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    ZNF57 zinc finger protein 57 [ Homo sapiens (human) ]

    Gene ID: 126295, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF57provided by HGNC
    Official Full Name
    zinc finger protein 57provided by HGNC
    Primary source
    HGNC:HGNC:13125
    See related
    Ensembl:ENSG00000171970 AllianceGenome:HGNC:13125
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZNF424
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 9.6), esophagus (RPKM 4.1) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF57 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2900928..2918473)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2876161..2892540)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2900926..2918471)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 556 Neighboring gene ribosomal protein L35a pseudogene 38 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2887583-2887760 Neighboring gene zinc finger protein 57 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2900543-2901114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13722 Neighboring gene zinc finger protein 77 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2982456-2982974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2982975-2983491 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:2984010-2984526 Neighboring gene TLE family member 6, subcortical maternal complex member

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. TMIGD2 is an orchestrator and therapeutic target on human acute myeloid leukemia stem cells. Wang H, et al. Nat Commun, 2024 Jan 2. PMID 38167704, Free PMC Article
    2. ZNF424, a novel human KRAB/C2H2 zinc finger protein, suppresses NFAT and p21 pathway. Wang Y, et al. BMB Rep, 2010 Mar. PMID 20356463
    3. ZNF424 Induces Apoptosis and Inhibits Proliferation in Lung Carcinoma Cells. Liu W, et al. Curr Mol Med, 2018. PMID 29974829, Free PMC Article
    4. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. Lichter P, et al. Genomics, 1992 Aug. PMID 1505991
    5. Characterization and mapping of human genes encoding zinc finger proteins. Bray P, et al. Proc Natl Acad Sci U S A, 1991 Nov 1. PMID 1946370, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    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 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 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

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    Preferred Names
    zinc finger protein 57
    Names
    zinc finger protein 424

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001319083.2 → NP_001306012.1  zinc finger protein 57 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5'-terminal exon, which results in the use of a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK302165, EF534355
      Consensus CDS
      CCDS82274.1
      UniProtKB/TrEMBL
      G3V131
      Related
      ENSP00000430223.1, ENST00000523428.5
      Conserved Domains (3) summary
      COG5048
      Location:148 → 437
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:222 → 242
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:86 → 102
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_173480.3 → NP_775751.1  zinc finger protein 57 isoform 1

      See identical proteins and their annotated locations for NP_775751.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      EF534355
      Consensus CDS
      CCDS12098.1
      UniProtKB/Swiss-Prot
      Q68EA5, Q8N6R9
      UniProtKB/TrEMBL
      A5HJR3
      Related
      ENSP00000303696.5, ENST00000306908.10
      Conserved Domains (5) summary
      smart00349
      Location:4 → 44
      KRAB; krueppel associated box
      COG5048
      Location:138 → 546
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:254 → 274
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:267 → 291
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      2900928..2918473
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527682.3 → XP_011525984.1  zinc finger protein 57 isoform X1

      See identical proteins and their annotated locations for XP_011525984.1

      UniProtKB/TrEMBL
      G3V131
      Conserved Domains (3) summary
      COG5048
      Location:148 → 437
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:222 → 242
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:86 → 102
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      2876161..2892540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68EA5.3 GenPept UniProtKB/Swiss-Prot:Q68EA5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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