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Protein

Transcription factor GATA-5

Gene

GATA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri189 – 213GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri243 – 267GATA-type 2PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130700-MONOMER.
ReactomeiR-HSA-983231. Factors involved in megakaryocyte development and platelet production.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor GATA-5
Alternative name(s):
GATA-binding factor 5
Gene namesi
Name:GATA5Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15802. GATA5.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: Reactome
  • nucleus Source: MGI
  • transcription factor complex Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Rare variants in GATA5 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

Rare variants in GATA5 may be a cause of susceptibility to Tetraology of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.

Rare variants in GATA5 may be a cause of susceptibility to ventriculoseptal defect (VSD). VSD is a congenital heart disease which may lead to cardiac enlargement, ventricular dysfunction or heart failure, poor quality of life, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death in the absence of surgical treatment or transcatheter repair.

Rare variants in GATA5 may be a cause of susceptibility to aortic valve disease (AOVD). AOVD is a common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.

Rare variants in GATA5 may be a cause of susceptibility to dilated cardiomyopathy (CMD). CMD is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi140628.
MalaCardsiGATA5.
OpenTargetsiENSG00000130700.
Orphaneti334. Familial atrial fibrillation.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBiPA28588.

Polymorphism and mutation databases

BioMutaiGATA5.
DMDMi20138325.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000834181 – 397Transcription factor GATA-5Add BLAST397

Proteomic databases

MaxQBiQ9BWX5.
PaxDbiQ9BWX5.
PeptideAtlasiQ9BWX5.
PRIDEiQ9BWX5.

PTM databases

iPTMnetiQ9BWX5.
PhosphoSitePlusiQ9BWX5.

Expressioni

Gene expression databases

BgeeiENSG00000130700.
CleanExiHS_GATA5.
GenevisibleiQ9BWX5. HS.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126640. 1 interactor.
IntActiQ9BWX5. 1 interactor.
STRINGi9606.ENSP00000252997.

Structurei

3D structure databases

ProteinModelPortaliQ9BWX5.
SMRiQ9BWX5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 2 GATA-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri189 – 213GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri243 – 267GATA-type 2PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1601. Eukaryota.
COG5641. LUCA.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiQ9BWX5.
KOiK17896.
OMAiWTAGPFD.
OrthoDBiEOG091G0AUR.
PhylomeDBiQ9BWX5.
TreeFamiTF315391.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR008013. GATA_N.
IPR028372. TF_GATA-5.
IPR016375. TF_GATA_4/5/6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF193. PTHR10071:SF193. 1 hit.
PfamiPF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view]
PIRSFiPIRSF003028. TF_GATA_4/5/6. 1 hit.
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEiPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BWX5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MYQSLALAAS PRQAAYADSG SFLHAPGAGS PMFVPPARVP SMLSYLSGCE
60 70 80 90 100
PSPQPPELAA RPGWAQTATA DSSAFGPGSP HPPAAHPPGA TAFPFAHSPS
110 120 130 140 150
GPGSGGSAGG RDGSAYQGAL LPREQFAAPL GRPVGTSYSA TYPAYVSPDV
160 170 180 190 200
AQSWTAGPFD GSVLHGLPGR RPTFVSDFLE EFPGEGRECV NCGALSTPLW
210 220 230 240 250
RRDGTGHYLC NACGLYHKMN GVNRPLVRPQ KRLSSSRRAG LCCTNCHTTN
260 270 280 290 300
TTLWRRNSEG EPVCNACGLY MKLHGVPRPL AMKKESIQTR KRKPKTIAKA
310 320 330 340 350
RGSSGSTRNA SASPSAVAST DSSAATSKAK PSLASPVCPG PSMAPQASGQ
360 370 380 390
EDDSLAPGHL EFKFEPEDFA FPSTAPSPQA GLRGALRQEA WCALALA
Length:397
Mass (Da):41,299
Last modified:June 1, 2001 - v1
Checksum:i5DFBA02085695C57
GO

