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

Gene ID: 346171, updated on 7-Jun-2020

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
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

Genomic context

See ZFP57 in Genome Data Viewer
Location:
6p22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (29672392..29681152, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (29640169..29644931, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SUMO2 pseudogene 1 Neighboring gene myelin oligodendrocyte glycoprotein 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA methylation involved in embryo development IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gene expression by genetic imprinting IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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..9763
    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/Swiss-Prot
    Q9NU63
    UniProtKB/TrEMBL
    A0A1U9X8V5, B7ZW61
    Related
    ENSP00000418259.1, ENST00000488757.5
    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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

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

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

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

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

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

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

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

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

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