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

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

Location:: 19p12

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (21142040..21196053)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (21280716..21334720)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (21324843..21378856)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-53117 (e-PCR)
- UniSTS:56610

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

NoName (e-PCR)
- UniSTS:480893

NoName (e-PCR)
- UniSTS:486333

NoName (e-PCR)
- UniSTS:481985

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

NG_051229.1 RefSeqGene

Range

5032..59045

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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

NR_138052.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC010620, CB242592
NR_138053.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC010620, CB242592