FA50B_HUMAN
ID FA50B_HUMAN Reviewed; 325 AA.
AC Q9Y247; Q5T2L6;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Protein FAM50B;
DE AltName: Full=Protein XAP-5-like;
GN Name=FAM50B; Synonyms=X5L;
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 [GENOMIC DNA].
RX PubMed=10534398; DOI=10.1006/geno.1999.5931;
RA Sedlack Z., Muenstermann E., Dhorne-Pollet S., Otto C., Bock D.,
RA Schuetz G., Poustka A.;
RT "Human and mouse XAP-5 and XAP-5-like (X5L) genes: identification of an
RT ancient functional retroposon differentially expressed in testis.";
RL Genomics 61:125-132(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cervix;
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 [5]
RP IMPRINTING, AND INDUCTION.
RX PubMed=21593219; DOI=10.1093/hmg/ddr224;
RA Nakabayashi K., Trujillo A.M., Tayama C., Camprubi C., Yoshida W.,
RA Lapunzina P., Sanchez A., Soejima H., Aburatani H., Nagae G., Ogata T.,
RA Hata K., Monk D.;
RT "Methylation screening of reciprocal genome-wide UPDs identifies novel
RT human-specific imprinted genes.";
RL Hum. Mol. Genet. 20:3188-3197(2011).
RN [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- INTERACTION:
CC Q9Y247; P35609: ACTN2; NbExp=3; IntAct=EBI-742802, EBI-77797;
CC Q9Y247; Q8TD16-2: BICD2; NbExp=3; IntAct=EBI-742802, EBI-11975051;
CC Q9Y247; Q9H257: CARD9; NbExp=3; IntAct=EBI-742802, EBI-751319;
CC Q9Y247; Q2TAC2: CCDC57; NbExp=3; IntAct=EBI-742802, EBI-2808286;
CC Q9Y247; Q8N998: CCDC89; NbExp=3; IntAct=EBI-742802, EBI-12814117;
CC Q9Y247; P24863: CCNC; NbExp=3; IntAct=EBI-742802, EBI-395261;
CC Q9Y247; Q01850: CDR2; NbExp=3; IntAct=EBI-742802, EBI-1181367;
CC Q9Y247; Q05D60: DEUP1; NbExp=3; IntAct=EBI-742802, EBI-748597;
CC Q9Y247; A1L4K1: FSD2; NbExp=3; IntAct=EBI-742802, EBI-5661036;
CC Q9Y247; P14136: GFAP; NbExp=3; IntAct=EBI-742802, EBI-744302;
CC Q9Y247; Q96IK5: GMCL1; NbExp=3; IntAct=EBI-742802, EBI-2548508;
CC Q9Y247; Q08379: GOLGA2; NbExp=6; IntAct=EBI-742802, EBI-618309;
CC Q9Y247; Q4V328: GRIPAP1; NbExp=3; IntAct=EBI-742802, EBI-717919;
CC Q9Y247; P54257: HAP1; NbExp=3; IntAct=EBI-742802, EBI-712814;
CC Q9Y247; Q96ED9-2: HOOK2; NbExp=3; IntAct=EBI-742802, EBI-10961706;
CC Q9Y247; Q13422: IKZF1; NbExp=4; IntAct=EBI-742802, EBI-745305;
CC Q9Y247; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-742802, EBI-747204;
CC Q9Y247; Q8N6L0: KASH5; NbExp=3; IntAct=EBI-742802, EBI-749265;
CC Q9Y247; O00629: KPNA4; NbExp=3; IntAct=EBI-742802, EBI-396343;
CC Q9Y247; Q15323: KRT31; NbExp=3; IntAct=EBI-742802, EBI-948001;
CC Q9Y247; O76011: KRT34; NbExp=3; IntAct=EBI-742802, EBI-1047093;
CC Q9Y247; O95751: LDOC1; NbExp=6; IntAct=EBI-742802, EBI-740738;
CC Q9Y247; Q9Y250: LZTS1; NbExp=3; IntAct=EBI-742802, EBI-1216080;
CC Q9Y247; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-742802, EBI-741037;
CC Q9Y247; O15344: MID1; NbExp=3; IntAct=EBI-742802, EBI-2340316;
CC Q9Y247; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-742802, EBI-10172526;
CC Q9Y247; P40692: MLH1; NbExp=3; IntAct=EBI-742802, EBI-744248;
CC Q9Y247; P61970: NUTF2; NbExp=3; IntAct=EBI-742802, EBI-591778;
CC Q9Y247; P26367: PAX6; NbExp=3; IntAct=EBI-742802, EBI-747278;
CC Q9Y247; Q5VU43-2: PDE4DIP; NbExp=3; IntAct=EBI-742802, EBI-9640281;
CC Q9Y247; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-742802, EBI-14066006;
CC Q9Y247; P20618: PSMB1; NbExp=3; IntAct=EBI-742802, EBI-372273;
CC Q9Y247; Q15276: RABEP1; NbExp=3; IntAct=EBI-742802, EBI-447043;
CC Q9Y247; O75410-7: TACC1; NbExp=3; IntAct=EBI-742802, EBI-12007872;
CC Q9Y247; Q86TI0: TBC1D1; NbExp=3; IntAct=EBI-742802, EBI-1644036;
CC Q9Y247; Q99081-3: TCF12; NbExp=3; IntAct=EBI-742802, EBI-11952764;
CC Q9Y247; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-742802, EBI-1105213;
CC Q9Y247; Q12933: TRAF2; NbExp=3; IntAct=EBI-742802, EBI-355744;
CC Q9Y247; Q14142: TRIM14; NbExp=3; IntAct=EBI-742802, EBI-2820256;
CC Q9Y247; O94972: TRIM37; NbExp=3; IntAct=EBI-742802, EBI-741602;
CC Q9Y247; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-742802, EBI-2130429;
CC Q9Y247; Q9BZL1: UBL5; NbExp=3; IntAct=EBI-742802, EBI-607755;
CC Q9Y247; Q08AM6: VAC14; NbExp=3; IntAct=EBI-742802, EBI-2107455;
CC Q9Y247; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-742802, EBI-2799833;
CC Q9Y247; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-742802, EBI-12030590;
CC Q9Y247; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-742802, EBI-527853;
CC -!- TISSUE SPECIFICITY: Widely expressed. Mostly abundant in testis and
CC adult and fetal brain.
