FA53A_HUMAN
ID FA53A_HUMAN Reviewed; 398 AA.
AC Q6NSI3; Q6ZUL5;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Protein FAM53A {ECO:0000305};
DE AltName: Full=Dorsal neural-tube nuclear protein {ECO:0000250|UniProtKB:Q5ZKN5};
GN Name=FAM53A {ECO:0000312|HGNC:HGNC:31860};
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].
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 MRNA].
RC TISSUE=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 [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-125, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE 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).
CC -!- FUNCTION: May play an important role in neural development; the
CC dorsomedial roof of the third ventricle.
CC {ECO:0000250|UniProtKB:Q5ZKN5}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5ZKN5}.
CC Note=Subnuclear distribution. {ECO:0000250|UniProtKB:Q5ZKN5}.
CC -!- SIMILARITY: Belongs to the FAM53 family. {ECO:0000305}.
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DR EMBL; AK125566; BAC86205.1; -; mRNA.
DR EMBL; BC070112; AAH70112.1; -; mRNA.
DR CCDS; CCDS33939.1; -.
DR RefSeq; NP_001013644.1; NM_001013622.3.
DR RefSeq; NP_001167541.1; NM_001174070.2.
DR RefSeq; NP_001284364.1; NM_001297435.1.
DR RefSeq; XP_005248005.1; XM_005247948.3.
DR RefSeq; XP_011511704.1; XM_011513402.2.
DR AlphaFoldDB; Q6NSI3; -.
DR BioGRID; 127470; 4.
DR STRING; 9606.ENSP00000310057; -.
DR iPTMnet; Q6NSI3; -.
DR PhosphoSitePlus; Q6NSI3; -.
DR BioMuta; FAM53A; -.
DR DMDM; 74736712; -.
DR jPOST; Q6NSI3; -.
DR MassIVE; Q6NSI3; -.
DR PaxDb; Q6NSI3; -.
DR PeptideAtlas; Q6NSI3; -.
DR PRIDE; Q6NSI3; -.
DR ProteomicsDB; 66629; -.
DR Antibodypedia; 50275; 51 antibodies from 11 providers.
DR DNASU; 152877; -.
DR Ensembl; ENST00000308132.11; ENSP00000310057.6; ENSG00000174137.14.
DR Ensembl; ENST00000461064.5; ENSP00000418243.1; ENSG00000174137.14.
DR Ensembl; ENST00000472884.6; ENSP00000426260.1; ENSG00000174137.14.
DR GeneID; 152877; -.
DR KEGG; hsa:152877; -.
DR MANE-Select; ENST00000308132.11; ENSP00000310057.6; NM_001174070.3; NP_001167541.1.
DR UCSC; uc021xkk.2; human.
DR CTD; 152877; -.
DR DisGeNET; 152877; -.
DR GeneCards; FAM53A; -.
DR HGNC; HGNC:31860; FAM53A.
DR HPA; ENSG00000174137; Tissue enhanced (testis).
DR neXtProt; NX_Q6NSI3; -.
DR OpenTargets; ENSG00000174137; -.
DR PharmGKB; PA142671887; -.
DR VEuPathDB; HostDB:ENSG00000174137; -.
DR eggNOG; ENOG502RUYA; Eukaryota.
DR GeneTree; ENSGT00530000063371; -.
DR HOGENOM; CLU_054215_0_0_1; -.
DR InParanoid; Q6NSI3; -.
DR OMA; PTGPCPL; -.
DR OrthoDB; 1614405at2759; -.
DR PhylomeDB; Q6NSI3; -.
DR TreeFam; TF332095; -.
DR PathwayCommons; Q6NSI3; -.
DR SignaLink; Q6NSI3; -.
DR BioGRID-ORCS; 152877; 11 hits in 1071 CRISPR screens.
DR ChiTaRS; FAM53A; human.
DR GenomeRNAi; 152877; -.
DR Pharos; Q6NSI3; Tdark.
DR PRO; PR:Q6NSI3; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6NSI3; protein.
DR Bgee; ENSG00000174137; Expressed in oocyte and 133 other tissues.
DR ExpressionAtlas; Q6NSI3; baseline and differential.
DR Genevisible; Q6NSI3; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0006606; P:protein import into nucleus; IBA:GO_Central.
DR InterPro; IPR029356; FAM53.
DR PANTHER; PTHR28567; PTHR28567; 1.
DR Pfam; PF15242; FAM53; 1.
PE 1: Evidence at protein level;
KW Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..398
FT /note="Protein FAM53A"
FT /id="PRO_0000261628"
FT REGION 85..253
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 336..398
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 268..276
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255"
FT COMPBIAS 102..119
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 174..198
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 339..365
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 366..398
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 125
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 301
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:E9PV82"
FT MOD_RES 304
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:E9PV82"
FT CONFLICT 95
FT /note="A -> V (in Ref. 1; BAC86205)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 398 AA; 42585 MW; 045E6F7C1969CD00 CRC64;
MVTLITEKLQ SQSLDDLTCK AEAGPLQYSA ETLNKSGRLF PLELNDQSPW KVFSGGPPVR
SQAATGPDFS FLPGLSAAAH TMGLQWQPQS PRPGAGLGAA STVDPSESTG SSTAPPTKRH
CRSLSEPEEL VRCRSPWRPG SSKVWTPVSK RRCDSGGSAT RQGSPGAVLP RSAVWSTGPT
SPATPRPSSA SGGFVDSSEG SAGSGPLWCS AESCLPSTRR RPSLSQERLA GAGTPLPWAS
SSPTSTPALG GRRGLLRCRS QPCVLSGKRS RRKRRREEDA RWTRPSLDFL KMTQTLKNSK
SLCSLNYEDD DEDDTPVKTV LSSPCDSRGL PGITMPGCSQ RGLRTSPVHP NLWASRESVT
SDGSRRSSGD PRDGDSVGEE GVFPRARWEL DLEQIENN