FA53B_HUMAN
ID FA53B_HUMAN Reviewed; 422 AA.
AC Q14153; D3DRF1; Q5VUW1; Q5VUW2; Q8N5S6;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Protein FAM53B {ECO:0000305};
DE AltName: Full=Protein simplet {ECO:0000303|PubMed:25183871};
GN Name=FAM53B {ECO:0000312|HGNC:HGNC:28968};
GN Synonyms=KIAA0140 {ECO:0000303|PubMed:8590280},
GN SMP {ECO:0000303|PubMed:25183871};
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 1), AND TISSUE SPECIFICITY.
RC TISSUE=Bone marrow;
RX PubMed=8590280; DOI=10.1093/dnares/2.4.167;
RA Nagase T., Seki N., Tanaka A., Ishikawa K., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. IV. The
RT coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of
RT cDNA clones from human cell line KG-1.";
RL DNA Res. 2:167-174(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Hippocampus;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain, and Lung;
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 [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-167, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-118; SER-167; SER-169;
RP SER-179 AND SER-268, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [8]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH CTNNB1.
RX PubMed=25183871; DOI=10.1242/dev.108415;
RA Kizil C., Kuechler B., Yan J.J., Oezhan G., Moro E., Argenton F., Brand M.,
RA Weidinger G., Antos C.L.;
RT "Simplet/Fam53b is required for Wnt signal transduction by regulating beta-
RT catenin nuclear localization.";
RL Development 141:3529-3539(2014).
CC -!- FUNCTION: Acts as a regulator of Wnt signaling pathway by regulating
CC beta-catenin (CTNNB1) nuclear localization.
CC {ECO:0000269|PubMed:25183871}.
CC -!- SUBUNIT: Interacts with CTNNB1. {ECO:0000269|Ref.4}.
CC -!- INTERACTION:
CC Q14153-2; P63167: DYNLL1; NbExp=3; IntAct=EBI-12401851, EBI-349105;
CC Q14153-2; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12401851, EBI-16439278;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25183871}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q14153-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q14153-2; Sequence=VSP_009932, VSP_009933;
CC -!- TISSUE SPECIFICITY: Detected in skeletal muscle, kidney, spleen,
CC thyroid, testis, ovary, small intestine, colon and peripheral blood.
CC {ECO:0000269|PubMed:8590280}.
CC -!- SIMILARITY: Belongs to the FAM53 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA09489.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; D50930; BAA09489.2; ALT_INIT; mRNA.
DR EMBL; AK127343; BAG54488.1; -; mRNA.
DR EMBL; AC068896; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL513190; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49259.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49260.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49261.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49262.1; -; Genomic_DNA.
DR EMBL; BC031654; AAH31654.1; -; mRNA.
DR CCDS; CCDS7641.1; -. [Q14153-1]
DR RefSeq; NP_055476.3; NM_014661.3. [Q14153-1]
DR AlphaFoldDB; Q14153; -.
DR BioGRID; 115033; 17.
DR IntAct; Q14153; 10.
DR MINT; Q14153; -.
DR STRING; 9606.ENSP00000338532; -.
DR GlyGen; Q14153; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q14153; -.
DR PhosphoSitePlus; Q14153; -.
DR BioMuta; FAM53B; -.
DR DMDM; 215273981; -.
DR EPD; Q14153; -.
DR jPOST; Q14153; -.
DR MassIVE; Q14153; -.
DR MaxQB; Q14153; -.
DR PaxDb; Q14153; -.
DR PeptideAtlas; Q14153; -.
DR PRIDE; Q14153; -.
DR ProteomicsDB; 59855; -. [Q14153-1]
DR ProteomicsDB; 59856; -. [Q14153-2]
DR Antibodypedia; 48489; 45 antibodies from 11 providers.
DR DNASU; 9679; -.
DR Ensembl; ENST00000280780.6; ENSP00000280780.6; ENSG00000189319.14. [Q14153-2]
DR Ensembl; ENST00000337318.8; ENSP00000338532.3; ENSG00000189319.14. [Q14153-1]
DR Ensembl; ENST00000392754.7; ENSP00000376509.3; ENSG00000189319.14. [Q14153-1]
DR GeneID; 9679; -.
