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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

GO - Biological processi

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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

Congenital heart defects, multiple types, 5 (CHTD5)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617912
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07331016Y → D in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080605132R → G in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073312138Y → F in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073313142Y → H in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111554140EnsemblClinVar.1
Natural variantiVAR_067699184G → V in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073070187R → G in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080606190V → A in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782051102EnsemblClinVar.1
Natural variantiVAR_073071199L → V in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073072200W → G in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073315203D → E in CHTD5; unknown pathological significance; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073073207H → R in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080607208 – 397Missing in CHTD5; loss of transcriptional activity. 1 PublicationAdd BLAST190
Natural variantiVAR_073316210C → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs997414695Ensembl.1
Natural variantiVAR_067700218K → T in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_080608223N → H in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073317240G → D in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073318252T → P in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_067701266A → P in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_080609274H → R in CHTD5; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi140628
MalaCardsiGATA5
MIMi617912 phenotype
OpenTargetsiENSG00000130700
Orphaneti334 Familial atrial fibrillation
402075 Familial bicuspid aortic valve
1480 NON RARE IN EUROPE: 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 Expressed in 80 organ(s), highest expression level in urinary bladder
CleanExiHS_GATA5
GenevisibleiQ9BWX5 HS

Organism-specific databases

HPAiHPA067583

Interactioni

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
OMAiWTAGPFD
OrthoDBiEOG091G0AUR
PhylomeDBiQ9BWX5
TreeFamiTF315391

Family and domain databases

CDDicd00202 ZnF_GATA, 2 hits
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 → R1 PublicationCorresponds to variant dbSNP:rs113068438EnsemblClinVar.1
Natural variantiVAR_07331016Y → D in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_07331119S → W1 PublicationCorresponds to variant dbSNP:rs200383755Ensembl.1
Natural variantiVAR_08060467T → P1 PublicationCorresponds to variant dbSNP:rs6142775Ensembl.1
Natural variantiVAR_080605132R → G in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073312138Y → F in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073313142Y → H in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111554140EnsemblClinVar.1
Natural variantiVAR_073314166G → S1 PublicationCorresponds to variant dbSNP:rs141950357Ensembl.1
Natural variantiVAR_067699184G → V in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073070187R → G in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080606190V → A in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782051102EnsemblClinVar.1
Natural variantiVAR_073071199L → V in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073072200W → G in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073315203D → E in CHTD5; unknown pathological significance; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073073207H → R in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080607208 – 397Missing in CHTD5; loss of transcriptional activity. 1 PublicationAdd BLAST190
Natural variantiVAR_073316210C → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs997414695Ensembl.1
Natural variantiVAR_067700218K → T in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_080608223N → H in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073317240G → D in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073318252T → P in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_067701266A → P in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_080609274H → R in CHTD5; unknown pathological significance. 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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ9BWX5
SMRiQ9BWX5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126640, 1 interactor
IntActiQ9BWX5, 6 interactors
STRINGi9606.ENSP00000252997

PTM databases

iPTMnetiQ9BWX5
PhosphoSitePlusiQ9BWX5

Polymorphism and mutation databases

BioMutaiGATA5
DMDMi20138325

Proteomic databases

MaxQBiQ9BWX5
PaxDbiQ9BWX5
PeptideAtlasiQ9BWX5
PRIDEiQ9BWX5
ProteomicsDBi79338

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi140628
DisGeNETi140628
EuPathDBiHostDB:ENSG00000130700.6
GeneCardsiGATA5
HGNCiHGNC:15802 GATA5
HPAiHPA067583
MalaCardsiGATA5
MIMi611496 gene
617912 phenotype
neXtProtiNX_Q9BWX5
OpenTargetsiENSG00000130700
Orphaneti334 Familial atrial fibrillation
402075 Familial bicuspid aortic valve
1480 NON RARE IN EUROPE: 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

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

Miscellaneous databases

GeneWikiiGATA5
GenomeRNAii140628
PROiPR:Q9BWX5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130700 Expressed in 80 organ(s), highest expression level in urinary bladder
CleanExiHS_GATA5
GenevisibleiQ9BWX5 HS

Family and domain databases

CDDicd00202 ZnF_GATA, 2 hits
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
ProtoNetiSearch...

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: November 7, 2018
This is version 150 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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