LOCUS       NP_065914               1243 aa            linear   PRI 27-APR-2025
DEFINITION  zinc finger protein ZFAT isoform 1 [Homo sapiens].
ACCESSION   NP_065914 XP_114619
VERSION     NP_065914.2
DBSOURCE    REFSEQ: accession NM_020863.4
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 1243)
  AUTHORS   Ishikura,S., Yoshida,K., Tsunoda,T. and Shirasawa,S.
  TITLE     Death domain-associated protein DAXX regulates noncoding RNA
            transcription at the centromere through the transcription regulator
            ZFAT
  JOURNAL   J Biol Chem 298 (11), 102528 (2022)
   PUBMED   36162510
  REMARK    GeneRIF: Death domain-associated protein DAXX regulates noncoding
            RNA transcription at the centromere through the transcription
            regulator ZFAT.
REFERENCE   2  (residues 1 to 1243)
  AUTHORS   Ishikura,S., Yoshida,K., Hashimoto,S., Nakabayashi,K., Tsunoda,T.
            and Shirasawa,S.
  TITLE     CENP-B promotes the centromeric localization of ZFAT to control
            transcription of noncoding RNA
  JOURNAL   J Biol Chem 297 (4), 101213 (2021)
   PUBMED   34547289
  REMARK    GeneRIF: CENP-B promotes the centromeric localization of ZFAT to
            control transcription of noncoding RNA.
REFERENCE   3  (residues 1 to 1243)
  AUTHORS   Ishikura,S., Nakabayashi,K., Nagai,M., Tsunoda,T. and Shirasawa,S.
  TITLE     ZFAT binds to centromeres to control noncoding RNA transcription
            through the KAT2B-H4K8ac-BRD4 axis
  JOURNAL   Nucleic Acids Res 48 (19), 10848-10866 (2020)
   PUBMED   32997115
  REMARK    GeneRIF: ZFAT binds to centromeres to control noncoding RNA
            transcription through the KAT2B-H4K8ac-BRD4 axis.
REFERENCE   4  (residues 1 to 1243)
  AUTHORS   Abulaizi,A., Abula,A., Ababaikeli,G., Wan,X., Du,R. and Zhakeer,A.
  TITLE     Identification of pelvic organ prolapse risk susceptibility gene
            SNP locus in Xinjiang women
  JOURNAL   Int Urogynecol J 31 (1), 123-130 (2020)
   PUBMED   31270553
  REMARK    GeneRIF: Identification of pelvic organ prolapse risk
            susceptibility gene SNP locus in Xinjiang women.
REFERENCE   5  (residues 1 to 1243)
  AUTHORS   Doi,K., Tsunoda,T., Koyanagi,M., Tanaka,Y., Yamano,S., Fujikane,A.,
            Nishi,K., Ishikura,S. and Shirasawa,S.
  TITLE     Zfat Is Indispensable for the Development of Erythroid Cells in the
            Fetal Liver
  JOURNAL   Anticancer Res 39 (8), 4495-4502 (2019)
   PUBMED   31366551
  REMARK    GeneRIF: Zfat knockdown partially inhibited CD71(-/low)Ter119(-) to
            CD71(high)Ter119(-) transition of fetal liver erythroid progenitors
            with impairment in the elevation of CD71 expression.  Zfat plays a
            critical role for erythropoiesis in the fetal liver
REFERENCE   6  (residues 1 to 1243)
  AUTHORS   Zhu,X., Feng,T., Li,Y., Lu,Q. and Elston,R.C.
  TITLE     Detecting rare variants for complex traits using family and
            unrelated data
  JOURNAL   Genet Epidemiol 34 (2), 171-187 (2010)
   PUBMED   19847924
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 1243)
  AUTHORS   Fujimoto,T., Doi,K., Koyanagi,M., Tsunoda,T., Takashima,Y.,
            Yoshida,Y., Sasazuki,T. and Shirasawa,S.
  TITLE     ZFAT is an antiapoptotic molecule and critical for cell survival in
            MOLT-4 cells
  JOURNAL   FEBS Lett 583 (3), 568-572 (2009)
   PUBMED   19162026
  REMARK    GeneRIF: ZFAT protein is a critical regulator involved in apoptosis
            and cell survival for immune-related cells
REFERENCE   8  (residues 1 to 1243)
  AUTHORS   Koyanagi,M., Nakabayashi,K., Fujimoto,T., Gu,N., Baba,I.,
            Takashima,Y., Doi,K., Harada,H., Kato,N., Sasazuki,T. and
            Shirasawa,S.
  TITLE     ZFAT expression in B and T lymphocytes and identification of
            ZFAT-regulated genes
  JOURNAL   Genomics 91 (5), 451-457 (2008)
   PUBMED   18329245
REFERENCE   9  (residues 1 to 1243)
  AUTHORS   Shirasawa,S., Harada,H., Furugaki,K., Akamizu,T., Ishikawa,N.,
            Ito,K., Ito,K., Tamai,H., Kuma,K., Kubota,S., Hiratani,H.,
            Tsuchiya,T., Baba,I., Ishikawa,M., Tanaka,M., Sakai,K., Aoki,M.,
            Yamamoto,K. and Sasazuki,T.
  TITLE     SNPs in the promoter of a B cell-specific antisense transcript,
            SAS-ZFAT, determine susceptibility to autoimmune thyroid disease
  JOURNAL   Hum Mol Genet 13 (19), 2221-2231 (2004)
   PUBMED   15294872
  REMARK    GeneRIF: Polymorphism, Single Nucleotide in ZFAT is associated with
            autoimmune thyroid disease
REFERENCE   10 (residues 1 to 1243)
  AUTHORS   Sakai,K., Shirasawa,S., Ishikawa,N., Ito,K., Tamai,H., Kuma,K.,
            Akamizu,T., Tanimura,M., Furugaki,K., Yamamoto,K. and Sasazuki,T.
