Entity Details

Primary name GATA5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BWX5
EntryNameGATA5_HUMAN
FullNameTranscription factor GATA-5
TaxID9606
Evidenceevidence at protein level
Length397
SequenceStatuscomplete
DateCreated2002-01-31
DateModified2021-06-02

Ontological Relatives

GenesGATA5

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0003180 aortic valve morphogenesis
GO:0003274 endocardial cushion fusion
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007596 blood coagulation
GO:0008270 zinc ion binding
GO:0010614 negative regulation of cardiac muscle hypertrophy
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0035481 positive regulation of Notch signaling pathway involved in heart induction
GO:0045165 cell fate commitment
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048738 cardiac muscle tissue development
GO:0060575 intestinal epithelial cell differentiation
GO:0062000 positive regulation of cardiac endothelial to mesenchymal transition
GO:0071773 cellular response to BMP stimulus
GO:1901228 positive regulation of transcription from RNA polymerase II promoter involved in heart development
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000679 Zinc finger, GATA-typeDomainDomain
IPR008013 GATA-type transcription activator, N-terminalDomainDomain
IPR013088 Zinc finger, NHR/GATA-typeFamilyHomologous superfamily
IPR016375 Transcription factor GATA-4/5/6FamilyFamily
IPR039355 Transcription factor GATAFamilyFamily

Diseases

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Disease IDSourceNameDescription
617912 OMIMCongenital heart defects, multiple types, 5 (CHTD5)A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive. The disease is caused by variants affecting the gene represented in this entry.