FA83F_HUMAN
ID FA83F_HUMAN Reviewed; 500 AA.
AC Q8NEG4; Q96FD6;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Protein FAM83F;
GN Name=FAM83F;
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=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Cervix, and Testis;
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 ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE
RP ANALYSIS] AT SER-4, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE
RP ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [5]
RP VARIANT [LARGE SCALE ANALYSIS] VAL-418.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- INTERACTION:
CC Q8NEG4; P48729: CSNK1A1; NbExp=7; IntAct=EBI-1563144, EBI-1383726;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NEG4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NEG4-2; Sequence=VSP_030448;
CC -!- SIMILARITY: Belongs to the FAM83 family. {ECO:0000305}.
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DR EMBL; Z83847; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z82206; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471095; EAW60365.1; -; Genomic_DNA.
DR EMBL; BC011204; AAH11204.1; -; mRNA.
DR EMBL; BC031099; AAH31099.1; -; mRNA.
DR CCDS; CCDS14000.2; -. [Q8NEG4-1]
DR RefSeq; NP_612444.2; NM_138435.2. [Q8NEG4-1]
DR AlphaFoldDB; Q8NEG4; -.
DR SMR; Q8NEG4; -.
DR BioGRID; 125262; 43.
DR IntAct; Q8NEG4; 3.
DR STRING; 9606.ENSP00000330432; -.
DR iPTMnet; Q8NEG4; -.
DR PhosphoSitePlus; Q8NEG4; -.
DR BioMuta; FAM83F; -.
DR DMDM; 74760207; -.
DR EPD; Q8NEG4; -.
DR jPOST; Q8NEG4; -.
DR MassIVE; Q8NEG4; -.
DR MaxQB; Q8NEG4; -.
DR PaxDb; Q8NEG4; -.
DR PeptideAtlas; Q8NEG4; -.
DR PRIDE; Q8NEG4; -.
DR ProteomicsDB; 73162; -. [Q8NEG4-1]
DR ProteomicsDB; 73163; -. [Q8NEG4-2]
DR Antibodypedia; 26692; 87 antibodies from 18 providers.
DR DNASU; 113828; -.
DR Ensembl; ENST00000333407.11; ENSP00000330432.5; ENSG00000133477.17. [Q8NEG4-1]
DR Ensembl; ENST00000473717.1; ENSP00000476600.1; ENSG00000133477.17. [Q8NEG4-2]
DR GeneID; 113828; -.
DR KEGG; hsa:113828; -.
DR MANE-Select; ENST00000333407.11; ENSP00000330432.5; NM_138435.4; NP_612444.2.
DR UCSC; uc021wqa.2; human. [Q8NEG4-1]
DR CTD; 113828; -.
DR DisGeNET; 113828; -.
DR GeneCards; FAM83F; -.
DR HGNC; HGNC:25148; FAM83F.
DR HPA; ENSG00000133477; Tissue enhanced (esophagus, testis).
DR neXtProt; NX_Q8NEG4; -.
DR OpenTargets; ENSG00000133477; -.
DR PharmGKB; PA142671853; -.
DR VEuPathDB; HostDB:ENSG00000133477; -.
DR eggNOG; ENOG502QPW1; Eukaryota.
DR GeneTree; ENSGT00940000160998; -.
DR HOGENOM; CLU_019056_2_0_1; -.
DR InParanoid; Q8NEG4; -.
DR OMA; GQHVEMF; -.
DR OrthoDB; 354494at2759; -.
DR PhylomeDB; Q8NEG4; -.
DR TreeFam; TF330777; -.
DR PathwayCommons; Q8NEG4; -.
DR SignaLink; Q8NEG4; -.
DR BioGRID-ORCS; 113828; 9 hits in 1070 CRISPR screens.
DR ChiTaRS; FAM83F; human.
DR GenomeRNAi; 113828; -.
DR Pharos; Q8NEG4; Tbio.
DR PRO; PR:Q8NEG4; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q8NEG4; protein.
DR Bgee; ENSG00000133477; Expressed in left testis and 142 other tissues.
DR Genevisible; Q8NEG4; HS.
DR GO; GO:0019901; F:protein kinase binding; IBA:GO_Central.
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 Acetylation; Alternative splicing; Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:21406692"
FT CHAIN 2..500
FT /note="Protein FAM83F"
FT /id="PRO_0000314950"
FT REGION 82..109
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 347..366
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 391..500
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 401..419
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 455..500
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 4
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 479
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3UKU4"
FT VAR_SEQ 1..168
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030448"
FT VARIANT 245
FT /note="R -> S (in dbSNP:rs12330063)"
FT /id="VAR_038134"
FT VARIANT 353
FT /note="G -> S (in dbSNP:rs35823589)"
FT /id="VAR_038135"
FT VARIANT 418
FT /note="A -> V (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_038136"
FT VARIANT 436
FT /note="R -> G (in dbSNP:rs5995794)"
FT /id="VAR_038137"
FT CONFLICT 349
FT /note="R -> W (in Ref. 3; AAH11204)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 500 AA; 55486 MW; DFBFB8E9F3612608 CRC64;
MAESQLNCLD EAHVNEKVTE AQAAFYYCER RRAALEALLG GGEQAYRERL KEEQLRDFLS
SPERQALRAA WSPYEDAVPA ANARGKSKAK AKAPAPAPAE SGESLAYWPD RSDTEVPPLD
LGWTDTGFYR GVSRVTLFTH PPKDEKAPHL KQVVRQMIQQ AQKVIAVVMD LFTDGDIFQD
IVDAACKRRV PVYIILDEAG VKYFLEMCQD LQLTDFRIRN IRVRSVTGVG FYMPMGRIKG
TLSSRFLMVD GDKVATGSYR FTWSSSHVDR NLLLLLTGQN VEPFDTEFRE LYAISEEVDL
YRQLSLAGRV GLHYSSTVAR KLINPKYALV SGCRHPPGEM MRWAARQQRE AGGNPEGQEE
GASGGESAWR LESFLKDLVT VEQVLPPVEP IPLGELSQKD GRMVSHMHRD LKPKSREAPS
RNGMGEAARG EAAPARRFSS RLFSRRAKRP AAPNGMASSV STETSEVEFL TGKRPNENSS
ADISGKTSPS SAKPSNCVIS