DR KEGG; hsa:9679; -.
DR MANE-Select; ENST00000337318.8; ENSP00000338532.3; NM_014661.4; NP_055476.3.
DR UCSC; uc001lhv.2; human. [Q14153-1]
DR CTD; 9679; -.
DR DisGeNET; 9679; -.
DR GeneCards; FAM53B; -.
DR HGNC; HGNC:28968; FAM53B.
DR HPA; ENSG00000189319; Low tissue specificity.
DR neXtProt; NX_Q14153; -.
DR OpenTargets; ENSG00000189319; -.
DR PharmGKB; PA134957918; -.
DR VEuPathDB; HostDB:ENSG00000189319; -.
DR eggNOG; ENOG502QQM7; Eukaryota.
DR GeneTree; ENSGT00530000063371; -.
DR HOGENOM; CLU_054215_2_0_1; -.
DR InParanoid; Q14153; -.
DR OMA; GTQRDIF; -.
DR OrthoDB; 1614405at2759; -.
DR PhylomeDB; Q14153; -.
DR TreeFam; TF332095; -.
DR PathwayCommons; Q14153; -.
DR SignaLink; Q14153; -.
DR BioGRID-ORCS; 9679; 14 hits in 1084 CRISPR screens.
DR ChiTaRS; FAM53B; human.
DR GenomeRNAi; 9679; -.
DR Pharos; Q14153; Tdark.
DR PRO; PR:Q14153; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q14153; protein.
DR Bgee; ENSG00000189319; Expressed in olfactory bulb and 205 other tissues.
DR Genevisible; Q14153; HS.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0090263; P:positive regulation of canonical Wnt signaling pathway; IMP:UniProtKB.
DR GO; GO:0006606; P:protein import into nucleus; IBA:GO_Central.
DR GO; GO:0060828; P:regulation of canonical Wnt signaling pathway; IMP:UniProtKB.
DR GO; GO:0016055; P:Wnt signaling pathway; IEA:UniProtKB-KW.
DR InterPro; IPR029356; FAM53.
DR PANTHER; PTHR28567; PTHR28567; 1.
DR Pfam; PF15242; FAM53; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Nucleus; Phosphoprotein; Reference proteome;
KW Wnt signaling pathway.
FT CHAIN 1..422
FT /note="Protein FAM53B"
FT /id="PRO_0000189544"
FT REGION 245..269
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 281..284
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000250|UniProtKB:F1QN48"
FT MOD_RES 118
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 167
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 169
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 179
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 212
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BGR5"
FT MOD_RES 268
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 303..305
FT /note="NCQ -> IAP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_009932"
FT VAR_SEQ 306..422
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_009933"
FT CONFLICT 368
FT /note="A -> V (in Ref. 1; BAA09489)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 422 AA; 45768 MW; 7F7768093408D791 CRC64;
MVMVLSESLS TRGADSIACG TFSRELHTPK KMSQGPTLFS CGIMENDRWR DLDRKCPLQI
DQPSTSIWEC LPEKDSSLWH REAVTACAVT SLIKDLSISD HNGNPSAPPS KRQCRSLSFS
DEMSSCRTSW RPLGSKVWTP VEKRRCYSGG SVQRYSNGFS TMQRSSSFSL PSRANVLSSP
CDQAGLHHRF GGQPCQGVPG SAPCGQAGDT WSPDLHPVGG GRLDLQRSLS CSHEQFSFVE
YCPPSANSTP ASTPELARRS SGLSRSRSQP CVLNDKKVGV KRRRPEEVQE QRPSLDLAKM
AQNCQTFSSL SCLSAGTEDC GPQSPFARHV SNTRAWTALL SASGPGGRTP AGTPVPEPLP
PSFDDHLACQ EDLSCEESDS CALDEDCGRR AEPAAAWRDR GAPGNSLCSL DGELDIEQIE
KN
