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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

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