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    ZNF431 zinc finger protein 431 [ Homo sapiens (human) ]

    Gene ID: 170959, updated on 23-Nov-2023

    Summary

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    Official Symbol
    ZNF431provided by HGNC
    Official Full Name
    zinc finger protein 431provided by HGNC
    Primary source
    HGNC:HGNC:20809
    See related
    Ensembl:ENSG00000196705 MIM:619505; AllianceGenome:HGNC:20809
    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
    ZFP932
    Summary
    This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein may negatively regulate transcription of target genes, including the hedgehog signaling pathway receptor patched 1, by interacting with histone deacetylases. Mutations in this gene may be associated with non-syndromic facial clefting in human patients. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in ovary (RPKM 3.5), thyroid (RPKM 3.0) and 24 other tissues See more
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    Genomic context

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    Location:
    19p12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (21142040..21196053)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (21280716..21334720)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (21324843..21378856)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 714 Neighboring gene RNA, 5S ribosomal pseudogene 469 Neighboring gene CRISPRi-validated cis-regulatory element chr19.3196 Neighboring gene MPRA-validated peak3406 silencer Neighboring gene vomeronasal 1 receptor 81 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14382 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:21326130-21327329 Neighboring gene ribosomal protein L7a pseudogene 10 Neighboring gene vomeronasal 1 receptor 82 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:21404287-21404882 Neighboring gene ribosomal protein L36a pseudogene 51 Neighboring gene MPRA-validated peak3409 silencer Neighboring gene COX16 pseudogene 1 Neighboring gene vomeronasal 1 receptor 83 pseudogene

    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. GWAS reveals new recessive loci associated with non-syndromic facial clefting. Camargo M, et al. Eur J Med Genet, 2012 Oct. PMID 22750566, Free PMC Article
    2. A novel KRAB domain-containing zinc finger transcription factor ZNF431 directly represses Patched1 transcription. He Z, et al. J Biol Chem, 2011 Mar 4. PMID 21177534, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
    4. Comparative analysis of virus-host interactomes with a mammalian high-throughput protein complementation assay based on Gaussia princeps luciferase. Neveu G, et al. Methods, 2012 Dec. PMID 22898364, Free PMC Article
    5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242

    See all (16) 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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1969, DKFZp313E0830

    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 RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 431

    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.

    Genomic

    1. NG_051229.1 RefSeqGene

      Range
      5032..59045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001319124.2 → NP_001306053.1  zinc finger protein 431 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB075849, AC010620, AK308127, BC040506
      UniProtKB/Swiss-Prot
      Q8TF32
      Conserved Domains (5) summary
      smart00349
      Location:35 → 96
      KRAB; krueppel associated box
      COG5048
      Location:202 → 554
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:459 → 479
      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

    2. NM_001319126.2 → NP_001306055.1  zinc finger protein 431 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR, contains an alternate exon in the 5' coding region, and uses an alternate frameshifted start codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB075849, AC010620, BC040506, BX647597, HY034806
      UniProtKB/Swiss-Prot
      Q8TF32
      Conserved Domains (3) summary
      COG5048
      Location:110 → 462
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:367 → 387
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:156 → 180
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001319127.2 → NP_001306056.1  zinc finger protein 431 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site and contains an alternate exon in its 5' UTR, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AB075849, AC010620, BC040506, DA851383
      UniProtKB/Swiss-Prot
      Q8TF32
      Conserved Domains (3) summary
      COG5048
      Location:94 → 446
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:351 → 371
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:140 → 164
      zf-H2C2_2; Zinc-finger double domain

    4. NM_133473.4 → NP_597730.2  zinc finger protein 431 isoform 2

      See identical proteins and their annotated locations for NP_597730.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC010620, BC040506, HY034806
      Consensus CDS
      CCDS32979.1
      UniProtKB/Swiss-Prot
      A8KAK7, Q8IWC4, Q8TF32
      Related
      ENSP00000308578.6, ENST00000311048.11
      Conserved Domains (5) summary
      smart00349
      Location:35 → 95
      KRAB; krueppel associated box
      COG5048
      Location:201 → 553
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:458 → 478
      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

    RNA

    1. NR_138052.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010620, CB242592

    2. NR_138053.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010620, CB242592

    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
      21142040..21196053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007066665.1 RNA Sequence

    2. XR_007066666.1 RNA Sequence

    3. XR_007066668.1 RNA Sequence

    4. XR_007066670.1 RNA Sequence

    5. XR_007066664.1 RNA Sequence

    6. XR_001753620.2 RNA Sequence

    7. XR_007066667.1 RNA Sequence

    8. XR_007066669.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      21280716..21334720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485115.1 RNA Sequence

    2. XR_008485117.1 RNA Sequence

    3. XR_008485119.1 RNA Sequence

    4. XR_008485121.1 RNA Sequence

    5. XR_008485114.1 RNA Sequence

    6. XR_008485116.1 RNA Sequence

    7. XR_008485118.1 RNA Sequence

    8. XR_008485120.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF32.2 GenPept UniProtKB/Swiss-Prot:Q8TF32

    Gene LinkOut

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

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