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GATA5 GATA binding protein 5 [ Homo sapiens (human) ]

Gene ID: 140628, updated on 17-May-2023

Summary

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Official Symbol
GATA5provided by HGNC
Official Full Name
GATA binding protein 5provided by HGNC
Primary source
HGNC:HGNC:15802
See related
Ensembl:ENSG00000130700 MIM:611496; AllianceGenome:HGNC:15802
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
CHTD5; GATAS; bB379O24.1
Summary
The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]
Expression
Biased expression in duodenum (RPKM 4.8), small intestine (RPKM 4.6) and 13 other tissues See more
Orthologs
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Genomic context

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See GATA5 in Genome Data Viewer
Location:
20q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62463497..62475995, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64260442..64272970, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61038553..61051051, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61017225-61017725 Neighboring gene Sharpr-MPRA regulatory region 3586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61048659-61049319 Neighboring gene uncharacterized LOC105372711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61059580-61060461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61060462-61061342

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. Anisomycin-induced GATA-6 degradation accompanying a decrease of proliferation of colorectal cancer cell. Ushijima H, et al. Biochem Biophys Res Commun, 2016 Sep 9. PMID 27404124
  2. Epigenetic and genetic variation in GATA5 is associated with gastric disease risk. Sobota RS, et al. Hum Genet, 2016 Aug. PMID 27225266, Free PMC Article
  3. Novel and functional DNA sequence variants within the GATA5 gene promoter in ventricular septal defects. Shan JP, et al. World J Pediatr, 2014 Nov. PMID 25515806
  4. Bicuspid aortic valve syndrome: a heterogeneous and still unknown condition. Martín M, et al. Int J Cardiol, 2014 Dec 20. PMID 25449525
  5. Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve. Bonachea EM, et al. Pediatr Res, 2014 Aug. PMID 24796370, Free PMC Article

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.
    Title: Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.
  2. GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells.
    Title: GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells.
  3. Molecular genetic study on GATA5 gene promoter in acute myocardial infarction.
    Title: Molecular genetic study on GATA5 gene promoter in acute myocardial infarction.
  4. GATA5 inhibits hepatocellular carcinoma cells malignant behavior by blocking expression of beta-catenin and reprogramming genes.
    Title: GATA5 inhibits hepatocellular carcinoma cells malignant behaviours by blocking expression of reprogramming genes.
  5. H. pylori upregulates GATA-5 mRNA levels after 6, 24, and 48 h of infection in gastric epithelial cells compared to uninfected cells, in parallel with a progressive increase in TFF1 mRNA levels.
    Title: Effect of Helicobacter pylori Infection on GATA-5 and TFF1 Regulation, Comparison Between Pediatric and Adult Patients.
  6. The findings support the fact that rare functional variants especially in GATA5 could be associated with BAV, adding novel genetic factors to the list of variants associated with the phenotypic expression of this genetically complex pathology.
    Title: Variants in cardiac GATA genes associated with bicuspid aortic valve.
  7. findings show that GATA5 mutations, in addition to heart diseases, can result in congenital abnormalities of the female genitourinary tract in humans
    Title: Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
  8. A multivariate regression model revealed that the effects of both the promoter methylation and the exonic SNPs in GATA5 were independent.This interaction between GATA5 variants and GATA5 promoter methylation indicates that the association of either factor with gastric disease progression is modified by the other
    Title: Epigenetic and genetic variation in GATA5 is associated with gastric disease risk.
  9. These results suggest that the induction of GATA-6 dysfunction may be more effective for chemotherapy for colorectal cancer, although the mechanism underlying the synergistic effect of 5-FU and anisomycin remains unknown.
    Title: Anisomycin-induced GATA-6 degradation accompanying a decrease of proliferation of colorectal cancer cell.
  10. The Correlation between GATA5, WT1 and PAX5 methylation and clinical/histological parameters is suggestive of applicability of these markers in non-invasive (epi)genetic testing in hepatocellular carcinoma (HCC).
    Title: Aberrant methylation of tumour suppressor genes WT1, GATA5 and PAX5 in hepatocellular carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (41)

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

Associated conditions

Description Tests
Congenital heart defects, multiple types, 5
MedGen: C4693563 OMIM: 617912 GeneReviews: Not available
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EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cardiac muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in cell fate commitment IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in cellular response to BMP stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to nitric oxide IEA
Inferred from Electronic Annotation
more info
  
involved_in endocardial cushion fusion ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within intestinal epithelial cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of Notch signaling pathway involved in heart induction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of apoptotic DNA fragmentation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cardiac endothelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
part_of chromatin ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transcription factor GATA-5
Names
GATA binding factor-5

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_046963.1 RefSeqGene

    Range
    4976..17474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080473.5 → NP_536721.1  transcription factor GATA-5

    See identical proteins and their annotated locations for NP_536721.1

    Status: REVIEWED

    Source sequence(s)
    AL499627
    Consensus CDS
    CCDS13499.1
    UniProtKB/Swiss-Prot
    Q86VU4, Q9BWX5
    Related
    ENSP00000252997.2, ENST00000252997.3
    Conserved Domains (3) summary
    smart00401
    Location:184 → 229
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:188 → 232
    ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    pfam05349
    Location:1 → 170
    GATA-N; GATA-type transcription activator, N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    62463497..62475995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723699.3 → XP_006723762.1  transcription factor GATA-5 isoform X1

    See identical proteins and their annotated locations for XP_006723762.1

    UniProtKB/Swiss-Prot
    Q86VU4, Q9BWX5
    Conserved Domains (3) summary
    smart00401
    Location:184 → 229
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:188 → 232
    ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    pfam05349
    Location:1 → 170
    GATA-N; GATA-type transcription activator, N-terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    64260442..64272970 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322987.1 → XP_054178962.1  transcription factor GATA-5 isoform X1

    UniProtKB/Swiss-Prot
    Q86VU4

  2. XM_054322988.1 → XP_054178963.1  transcription factor GATA-5 isoform X1

    UniProtKB/Swiss-Prot
    Q86VU4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BWX5.1 GenPept UniProtKB/Swiss-Prot:Q9BWX5

Gene LinkOut

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