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    ZFP57 ZFP57 zinc finger protein [ Homo sapiens (human) ]

    Gene ID: 346171, updated on 3-May-2024

    Summary

    Official Symbol
    ZFP57provided by HGNC
    Official Full Name
    ZFP57 zinc finger proteinprovided by HGNC
    Primary source
    HGNC:HGNC:18791
    See related
    Ensembl:ENSG00000204644 MIM:612192; AllianceGenome:HGNC:18791
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TNDM1; ZNF698; C6orf40; bA145L22; bA145L22.2
    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]
    Expression
    Biased expression in heart (RPKM 2.7), brain (RPKM 1.0) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ZFP57 in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (29672392..29681152, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (29547090..29555881, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (29640169..29648929, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SUMO2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:29610193-29610692 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:29616349-29616969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:29622853-29623353 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:29627633-29628069 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:29628451-29629365 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:29629366-29630280 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:29630281-29631194 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:29634045-29634654 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:29634655-29635264 Neighboring gene myelin oligodendrocyte glycoprotein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:29647510-29648030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:29648031-29648552 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:29671001-29671115 Neighboring gene zinc finger DHHC-type containing 20 pseudogene 1 Neighboring gene HLA complex group 4 pseudogene 11

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autosome genomic imprinting IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    zinc finger protein 57 homolog
    Names
    zfp-57
    zinc finger protein 698

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013045.1 RefSeqGene

      Range
      1003..9672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001109809.5NP_001103279.2  zinc finger protein 57 homolog isoform 1

      See identical proteins and their annotated locations for NP_001103279.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL645936
      Consensus CDS
      CCDS43436.2
      UniProtKB/TrEMBL
      A0A1U9X8V4, A0A1U9X8V5, A0A1U9X8Y0, A0A1U9X8Y2
      Related
      ENSP00000366080.2, ENST00000376883.2
      Conserved Domains (3) summary
      smart00349
      Location:44104
      KRAB; krueppel associated box
      COG5048
      Location:185430
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:205225
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001366333.2NP_001353262.1  zinc finger protein 57 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL645936
      Consensus CDS
      CCDS93878.1
      UniProtKB/TrEMBL
      A0A1U9X8Y0, A0A1U9X8Y2, A0A7I2S1M6
      Related
      ENSP00000418259.2, ENST00000488757.6
      Conserved Domains (3) summary
      COG5048
      Location:113358
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:133153
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02581
      Location:132
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      29672392..29681152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      938100..938841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1158865..1167660 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      937938..946690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      937506..946257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      937766..946523 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      937893..946645 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      981424..990182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      29547090..29555881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)