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UniProtKB - Q9BWX5 (GATA5_HUMAN)

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Protein

Transcription factor GATA-5

Gene

GATA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiQ9BWX5

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000130700.6
HGNCiHGNC:15802 GATA5
MIMi611496 gene
neXtProtiNX_Q9BWX5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.3 Publications
Tetralogy of Fallot (TOF)2 Publications
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:187500
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.1 Publication
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.1 Publication
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.2 Publications

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi140628
MalaCardsiGATA5
MIMi187500 phenotype
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
ProteomicsDBi79338

PTM databases

iPTMnetiQ9BWX5
PhosphoSitePlusiQ9BWX5

Expressioni

Gene expression databases

BgeeiENSG00000130700
CleanExiHS_GATA5
GenevisibleiQ9BWX5 HS

Organism-specific databases

HPAiHPA067583

Interactioni

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi126640, 1 interactor
IntActiQ9BWX5, 6 interactors
STRINGi9606.ENSP00000252997

Structurei

3D structure databases

ProteinModelPortaliQ9BWX5
SMRiQ9BWX5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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
OMAiAFPFAHS
OrthoDBiEOG091G0AUR
PhylomeDBiQ9BWX5
TreeFamiTF315391

Family and domain databases

Gene3Di3.30.50.10, 2 hits
InterProiView protein in InterPro
IPR008013 GATA_N
IPR016375 TF_GATA_4/5/6
IPR039355 Transcription_factor_GATA
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA
PANTHERiPTHR10071 PTHR10071, 1 hit
PfamiView protein in Pfam
PF00320 GATA, 2 hits
PF05349 GATA-N, 1 hit
PIRSFiPIRSF003028 TF_GATA_4/5/6, 1 hit
PRINTSiPR00619 GATAZNFINGER
SMARTiView protein in SMART
SM00401 ZnF_GATA, 2 hits
PROSITEiView protein in PROSITE
PS00344 GATA_ZN_FINGER_1, 2 hits
PS50114 GATA_ZN_FINGER_2, 2 hits

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 Polymorphism; may be a risk factor for aortic valve disease. 1 PublicationCorresponds to variant dbSNP:rs113068438EnsemblClinVar.1
Natural variantiVAR_07331016Y → D Probable disease-associated mutation found in patients with aortic valve disease; decreases transactivation activity. 1 Publication1
Natural variantiVAR_07331119S → W Polymorphism; may be a risk factor for aortic valve disease. 1 PublicationCorresponds to variant dbSNP:rs200383755Ensembl.1
Natural variantiVAR_073312138Y → F Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication1
Natural variantiVAR_073313142Y → H Rare polymorphism; may be a risk factor for aortic valve disease. 1 PublicationCorresponds to variant dbSNP:rs111554140EnsemblClinVar.1
Natural variantiVAR_073314166G → S Polymorphism; may be a risk factor for aortic valve disease. 1 PublicationCorresponds to variant dbSNP:rs141950357Ensembl.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 PublicationCorresponds to variant dbSNP:rs997414695Ensembl.1
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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiGATA5_HUMAN
AccessioniPrimary (citable) accession number: Q9BWX5
Secondary accession number(s): D9ZGF7, Q17RE2, Q86VU4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 148 of the entry and version 1 of the sequence. See 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

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