Sequence cautioni

The sequence AAH47790 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti92A → T in AAH47790 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0733093Q → R Probable disease-associated mutation found in patients with AOVD. 1 PublicationCorresponds to variant rs113068438dbSNPEnsembl.1
Natural variantiVAR_07331016Y → D Probable disease-associated mutation found in patients with AOVD; decreases transactivation activity. 1 Publication1
Natural variantiVAR_07331119S → W Probable disease-associated mutation found in patients with AOVD. 1 PublicationCorresponds to variant rs200383755dbSNPEnsembl.1
Natural variantiVAR_073312138Y → F Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication1
Natural variantiVAR_073313142Y → H Probable disease-associated mutation found in patients with AOVD. 1 PublicationCorresponds to variant rs111554140dbSNPEnsembl.1
Natural variantiVAR_073314166G → S Probable disease-associated mutation found in patients with AOVD. 1 PublicationCorresponds to variant rs141950357dbSNPEnsembl.1
Natural variantiVAR_067699184G → V Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication1
Natural variantiVAR_073070187R → G Probable disease-associated mutation found in patients with TOF; decreases transactivation activity. 1 Publication1
Natural variantiVAR_073071199L → V Probable disease-associated mutation found in patients with ventriculoseptal defect; decreases transactivation activity. 1 Publication1
Natural variantiVAR_073072200W → G Probable disease-associated mutation found in patients with atrial fibrillation; decreases transactivation activity. 1 Publication1
Natural variantiVAR_073315203D → E Probable disease-associated mutation found in patients with TOF; decreases transactivation activity. 1 Publication1
Natural variantiVAR_073073207H → R Probable disease-associated mutation found in patients with TOF; decreases transactivation activity. 1 Publication1
Natural variantiVAR_073316210C → G Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication1
Natural variantiVAR_067700218K → T Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication1
Natural variantiVAR_073317240G → D Probable disease-associated mutation found in patients with CMD; decreases transactivation activity. 1 Publication1
Natural variantiVAR_073318252T → P Probable disease-associated mutation found in patients with AOVD; decreases transactivation activity. 1 Publication1
Natural variantiVAR_067701266A → P Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
HM015595 Genomic DNA. Translation: ADL14516.1.
AL499627 Genomic DNA. Translation: CAC36001.1.
CH471077 Genomic DNA. Translation: EAW75360.1.
CH471077 Genomic DNA. Translation: EAW75361.1.
BC047790 mRNA. Translation: AAH47790.1. Different initiation.
BC117356 mRNA. Translation: AAI17357.1.
BC117358 mRNA. Translation: AAI17359.1.
CCDSiCCDS13499.1.
RefSeqiNP_536721.1. NM_080473.4.
XP_006723762.1. XM_006723699.3.
UniGeneiHs.352250.

Genome annotation databases

EnsembliENST00000252997; ENSP00000252997; ENSG00000130700.
GeneIDi140628.
KEGGihsa:140628.
UCSCiuc002ycx.1. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
HM015595 Genomic DNA. Translation: ADL14516.1.
AL499627 Genomic DNA. Translation: CAC36001.1.
CH471077 Genomic DNA. Translation: EAW75360.1.
CH471077 Genomic DNA. Translation: EAW75361.1.
BC047790 mRNA. Translation: AAH47790.1. Different initiation.
BC117356 mRNA. Translation: AAI17357.1.
BC117358 mRNA. Translation: AAI17359.1.
CCDSiCCDS13499.1.
RefSeqiNP_536721.1. NM_080473.4.
XP_006723762.1. XM_006723699.3.
UniGeneiHs.352250.

3D structure databases

ProteinModelPortaliQ9BWX5.
SMRiQ9BWX5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126640. 1 interactor.
IntActiQ9BWX5. 1 interactor.
STRINGi9606.ENSP00000252997.

PTM databases

iPTMnetiQ9BWX5.
PhosphoSitePlusiQ9BWX5.

Polymorphism and mutation databases

BioMutaiGATA5.
DMDMi20138325.

Proteomic databases

MaxQBiQ9BWX5.
PaxDbiQ9BWX5.
PeptideAtlasiQ9BWX5.
PRIDEiQ9BWX5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252997; ENSP00000252997; ENSG00000130700.
GeneIDi140628.
KEGGihsa:140628.
UCSCiuc002ycx.1. human.

Organism-specific databases

CTDi140628.
DisGeNETi140628.
GeneCardsiGATA5.
HGNCiHGNC:15802. GATA5.
MalaCardsiGATA5.
MIMi611496. gene.
neXtProtiNX_Q9BWX5.
OpenTargetsiENSG00000130700.
Orphaneti334. Familial atrial fibrillation.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBiPA28588.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1601. Eukaryota.
COG5641. LUCA.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiQ9BWX5.
KOiK17896.
OMAiWTAGPFD.
OrthoDBiEOG091G0AUR.
PhylomeDBiQ9BWX5.
TreeFamiTF315391.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130700-MONOMER.
ReactomeiR-HSA-983231. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

GeneWikiiGATA5.
GenomeRNAii140628.
PROiQ9BWX5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130700.
CleanExiHS_GATA5.
GenevisibleiQ9BWX5. HS.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR008013. GATA_N.
IPR028372. TF_GATA-5.
IPR016375. TF_GATA_4/5/6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF193. PTHR10071:SF193. 1 hit.
PfamiPF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view]
PIRSFiPIRSF003028. TF_GATA_4/5/6. 1 hit.
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEiPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGATA5_HUMAN
AccessioniPrimary (citable) accession number: Q9BWX5
Secondary accession number(s): D9ZGF7, Q17RE2, Q86VU4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.