LOCUS       NP_001103279             536 aa            linear   PRI 12-OCT-2024
DEFINITION  zinc finger protein 57 homolog isoform 1 [Homo sapiens].
ACCESSION   NP_001103279 XP_011512872 XP_294093 XP_941191 XP_941229 XP_945837
VERSION     NP_001103279.2
DBSOURCE    REFSEQ: accession NM_001109809.5
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 536)
  AUTHORS   Moon,S.W., Mo,H.Y., Choi,E.J., Yoo,N.J. and Lee,S.H.
  TITLE     Mutational Alterations of DNA Methylation-related Genes CTCF,
            ZFP57, and ATF7IP Genes in Colon Cancers
  JOURNAL   Appl Immunohistochem Mol Morphol 30 (2), e16-e20 (2022)
   PUBMED   35175239
  REMARK    GeneRIF: Mutational Alterations of DNA Methylation-related Genes
            CTCF, ZFP57, and ATF7IP Genes in Colon Cancers.
REFERENCE   2  (residues 1 to 536)
  AUTHORS   Jiang,W., Shi,J., Zhao,J., Wang,Q., Cong,D., Chen,F., Zhang,Y.,
            Liu,Y., Zhao,J., Chen,Q., Gu,L., Zhou,W., Wang,C., Fang,Z.,
            Geng,S., Xie,W., Chen,L.N., Yang,Y., Bai,Y., Lin,H. and Li,X.
  TITLE     ZFP57 dictates allelic expression switch of target imprinted genes
  JOURNAL   Proc Natl Acad Sci U S A 118 (5) (2021)
   PUBMED   33500348
  REMARK    GeneRIF: ZFP57 dictates allelic expression switch of target
            imprinted genes.
REFERENCE   3  (residues 1 to 536)
  AUTHORS   Monteagudo-Sanchez,A., Hernandez Mora,J.R., Simon,C., Burton,A.,
            Tenorio,J., Lapunzina,P., Clark,S., Esteller,M., Kelsey,G.,
            Lopez-Siguero,J.P., de Nanclares,G.P., Torres-Padilla,M.E. and
            Monk,D.
  TITLE     The role of ZFP57 and additional KRAB-zinc finger proteins in the
            maintenance of human imprinted methylation and multi-locus
            imprinting disturbances
  JOURNAL   Nucleic Acids Res 48 (20), 11394-11407 (2020)
   PUBMED   33053156
  REMARK    GeneRIF: The role of ZFP57 and additional KRAB-zinc finger proteins
            in the maintenance of human imprinted methylation and multi-locus
            imprinting disturbances.
REFERENCE   4  (residues 1 to 536)
  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   5  (residues 1 to 536)
  AUTHORS   Helleboid,P.Y., Heusel,M., Duc,J., Piot,C., Thorball,C.W.,
            Coluccio,A., Pontis,J., Imbeault,M., Turelli,P., Aebersold,R. and
            Trono,D.
  TITLE     The interactome of KRAB zinc finger proteins reveals the
            evolutionary history of their functional diversification
  JOURNAL   EMBO J 38 (18), e101220 (2019)
   PUBMED   31403225
REFERENCE   6  (residues 1 to 536)
  AUTHORS   Li,X., Ito,M., Zhou,F., Youngson,N., Zuo,X., Leder,P. and
            Ferguson-Smith,A.C.
  TITLE     A maternal-zygotic effect gene, Zfp57, maintains both maternal and
            paternal imprints
  JOURNAL   Dev Cell 15 (4), 547-557 (2008)
   PUBMED   18854139
REFERENCE   7  (residues 1 to 536)
  AUTHORS   Mackay,D.J., Callaway,J.L., Marks,S.M., White,H.E., Acerini,C.L.,
            Boonen,S.E., Dayanikli,P., Firth,H.V., Goodship,J.A., Haemers,A.P.,
            Hahnemann,J.M., Kordonouri,O., Masoud,A.F., Oestergaard,E.,
            Storr,J., Ellard,S., Hattersley,A.T., Robinson,D.O. and Temple,I.K.
