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, J... See more...

Aliases for ZNF431 Gene

Aliases for ZNF431 Gene

  • Zinc Finger Protein 431 2 3 4 5
  • KIAA1969 2 4
  • ZNF431 5

External Ids for ZNF431 Gene

Previous GeneCards Identifiers for ZNF431 Gene

  • GC19P021100
  • GC19P021116
  • GC19P021324
  • GC19P020815

Summaries for ZNF431 Gene

Entrez Gene Summary for ZNF431 Gene

  • 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]

GeneCards Summary for ZNF431 Gene

ZNF431 (Zinc Finger Protein 431) is a Protein Coding gene. Diseases associated with ZNF431 include Cleft Palate, Isolated. Among its related pathways are Gene Expression and Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and core promoter sequence-specific DNA binding. An important paralog of this gene is ZNF430.

UniProtKB/Swiss-Prot Summary for ZNF431 Gene

  • Sequence-specific DNA binding transcriptional repressor. Represses target gene transcription by recruiting HDAC1 and HDAC2 histone deacetylases. Acts as a specific transcriptional repressor for PTCH1 during embryonic development. Required for osteoblast differentiation and sonic hedgehog/SHH signaling response. Binds to the consensus site 5'-GCGCCC-3' in the promoter of PTCH1 (By similarity).

Additional gene information for ZNF431 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF431 Gene

Genomics for ZNF431 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF431 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF431 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF431

Top Transcription factor binding sites by QIAGEN in the ZNF431 gene promoter:
  • AP-4
  • AREB6
  • E47
  • Evi-1
  • GATA-1
  • Msx-1
  • MyoD
  • Pax-2
  • Pax-2a

Genomic Locations for ZNF431 Gene

Genomic Locations for ZNF431 Gene
chr19:21,142,009-21,196,053
(GRCh38/hg38)
Size:
54,045 bases
Orientation:
Plus strand
chr19:21,324,827-21,373,034
(GRCh37/hg19)
Size:
48,208 bases
Orientation:
Plus strand

Genomic View for ZNF431 Gene

Genes around ZNF431 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF431 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF431 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF431 Gene

Proteins for ZNF431 Gene

  • Protein details for ZNF431 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF32-ZN431_HUMAN
    Recommended name:
    Zinc finger protein 431
    Protein Accession:
    Q8TF32
    Secondary Accessions:
    • A8KAK7
    • Q8IWC4

    Protein attributes for ZNF431 Gene

    Size:
    576 amino acids
    Molecular mass:
    67217 Da
    Quaternary structure:
    • Interacts (via KRAB domain) with HDAC2; the interaction is direct. Interacts (via KRAB domain) with HDAC1 (By similarity).
    SequenceCaution:
    • Sequence=BAB85555.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ZNF431 Gene

Post-translational modifications for ZNF431 Gene

  • Ubiquitination at Lys5
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZNF431 Gene

Domains & Families for ZNF431 Gene

Gene Families for ZNF431 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF431 Gene

InterPro:
Blocks:
  • KRAB box
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF431 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 431 (ZN431_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TF32

UniProtKB/Swiss-Prot:

ZN431_HUMAN :
  • The KRAB domain is necessary for its repressive activity.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Domain:
  • The KRAB domain is necessary for its repressive activity.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF431: view

Function for ZNF431 Gene

Molecular function for ZNF431 Gene

UniProtKB/Swiss-Prot Function:
Sequence-specific DNA binding transcriptional repressor. Represses target gene transcription by recruiting HDAC1 and HDAC2 histone deacetylases. Acts as a specific transcriptional repressor for PTCH1 during embryonic development. Required for osteoblast differentiation and sonic hedgehog/SHH signaling response. Binds to the consensus site 5'-GCGCCC-3' in the promoter of PTCH1 (By similarity).

