMuta; FAM83E; -.
DR DMDM; 311033380; -.
DR EPD; Q2M2I3; -.
DR jPOST; Q2M2I3; -.
DR MassIVE; Q2M2I3; -.
DR PaxDb; Q2M2I3; -.
DR PeptideAtlas; Q2M2I3; -.
DR PRIDE; Q2M2I3; -.
DR ProteomicsDB; 61353; -.
DR Antibodypedia; 45772; 31 antibodies from 11 providers.
DR DNASU; 54854; -.
DR Ensembl; ENST00000263266.4; ENSP00000263266.2; ENSG00000105523.4.
DR GeneID; 54854; -.
DR KEGG; hsa:54854; -.
DR MANE-Select; ENST00000263266.4; ENSP00000263266.2; NM_017708.4; NP_060178.2.
DR UCSC; uc002pjn.3; human.
DR CTD; 54854; -.
DR DisGeNET; 54854; -.
DR GeneCards; FAM83E; -.
DR HGNC; HGNC:25972; FAM83E.
DR HPA; ENSG00000105523; Tissue enhanced (intestine, salivary gland, stomach).
DR neXtProt; NX_Q2M2I3; -.
DR OpenTargets; ENSG00000105523; -.
DR PharmGKB; PA142671852; -.
DR VEuPathDB; HostDB:ENSG00000105523; -.
DR eggNOG; ENOG502QWTG; Eukaryota.
DR GeneTree; ENSGT00940000161572; -.
DR HOGENOM; CLU_019056_4_0_1; -.
DR InParanoid; Q2M2I3; -.
DR OMA; VVRGCTF; -.
DR OrthoDB; 606817at2759; -.
DR PhylomeDB; Q2M2I3; -.
DR TreeFam; TF330777; -.
DR PathwayCommons; Q2M2I3; -.
DR SignaLink; Q2M2I3; -.
DR BioGRID-ORCS; 54854; 27 hits in 1070 CRISPR screens.
DR ChiTaRS; FAM83E; human.
DR GenomeRNAi; 54854; -.
DR Pharos; Q2M2I3; Tdark.
DR PRO; PR:Q2M2I3; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q2M2I3; protein.
DR Bgee; ENSG00000105523; Expressed in mucosa of transverse colon and 99 other tissues.
DR ExpressionAtlas; Q2M2I3; baseline and differential.
DR Genevisible; Q2M2I3; 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..478
FT /note="Protein FAM83E"
FT /id="PRO_0000314929"
FT REGION 292..334
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 359..436
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 452..478
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 375..392
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 91
FT /note="T -> A (in dbSNP:rs447802)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_038130"
FT VARIANT 311
FT /note="P -> L (in dbSNP:rs3745728)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038131"
FT VARIANT 372
FT /note="R -> H (in dbSNP:rs3745727)"
FT /id="VAR_038132"
FT CONFLICT 5
FT /note="Q -> R (in Ref. 1; BAA91009)"
FT /evidence="ECO:0000305"
FT CONFLICT 425
FT /note="P -> S (in Ref. 1; BAA91009)"
FT /evidence="ECO:0000305"
FT CONFLICT 463
FT /note="V -> I (in Ref. 1; BAA91009)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 478 AA; 51780 MW; C5C2264196DED361 CRC64;
MAASQLAALE GVDSGPRVPG ASPGFLYSEG QRLALEALLS KGAEAFQTCV QREELWPFLS
ADEVQGLAAA AEDWTVAKQE PSGMAEGATT TDVDAGSLSY WPGQSEQPAP VLRLGWPVDS
AWKGITRAQL YTQPPGEGQP PLKELVRLEI QAAHKLVAVV MDVFTDPDLL LDLVDAATRR
WVPVYLLLDR QQLPAFLELA QQLGVNPWNT ENVDVRVVRG CSFQSRWRRQ VSGTVREKFV
LLDGERVISG SYSFTWSDAR LHRGLVTLLT GEIVDAFSLE FRTLYAASCP LPPAPPQKPS
VIGGLQRGRS PHRVSRRRSV APASPPPPDG PLAHRLAACR VSPATPGPAL SDILRSVQRA
RTPSGPPARP SRSMWDLSRL SQLSGSSDGD NELKKSWGSK DTPAKALMRQ RGTGGGPWGE
VDSRPPWGGA LPLPPAHRLR YLSPARRRFG GDATFKLQEP RGVRPSDWAP RAGLGGQP
