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

Gene ID: 170959, updated on 4-May-2020

Summary

Official Symbol
ZNF431provided by HGNC
Official Full Name
zinc finger protein 431provided by HGNC
Primary source
HGNC:HGNC:20809
See related
Ensembl:ENSG00000196705
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
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

Genomic context

See ZNF431 in Genome Data Viewer
Location:
19p12
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (21142009..21196053)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (21324813..21371070)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 714 Neighboring gene CRISPRi-validated cis-regulatory element chr19.3196 Neighboring gene vomeronasal 1 receptor 81 pseudogene Neighboring gene ribosomal protein L7a pseudogene 10 Neighboring gene vomeronasal 1 receptor 82 pseudogene Neighboring gene ribosomal protein L36a pseudogene 51 Neighboring gene cytochrome c oxidase assembly protein COX16 homolog, mitochondrial 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
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

NCBI Reference Sequences (RefSeq)

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
    Q8TF32
    UniProtKB/TrEMBL
    A0A024R7Q8
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    21142009..21196053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527750.2XP_011526052.1  zinc finger protein 431 isoform X1

    Conserved Domains (5) summary
    smart00349
    Location:51112
    KRAB; krueppel associated box
    COG5048
    Location:218570
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:475495
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:5190
    KRAB; KRAB box
    pfam13465
    Location:264288
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. XR_001753621.1 RNA Sequence

  2. XR_001753620.1 RNA Sequence

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