GATA5

Protein identityUniProt · HPA

UniProt accession

Q9BWX5

Gene

GATA5

Ensembl

ENSG00000130700

Chromosome

20

Canonical length

397 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

397 residues, UniProt reviewed canonical sequence.

>Q9BWX5|GATA5
     1  MYQSLALAAS PRQAAYADSG SFLHAPGAGS PMFVPPARVP SMLSYLSGCE PSPQPPELAA
    61  RPGWAQTATA DSSAFGPGSP HPPAAHPPGA TAFPFAHSPS GPGSGGSAGG RDGSAYQGAL
   121  LPREQFAAPL GRPVGTSYSA TYPAYVSPDV AQSWTAGPFD GSVLHGLPGR RPTFVSDFLE
   181  EFPGEGRECV NCGALSTPLW RRDGTGHYLC NACGLYHKMN GVNRPLVRPQ KRLSSSRRAG
   241  LCCTNCHTTN TTLWRRNSEG EPVCNACGLY MKLHGVPRPL AMKKESIQTR KRKPKTIAKA
   301  RGSSGSTRNA SASPSAVAST DSSAATSKAK PSLASPVCPG PSMAPQASGQ EDDSLAPGHL
   361  EFKFEPEDFA FPSTAPSPQA GLRGALRQEA WCALALA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GATA5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GATA5.

Disease | AllUniProt

Conditions GATA5 is implicated in, by any mechanism.

• Congenital heart defects, multiple types, 5 (CHTD5) MIM:617912

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 625 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital heart defects, multiple types, 5

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.63

gnomAD pLI

0.28

gnomAD missense Z

1.07

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aortic valve morphogenesis
• cardiac muscle tissue development
• cell fate commitment
• cellular response to BMP stimulus
• cellular response to hydrogen peroxide
• cellular response to nitric oxide
• endocardial cushion fusion
• heart induction
• intestinal epithelial cell differentiation
• negative regulation of cardiac muscle hypertrophy
• negative regulation of gene expression
• negative regulation of transcription by RNA polymerase II
• positive regulation of apoptotic DNA fragmentation
• positive regulation of gene expression
• positive regulation of Notch signaling pathway
• positive regulation of transcription by RNA polymerase II
• positive regulation of cardiac endothelial to mesenchymal transition

Molecular functions

• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding
• zinc ion binding

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Zinc finger, GATA-type
• GATA-type transcription activator, N-terminal
• Zinc finger, NHR/GATA-type
• Transcription factor GATA-4/5/6
• Transcription factor GATA
• GATA zinc finger
• GATA-type transcription activator, N-terminal

KeywordsUniProt

• Activator
• DNA-binding
• Metal-binding
• Nucleus
• Repeat
• Transcription
• Transcription regulation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of GATA5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ZFPM2