  TITLE     Hypomethylation of multiple imprinted loci in individuals with
            transient neonatal diabetes is associated with mutations in ZFP57
  JOURNAL   Nat Genet 40 (8), 949-951 (2008)
   PUBMED   18622393
  REMARK    GeneRIF: Study reports mutations in ZFP57, which encodes a
            zinc-finger transcription factor expressed in early development, in
            seven pedigrees with a shared pattern of mosaic hypomethylation and
            a conserved range of clinical features.
REFERENCE   8  (residues 1 to 536)
  AUTHORS   Alonso,M.B., Zoidl,G., Taveggia,C., Bosse,F., Zoidl,C., Rahman,M.,
            Parmantier,E., Dean,C.H., Harris,B.S., Wrabetz,L., Muller,H.W.,
            Jessen,K.R. and Mirsky,R.
  TITLE     Identification and characterization of ZFP-57, a novel zinc finger
            transcription factor in the mammalian peripheral nervous system
  JOURNAL   J Biol Chem 279 (24), 25653-25664 (2004)
   PUBMED   15070898
REFERENCE   9  (residues 1 to 536)
  AUTHORS   Okazaki,S., Tanase,S., Choudhury,B.K., Setoyama,K., Miura,R.,
            Ogawa,M. and Setoyama,C.
  TITLE     A novel nuclear protein with zinc fingers down-regulated during
            early mammalian cell differentiation
  JOURNAL   J Biol Chem 269 (9), 6900-6907 (1994)
   PUBMED   8120052
REFERENCE   10 (residues 1 to 536)
  AUTHORS   Temple,I.K. and Mackay,D.J.G.
  TITLE     Diabetes Mellitus, 6q24-Related Transient Neonatal
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301706
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL645936.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Sep 29, 2018 this sequence version replaced
            XP_011512872.1, NP_001103279.1.
            
            Summary: The protein encoded by this gene is a zinc finger protein
            containing a KRAB domain. Studies in mouse suggest that this
            protein may function as a transcriptional repressor. Mutations in
            this gene have been associated with transient neonatal diabetes
            mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            CDS exon combination :: BC157878.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376883.2/ ENSP00000366080.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..536
                     /product="zinc finger protein 57 homolog isoform 1"
                     /note="zfp-57; zinc finger protein 698; zinc finger
                     protein 57 homolog"
                     /calculated_mol_wt=61227
     Region          44..104
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          177..197
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <185..430
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          205..225
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(210,212,214,216..217,220..221,224,238,240,244..245,
                     248..249,252,266,268,270,272..273,276..277,280)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          233..253
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          261..281
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          386..406
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(391,393,395,397..398,401..402,405,419,421,425..426,
                     429..430,433,447,449,451,453..454,457..458)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          414..434
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          442..460
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..536
                     /gene="ZFP57"
                     /gene_synonym="bA145L22; bA145L22.2; C6orf40; TNDM1;
                     ZNF698"
                     /coded_by="NM_001109809.5:455..2065"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS43436.2"
                     /db_xref="GeneID:346171"
                     /db_xref="HGNC:HGNC:18791"
                     /db_xref="MIM:612192"
ORIGIN      
        1 mfeqlkpiep vqktlpwvge vaatlqeamk rdcwrearvk kkpvtfedva vnftqeewdc
       61 ldasqrvlyq dvmsetfknl tsvariflhk pelitkleqe eeqwrefvhl pnteglsegk
      121 kkelreqhps lrdegtsddk vflacrgagq cplsapagtm drtrvlqasq agppffcytc
      181 gkcfsrrsyl yshqfvhnpk ltnscsqcgk lfrspkslsy hrrmhlgerp fcctlcdkty
      241 cdasglsrhr rvhlgyrphs csvcgksfrd qselkrhqki hqnqepvdgn qectlripgt
      301 qaefqtpiar sqrsiqglld vnhapvarsq epifrtegpm aqnqasvlkn qapvtrtqap
      361 itgtlcqdar snshpvkpsr lnvfccphcs ltfskksyls rhqkahltep pnycfhcsks
      421 fssfsrlvrh qqthwkqksy lcpicdlsfg ekeglmdhwr gykgkdlcqs shhkcrvilg
      481 qwlgfshdvp tmageewkhg gdqsppriht prrrglreka ckgdktkeav silkhk
//