Phenotypes From GWAS Catalog for ZNF431 Gene

Gene Ontology (GO) - Molecular Function for ZNF431 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF431: view
genes like me logo Genes that share phenotypes with ZNF431: view

Animal Model Products

CRISPR Products

miRNA for ZNF431 Gene

miRTarBase miRNAs that target ZNF431

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF431

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF431 Gene

Localization for ZNF431 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF431 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF431 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ZNF431 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with ZNF431: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZNF431 Gene

Pathways & Interactions for ZNF431 Gene

genes like me logo Genes that share pathways with ZNF431: view

Pathways by source for ZNF431 Gene

2 Reactome pathways for ZNF431 Gene
1 KEGG pathway for ZNF431 Gene

Interacting Proteins for ZNF431 Gene

Gene Ontology (GO) - Biological Process for ZNF431 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0006355 regulation of transcription, DNA-templated IEA,IBA 21873635
GO:0030154 cell differentiation IEA --
GO:0043433 negative regulation of DNA-binding transcription factor activity ISS --
genes like me logo Genes that share ontologies with ZNF431: view

No data available for SIGNOR curated interactions for ZNF431 Gene

Drugs & Compounds for ZNF431 Gene

No Compound Related Data Available

Transcripts for ZNF431 Gene

mRNA/cDNA for ZNF431 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF431

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF431 Gene

No ASD Table

Relevant External Links for ZNF431 Gene

GeneLoc Exon Structure for
ZNF431

Expression for ZNF431 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF431 Gene

mRNA differential expression in normal tissues according to GTEx for ZNF431 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.3).

Protein differential expression in normal tissues from HIPED for ZNF431 Gene

This gene is overexpressed in Cervix (60.1) and Serum (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF431 Gene



Protein tissue co-expression partners for ZNF431 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF431

SOURCE GeneReport for Unigene cluster for ZNF431 Gene:

Hs.687547

Evidence on tissue expression from TISSUES for ZNF431 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ZNF431: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF431 Gene

Orthologs for ZNF431 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF431 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNF431 30 31
  • 99.19 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zfp493 31
  • 61 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 55 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 51 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 39 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 53 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 32 (a)
ManyToMany
-- 31
  • 32 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for ZNF431 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ZNF431 Gene

ENSEMBL:
Gene Tree for ZNF431 (if available)
TreeFam:
Gene Tree for ZNF431 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF431: view image

Paralogs for ZNF431 Gene

(514) SIMAP similar genes for ZNF431 Gene using alignment to 5 proteins:

  • ZN431_HUMAN
  • M0QXY3_HUMAN
  • M0QZG4_HUMAN
  • M0QZN7_HUMAN
  • M0R1H8_HUMAN
genes like me logo Genes that share paralogs with ZNF431: view

Variants for ZNF431 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF431 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs193921015 Uncertain Significance: Malignant tumor of prostate 21,183,324(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs17445374 - p.Asp3Gly

Additional dbSNP identifiers (rs#s) for ZNF431 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF431 Gene

Variant ID Type Subtype PubMed ID
dgv1734n106 CNV deletion 24896259
dgv510e201 CNV deletion 23290073
dgv82e19 CNV loss 19470904
esv2660807 CNV deletion 23128226
esv2665276 CNV deletion 23128226
esv2718324 CNV deletion 23290073
esv2718325 CNV deletion 23290073
esv3556170 CNV deletion 23714750
esv3643917 CNV loss 21293372
esv4924 OTHER complex 18987735
esv5243 CNV loss 18987735
nsv1061327 CNV gain 25217958
nsv1065384 CNV loss 25217958
nsv1072871 CNV deletion 25765185
nsv1146999 CNV deletion 26484159
nsv458377 CNV gain 19166990
nsv578809 CNV gain 21841781
nsv960811 CNV duplication 23825009

Variation tolerance for ZNF431 Gene

Residual Variation Intolerance Score: 51.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF431 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF431

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF431 Gene

Disorders for ZNF431 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF431 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cleft palate, isolated
  • cpi
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ZNF431: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF431 Gene

Publications for ZNF431 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for ZNF431 Gene

Sources for ZNF431 Gene