LOCUS       NP_065764                892 aa            linear   PRI 27-APR-2025
DEFINITION  zinc finger protein 512B [Homo sapiens].
ACCESSION   NP_065764
VERSION     NP_065764.1
DBSOURCE    REFSEQ: accession NM_020713.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 892)
  AUTHORS   Jiang,H., Yang,B., Wang,F., Li,K., Zhu,Y., Liu,B., Ren,H., Tian,S.,
            Xu,Y., Pang,A. and Yang,X.
  TITLE     Association of Single Nucleotide Polymorphism at rs2275294 in the
            ZNF512B Gene with Prognosis in Amyotrophic Lateral Sclerosis
  JOURNAL   Neuromolecular Med 23 (2), 242-246 (2021)
   PUBMED   33387304
  REMARK    GeneRIF: Association of Single Nucleotide Polymorphism at rs2275294
            in the ZNF512B Gene with Prognosis in Amyotrophic Lateral
            Sclerosis.
REFERENCE   2  (residues 1 to 892)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (residues 1 to 892)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 892)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 892)
  AUTHORS   Ning,P., Yang,X., Yang,B., Zhao,Q., Huang,H., An,R., Chen,Y.,
            Hu,F., Xu,Z. and Xu,Y.
  TITLE     Meta-analysis of the association between ZNF512B polymorphism
            rs2275294 and risk of amyotrophic lateral sclerosis
  JOURNAL   Neurol Sci 39 (7), 1261-1266 (2018)
   PUBMED   29713939
  REMARK    GeneRIF: Five case-control studies involving 2559 patients with
            sporadic amyotrophic lateral sclerosis (ALS) and 5740 controls were
            analyzed. Based on random-effects meta-analysis, the ZNF512B
            polymorphism rs2275294 was associated with increased risk of ALS
            disease in an allele model. The available evidence suggests that
            the ZNF512B polymorphism rs2275294 is associated with ALS risk.
            Review article
REFERENCE   6  (residues 1 to 892)
  AUTHORS   Eeles,R.A., Olama,A.A., Benlloch,S., Saunders,E.J.,
            Leongamornlert,D.A., Tymrakiewicz,M., Ghoussaini,M., Luccarini,C.,
            Dennis,J., Jugurnauth-Little,S., Dadaev,T., Neal,D.E., Hamdy,F.C.,
            Donovan,J.L., Muir,K., Giles,G.G., Severi,G., Wiklund,F.,
            Gronberg,H., Haiman,C.A., Schumacher,F., Henderson,B.E., Le
            Marchand,L., Lindstrom,S., Kraft,P., Hunter,D.J., Gapstur,S.,
            Chanock,S.J., Berndt,S.I., Albanes,D., Andriole,G., Schleutker,J.,
            Weischer,M., Canzian,F., Riboli,E., Key,T.J., Travis,R.C.,
            Campa,D., Ingles,S.A., John,E.M., Hayes,R.B., Pharoah,P.D.,
            Pashayan,N., Khaw,K.T., Stanford,J.L., Ostrander,E.A.,
            Signorello,L.B., Thibodeau,S.N., Schaid,D., Maier,C., Vogel,W.,
            Kibel,A.S., Cybulski,C., Lubinski,J., Cannon-Albright,L.,
            Brenner,H., Park,J.Y., Kaneva,R., Batra,J., Spurdle,A.B.,
            Clements,J.A., Teixeira,M.R., Dicks,E., Lee,A., Dunning,A.M.,
            Baynes,C., Conroy,D., Maranian,M.J., Ahmed,S., Govindasami,K.,
            Guy,M., Wilkinson,R.A., Sawyer,E.J., Morgan,A., Dearnaley,D.P.,
            Horwich,A., Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N.J.,
            Woodhouse,C.J., Thompson,A., Dudderidge,T., Ogden,C., Cooper,C.S.,
            Lophatananon,A., Cox,A., Southey,M.C., Hopper,J.L., English,D.R.,
            Aly,M., Adolfsson,J., Xu,J., Zheng,S.L., Yeager,M., Kaaks,R.,
            Diver,W.R., Gaudet,M.M., Stern,M.C., Corral,R., Joshi,A.D.,
            Shahabi,A., Wahlfors,T., Tammela,T.L., Auvinen,A., Virtamo,J.,
            Klarskov,P., Nordestgaard,B.G., Roder,M.A., Nielsen,S.F.,
            Bojesen,S.E., Siddiq,A., Fitzgerald,L.M., Kolb,S., Kwon,E.M.,
            Karyadi,D.M., Blot,W.J., Zheng,W., Cai,Q., McDonnell,S.K.,
            Rinckleb,A.E., Drake,B., Colditz,G., Wokolorczyk,D.,
            Stephenson,R.A., Teerlink,C., Muller,H., Rothenbacher,D.,
            Sellers,T.A., Lin,H.Y., Slavov,C., Mitev,V., Lose,F.,
            Srinivasan,S., Maia,S., Paulo,P., Lange,E., Cooney,K.A.,
            Antoniou,A.C., Vincent,D., Bacot,F., Tessier,D.C., Kote-Jarai,Z.
            and Easton,D.F.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391 (2013)
   PUBMED   23535732
REFERENCE   7  (residues 1 to 892)
  AUTHORS   Tetsuka,S., Morita,M., Iida,A., Uehara,R., Ikegawa,S. and Nakano,I.
