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

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

    Summary

    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

    See ZNF431 in Genome Data Viewer
    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    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_001319124.2NP_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:3596
      KRAB; krueppel associated box
      COG5048
      Location:202554
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:459479
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3574
      KRAB; KRAB box
      pfam13465
      Location:248272
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001319126.2NP_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:110462
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:367387
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:156180
      zf-H2C2_2; Zinc-finger double domain
    3. NM_001319127.2NP_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:94446
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:351371
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:140164
      zf-H2C2_2; Zinc-finger double domain
    4. NM_133473.4NP_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:3595
      KRAB; krueppel associated box
      COG5048
      Location:201553
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:458478
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3574
      KRAB; KRAB box
      pfam13465
      Location:247271
      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