  TITLE     Identification of susceptibility loci for autoimmune thyroid
            disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by
            multipoint affected sib-pair linkage analysis in Japanese
  JOURNAL   Hum Mol Genet 10 (13), 1379-1386 (2001)
   PUBMED   11440990
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL832066.1, BC101768.1,
            AB040918.1, AC135075.5 and BC046180.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 22, 2004 this sequence version replaced NP_065914.1.
            
            Summary: This gene encodes a protein that likely binds DNA and
            functions as a transcriptional regulator involved in apoptosis and
            cell survival. This gene resides in a susceptibility locus for
            autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms. [provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: AB167738.1, SRR1660805.91402.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377838.8/ ENSP00000367069.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.22"
     Protein         1..1243
                     /product="zinc finger protein ZFAT isoform 1"
                     /note="zinc finger gene in autoimmune thyroid disease;
                     zinc finger protein 406; zinc finger protein ZFAT;
                     zinc-finger gene in AITD susceptibility region"
                     /calculated_mol_wt=138904
     Region          51..116
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P243.2)"
     Region          147..189
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P243.2)"
     Region          271..293
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          273..293
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(278,280,282,284..285,288..289,292,306,308,312..313,
                     316..317,320,333,335,337,339..340,343..344,348)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          285..309
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:463886"
     Region          299..323
                     /region_name="zf-H2C2_5"
                     /note="C2H2-type zinc-finger domain; pfam13909"
                     /db_xref="CDD:404746"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          328..349
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          356..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          406..426
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(411,413,415,417..418,421..422,425,439,441,445..446,
                     449..450,453,465,467,469,471..472,475..476)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          434..454
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          460..478
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          534..570
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P243.2)"
     Region          603..625
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P243.2)"
     Region          638..705
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P243.2)"
     Region          744..764
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(749,751,753,755..756,759..760,763,777,779,783..784,
                     787,818,821,837,839,841,843..844,847..848,851)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          772..822
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          832..851
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          882..903
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(887,889,892,894..895,898..899,902,916,918,922..923,
                     926..927,930,944,946,948,950..951,954..955,958)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          911..931
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          939..959
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          966..988
                     /region_name="zf-H2C2_5"
                     /note="C2H2-type zinc-finger domain; pfam13909"
                     /db_xref="CDD:404746"
     Region          968..988
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          996..1017
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1043..1061
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <1145..1242
                     /region_name="rne"
                     /note="ribonuclease E; Reviewed; PRK10811"
                     /db_xref="CDD:236766"
     CDS             1..1243
                     /gene="ZFAT"
                     /gene_synonym="AITD3; ZFAT1; ZNF406"
                     /coded_by="NM_020863.4:169..3900"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47924.1"
                     /db_xref="GeneID:57623"
                     /db_xref="HGNC:HGNC:19899"
                     /db_xref="MIM:610931"
ORIGIN      
        1 metraaenta ifmckccnlf spnqsellsh vsekhmeegv nvdeiiiplr plstpeppns
       61 sktgdeflvm krkrgrpkgs tkkssteeel aenivspted splapeegns lppsslecsk
      121 ccrkfsntrq lrkhiciivl nlgeeegeag nesdlelekk ckeddrekas krprsqktek
      181 vqkisgkear qlsgakkpii svvltaheai pgatkivpve agppetgatn settsadlvp
      241 rrgyqeyaiq qtpyeqpmks srlgptqlki ftceycnkvf kfkhslqahl rihtnekpyk
      301 cpqcsyasai kanlnvhlrk htgekfacdy csftclskgh lkvhiervhk kikqhcrfck
      361 kkysdvknli khirdahdpq dkkvkealde lclmtregkr qllydchice rkfkneldrd
      421 rhmlvhgdkw pfacelcghg atkyqalelh vrkhpfvyvc avcrkkfvss irlrthikev
      481 hgaaqealvf tssinqsfcl lepggdiqqe algdqlqlve eefalqgvna lkeeacpgdt
      541 qleegrkepe apgempapav hlaspqaest alppcelett vvsssdlhsq evvsddfllk
      601 ndtssaeaha apekppdmqh rssvqtqgev itlllskaqs agsdqeshga qsplgegqnm
      661 avlsagdpdp srclrsnpae asdllppvag ggdtithqpd sckaapehrs gitafmkvln
      721 slqkkqmnts lcerirkvyg dleceycgkl fwyqvhfdmh vrthtrehly ycsqchyssi
      781 tknclkrhvi qkhsnillkc ptdgcdystp dkyklqahlk vhtaldkrsy scpvceksfs
      841 edrlikshik tnhpevsmst isevlgrrvq lkgligkram kcpycdfyfm kngsdlqrhi
      901 wahegvkpfk cslceyatrs ksnlkahmnr hstekthlcd mcgkkfkskg tlkshkllht
      961 adgkqfkctv cdytaaqkpq llrhmeqhvs fkpfrcahch yscnisgslk rhynrkhpne
     1021 eyanvgtgel aaevliqqgg lkcpvcsfvy gtkwefnrhl knkhglkvve idgdpkweta
     1081 teapeepstq ylhiteaeed vqgtqaavaa lqdlrytses gdrldptavn ilqqiielga
     1141 ethdatalas vvamapgtvt vvkqvteeep ssnhtvmiqe tvqqasvela eqhhlvvssd
     1201 dvegietvtv ytqggeasef ivyvqeamqp veeqaveqpa qel
//
