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    ZNF430 zinc finger protein 430 [ Homo sapiens (human) ]

    Gene ID: 80264, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF430provided by HGNC
    Official Full Name
    zinc finger protein 430provided by HGNC
    Primary source
    HGNC:HGNC:20808
    See related
    Ensembl:ENSG00000118620 AllianceGenome:HGNC:20808
    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. Involved in substantia nigra development. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 6.0), thyroid (RPKM 5.3) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (21020657..21060050)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (21159242..21198699)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (21203463..21242856)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene keratin 18 pseudogene 40 Neighboring gene uncharacterized LOC112268247 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:21183049-21183582 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:21203153-21203746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:21203747-21204338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:21206984-21207484 Neighboring gene vomeronasal 1 receptor 80 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14381 Neighboring gene zinc finger protein 714 Neighboring gene RNA, 5S ribosomal pseudogene 469

    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. Quantitative proteomic analysis of human substantia nigra in Alzheimer's disease, Huntington's disease and Multiple sclerosis. Chen S, et al. Neurochem Res, 2012 Dec. PMID 22926577
    2. A whole genome screen for HIV restriction factors. Liu L, et al. Retrovirology, 2011 Nov 14. PMID 22082156, Free PMC Article
    3. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. Pech MF, et al. Elife, 2019 Aug 27. PMID 31452512, Free PMC Article
    4. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (12) 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)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of zinc finger protein 430 (ZNF430) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13659, MGC133232, DKFZp762K012

    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 DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 430

    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_001172671.2 → NP_001166142.1  zinc finger protein 430 isoform 2

      See identical proteins and their annotated locations for NP_001166142.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.
      Source sequence(s)
      AC012627, AK290475, BC111776, DB255551
      UniProtKB/TrEMBL
      Q2NKJ9
      Conserved Domains (5) summary
      smart00349
      Location:35 → 95
      KRAB; krueppel associated box
      COG5048
      Location:201 → 561
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:290 → 310
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:35 → 74
      KRAB; KRAB box
      pfam13465
      Location:247 → 271
      zf-H2C2_2; Zinc-finger double domain

    2. NM_025189.4 → NP_079465.3  zinc finger protein 430 isoform 1

      See identical proteins and their annotated locations for NP_079465.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC012627, AK290475, DB255551
      Consensus CDS
      CCDS32978.1
      UniProtKB/Swiss-Prot
      Q86V70, Q9H8G1
      Related
      ENSP00000261560.4, ENST00000261560.10
      Conserved Domains (5) summary
      smart00349
      Location:35 → 96
      KRAB; krueppel associated box
      COG5048
      Location:202 → 562
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:291 → 311
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:35 → 74
      KRAB; KRAB box
      pfam13465
      Location:248 → 272
      zf-H2C2_2; Zinc-finger double domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      21020657..21060050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439464.1 → XP_047295420.1  zinc finger protein 430 isoform X1

    2. XM_047439465.1 → XP_047295421.1  zinc finger protein 430 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315962.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      363933..377460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      21159242..21198699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322229.1 → XP_054178204.1  zinc finger protein 430 isoform X1

    2. XM_054322230.1 → XP_054178205.1  zinc finger protein 430 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8G1.3 GenPept UniProtKB/Swiss-Prot:Q9H8G1

    Gene LinkOut

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

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