CC -!- INDUCTION: Imprinted. Promoter methylation of the maternal allele may
CC restrict expression to the paternal allele in placenta.
CC {ECO:0000269|PubMed:21593219}.
CC -!- SIMILARITY: Belongs to the FAM50 family. {ECO:0000305}.
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DR EMBL; Y18504; CAB46273.1; -; Genomic_DNA.
DR EMBL; Y18503; CAB46272.1; -; mRNA.
DR EMBL; AL391422; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471087; EAW55142.1; -; Genomic_DNA.
DR EMBL; BC001261; AAH01261.1; -; mRNA.
DR CCDS; CCDS4487.1; -.
DR RefSeq; NP_036267.1; NM_012135.2.
DR RefSeq; XP_016866218.1; XM_017010729.1.
DR AlphaFoldDB; Q9Y247; -.
DR BioGRID; 117631; 60.
DR IntAct; Q9Y247; 52.
DR MINT; Q9Y247; -.
DR STRING; 9606.ENSP00000369627; -.
DR iPTMnet; Q9Y247; -.
DR PhosphoSitePlus; Q9Y247; -.
DR BioMuta; FAM50B; -.
DR DMDM; 48474710; -.
DR EPD; Q9Y247; -.
DR jPOST; Q9Y247; -.
DR MassIVE; Q9Y247; -.
DR MaxQB; Q9Y247; -.
DR PaxDb; Q9Y247; -.
DR PeptideAtlas; Q9Y247; -.
DR PRIDE; Q9Y247; -.
DR ProteomicsDB; 85644; -.
DR Antibodypedia; 24439; 67 antibodies from 15 providers.
DR DNASU; 26240; -.
DR Ensembl; ENST00000380274.2; ENSP00000369627.1; ENSG00000145945.7.
DR Ensembl; ENST00000648326.1; ENSP00000496837.1; ENSG00000145945.7.
DR GeneID; 26240; -.
DR KEGG; hsa:26240; -.
DR MANE-Select; ENST00000648326.1; ENSP00000496837.1; NM_012135.3; NP_036267.1.
DR UCSC; uc003mvu.4; human.
DR CTD; 26240; -.
DR DisGeNET; 26240; -.
DR GeneCards; FAM50B; -.
DR HGNC; HGNC:18789; FAM50B.
DR HPA; ENSG00000145945; Low tissue specificity.
DR MIM; 614686; gene.
DR neXtProt; NX_Q9Y247; -.
DR OpenTargets; ENSG00000145945; -.
DR PharmGKB; PA134912073; -.
DR VEuPathDB; HostDB:ENSG00000145945; -.
DR eggNOG; KOG2894; Eukaryota.
DR GeneTree; ENSGT00390000004735; -.
DR HOGENOM; CLU_037985_1_1_1; -.
DR InParanoid; Q9Y247; -.
DR OMA; RMRKGST; -.
DR OrthoDB; 1061864at2759; -.
DR PhylomeDB; Q9Y247; -.
DR TreeFam; TF314738; -.
DR PathwayCommons; Q9Y247; -.
DR SignaLink; Q9Y247; -.
DR BioGRID-ORCS; 26240; 16 hits in 1065 CRISPR screens.
DR GenomeRNAi; 26240; -.
DR Pharos; Q9Y247; Tbio.
DR PRO; PR:Q9Y247; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9Y247; protein.
DR Bgee; ENSG00000145945; Expressed in endothelial cell and 188 other tissues.
DR ExpressionAtlas; Q9Y247; baseline and differential.
DR Genevisible; Q9Y247; HS.
DR GO; GO:0045171; C:intercellular bridge; IDA:HPA.
DR GO; GO:0030496; C:midbody; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0006325; P:chromatin organization; IBA:GO_Central.
DR InterPro; IPR007005; XAP5.
DR PANTHER; PTHR12722; PTHR12722; 1.
DR Pfam; PF04921; XAP5; 1.
PE 1: Evidence at protein level;
KW Acetylation; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..325
FT /note="Protein FAM50B"
FT /id="PRO_0000068286"
FT REGION 92..111
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 137..160
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:22814378"
SQ SEQUENCE 325 AA; 38709 MW; 9F0653C3D7236997 CRC64;
MAQYKGTMRE AGRAMHLLKK RERQREQMEV LKQRIAEETI LKSQVDKRFS AHYDAVEAEL
KSSTVGLVTL NDMKARQEAL VRERERQLAK RQHLEEQRLQ QERQREQEQR RERKRKISCL
SFALDDLDDQ ADAAEARRAG NLGKNPDVDT SFLPDRDREE EENRLREELR QEWEAQREKV
KDEEMEVTFS YWDGSGHRRT VRVRKGNTVQ QFLKKALQGL RKDFLELRSA GVEQLMFIKE
DLILPHYHTF YDFIIARARG KSGPLFSFDV HDDVRLLSDA TMEKDESHAG KVVLRSWYEK
NKHIFPASRW EAYDPEKKWD KYTIR