  TITLE     ZNF512B gene is a prognostic factor in patients with amyotrophic
            lateral sclerosis
  JOURNAL   J Neurol Sci 324 (1-2), 163-166 (2013)
   PUBMED   23168171
  REMARK    GeneRIF: The objective of our study was to examine whether the new
            single-nucleotide polymorphism in the ZNF512B gene might influence
            the phenotype of amyotrophic lateral sclerosis
REFERENCE   8  (residues 1 to 892)
  AUTHORS   Iida,A., Takahashi,A., Kubo,M., Saito,S., Hosono,N., Ohnishi,Y.,
            Kiyotani,K., Mushiroda,T., Nakajima,M., Ozaki,K., Tanaka,T.,
            Tsunoda,T., Oshima,S., Sano,M., Kamei,T., Tokuda,T., Aoki,M.,
            Hasegawa,K., Mizoguchi,K., Morita,M., Takahashi,Y., Katsuno,M.,
            Atsuta,N., Watanabe,H., Tanaka,F., Kaji,R., Nakano,I., Kamatani,N.,
            Tsuji,S., Sobue,G., Nakamura,Y. and Ikegawa,S.
  TITLE     A functional variant in ZNF512B is associated with susceptibility
            to amyotrophic lateral sclerosis in Japanese
  JOURNAL   Hum Mol Genet 20 (18), 3684-3692 (2011)
   PUBMED   21665992
  REMARK    GeneRIF: A functional SNP (rs2275294) in ZNF512B was found to be
            significantly associated with amyotrophic lateral sclerosis in
            Japanese.
REFERENCE   9  (residues 1 to 892)
  AUTHORS   Tili,E., Michaille,J.J., Liu,C.G., Alder,H., Taccioli,C.,
            Volinia,S., Calin,G.A. and Croce,C.M.
  TITLE     GAM/ZFp/ZNF512B is central to a gene sensor circuitry involving
            cell-cycle regulators, TGF{beta} effectors, Drosha and microRNAs
            with opposite oncogenic potentials
  JOURNAL   Nucleic Acids Res 38 (21), 7673-7688 (2010)
   PUBMED   20639536
  REMARK    GeneRIF: Evidence that GAM/ZFp/ZNF512B may potentially maintain
            homeostasis by affecting the levels of regulators such as E2F1 and
            Ras, by modulating miR-17-92 miRNAs, by interacting with Drosha,
            and by interfering with TGFbeta signaling.
REFERENCE   10 (residues 1 to 892)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL118506.27, BC125129.1, BC125128.1, AL834525.1 and AW453003.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3336191.1,
                                           SRR14038197.2130902.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369888.6/ ENSP00000358904.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..892
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     Protein         1..892
                     /product="zinc finger protein 512B"
                     /calculated_mol_wt=97133
     Region          1..82
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96KM6.1)"
     Region          <223..448
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau; cl46901"
                     /db_xref="CDD:481241"
     Region          323..473
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96KM6.1)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q96KM6.1)"
     Region          512..541
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(519..520,522,524..525,529,540,547,550..554,556..557)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          542..558
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          562..582
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96KM6.1)"
     Region          596..617
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          632..653
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          649..682
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96KM6.1)"
     Site            686
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96KM6.1)"
     Region          812..892
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96KM6.1)"
     CDS             1..892
                     /gene="ZNF512B"
                     /gene_synonym="GM632"
                     /coded_by="NM_020713.3:120..2798"
                     /db_xref="CCDS:CCDS13548.1"
                     /db_xref="GeneID:57473"
                     /db_xref="HGNC:HGNC:29212"
                     /db_xref="MIM:617886"
ORIGIN      
        1 mtdpfcvggr rlpgssksgp gkdgsrkevr lpmlhdppkm gmpvvrggqt vpgqaplcfd
       61 pgspasdkte gkkkgrpkae nqalrdipls lmndwkdefk ahsrvkcpns gcwlefpsiy
      121 glkyhyqrcq ggaisdrlaf pcpfceaaft sktqlekhri wnhmdrplpa skpgpisrpv
      181 tisrpvgvsk pigvskpvti gkpvgvskpi giskpvsvgr pmpvtkaipv trpvpvtkpv
      241 tvsrpmpvtk ampvtkpitv tksvpvtkpv pvtkpitvtk lvtvtkpvpv tkpvtvsrpi
      301 vvskpvtvsr piaisrhtpp ckmvlltrse nkapratgrn sgkkraadsl dtcpippkqa
      361 rpengeygps smgqssafql sadtssgsls pgsrpsggme alkaagpasp peedpertkh
      421 rrkqktpkkf tgeqpsisgt fglkglvkae dkarvhrskk qegpgpedar kkvpaapitv
      481 skeapapvah papggpeeqw qraihergea vcptcnvvtr ktlvglkkhm evcqklqdal
      541 kcqhcrkqfk skaglnyhtm aehsakpsda easeggeqee rerlrkvlkq mgrlrcpqeg
      601 cgaafsslmg yqyhqrrcgk ppcevdspsf pcthcgktyr skaghdyhvr sehtapppee
      661 ptdkspeaed plgvertpsg rvrrtsaqva vfhlqeiaed elardwtkrr mkddlvpeta
      721 rlnytrpglp tlnpqlleaw knevkekghv ncpndcceai yssvsglkah lascskgahl
      781 agkyrcllcp kefssesgvk yhilkthaen wfrtsadppp khrsqdslvp kkekkknlag
      841 gkkrgrkpke rtpeepvakl pprrddwppg crdkgargst grkvgvskap ek
//
