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

Gene ID: 140628, updated on 13-Mar-2020

Summary

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
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

Genomic context

See GATA5 in Genome Data Viewer
Location:
20q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (62463497..62475995, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61038553..61051026, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RBBP8 N-terminal like Neighboring gene uncharacterized LOC105372710 Neighboring gene uncharacterized LOC105372711 Neighboring gene uncharacterized LOC105376995

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
MedGen: C4693563 OMIM: 617912 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cardiac muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell fate commitment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to BMP stimulus IEA
Inferred from Electronic Annotation
more info
 
endocardial cushion fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
intestinal epithelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Notch signaling pathway involved in heart induction ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac endothelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter involved in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nuclear chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_046963.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_080473.5NP_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
    Q9BWX5
    Related
    ENSP00000252997.2, ENST00000252997.3
    Conserved Domains (3) summary
    smart00401
    Location:184229
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:188232
    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:1170
    GATA-N; GATA-type transcription activator, N-terminal

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_000020.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_006723762.1

    UniProtKB/Swiss-Prot
    Q9BWX5
    Conserved Domains (3) summary
    smart00401
    Location:184229
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:188232
    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:1170
    GATA-N; GATA-type transcription activator, N-terminal
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