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    ZNF813 zinc finger protein 813 [ Homo sapiens (human) ]

    Gene ID: 126017, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF813provided by HGNC
    Official Full Name
    zinc finger protein 813provided by HGNC
    Primary source
    HGNC:HGNC:33257
    See related
    Ensembl:ENSG00000198346 AllianceGenome:HGNC:33257
    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
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-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, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 3.4), placenta (RPKM 2.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF813 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53467733..53496255)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56547295..56575852)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (53970987..53999509)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ZNF765-ZNF761 readthrough Neighboring gene Sharpr-MPRA regulatory region 10215 Neighboring gene tropomyosin 3 pseudogene 9 Neighboring gene zinc finger protein 761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11011 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53971207-53971768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53971769-53972331 Neighboring gene vomeronasal 1 receptor 102 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:53995337-53996536 Neighboring gene tropomyosin 3 pseudogene 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:54008197-54008422 Neighboring gene ribosomal protein L39 pseudogene 37 Neighboring gene vomeronasal 1 receptor 103 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54022978-54023752 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54023753-54024526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54024527-54025300 Neighboring gene zinc finger protein 331 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54041127-54041643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15071 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:54080110-54081309 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54097943-54098874 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54098875-54099804 Neighboring gene solute carrier family 7 member 3 pseudogene Neighboring gene divergent-paired related homeobox

    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. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    2. ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Yang W, et al. Theranostics, 2022. PMID 36168627, Free PMC Article
    3. The in vivo Interaction Landscape of Histones H3.1 and H3.3. Siddaway R, et al. Mol Cell Proteomics, 2022 Oct. PMID 36089195, Free PMC Article
    4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    5. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, et al. Nat Commun, 2017 Nov 27. PMID 29180619, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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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    Markers

    Homology

    Clone Names

    • FLJ16542, FLJ34141

    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 cis-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
    		  
    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 813

    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_001004301.4 → NP_001004301.2  zinc finger protein 813

      See identical proteins and their annotated locations for NP_001004301.2

      Status: VALIDATED

      Source sequence(s)
      AC022137, AK131422, DB066632, DB235327
      Consensus CDS
      CCDS46172.1
      UniProtKB/Swiss-Prot
      Q6ZN06
      Related
      ENSP00000379684.4, ENST00000396403.9
      Conserved Domains (5) summary
      smart00349
      Location:8 → 48
      KRAB; krueppel associated box
      COG5048
      Location:191 → 602
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:525 → 545
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:313 → 338
      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
      53467733..53496255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      56547295..56575852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZN06.2 GenPept UniProtKB/Swiss-Prot:Q6ZN06

    Gene LinkOut

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

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