UniProtKB - Q9BWX5 (GATA5_HUMAN)
Protein
Transcription factor GATA-5
Gene
GATA5
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 189 – 213 | GATA-type 1PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 243 – 267 | GATA-type 2PROSITE-ProRule annotationAdd BLAST | 25 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: BHF-UCL
- enhancer sequence-specific DNA binding Source: Ensembl
- RNA polymerase II proximal promoter sequence-specific DNA binding Source: GO_Central
- transcription regulatory region DNA binding Source: MGI
- zinc ion binding Source: InterPro
GO - Biological processi
- aortic valve morphogenesis Source: BHF-UCL
- blood coagulation Source: Reactome
- cardiac muscle tissue development Source: GO_Central
- cellular response to BMP stimulus Source: Ensembl
- endocardial cushion fusion Source: BHF-UCL
- intestinal epithelial cell differentiation Source: MGI
- negative regulation of cardiac muscle hypertrophy Source: Ensembl
- negative regulation of gene expression Source: BHF-UCL
- positive regulation of cardiac endothelial to mesenchymal transition Source: BHF-UCL
- positive regulation of gene expression Source: BHF-UCL
- positive regulation of Notch signaling pathway involved in heart induction Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of transcription from RNA polymerase II promoter involved in heart development Source: BHF-UCL
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
Reactomei | R-HSA-983231 Factors involved in megakaryocyte development and platelet production |
SIGNORi | Q9BWX5 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor GATA-5Alternative name(s): GATA-binding factor 5 |
Gene namesi | Name:GATA5Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15802 GATA5 |
MIMi | 611496 gene |
neXtProti | NX_Q9BWX5 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Nucleus
- nuclear chromatin Source: BHF-UCL
- nucleoplasm Source: Reactome
- nucleus Source: MGI
Keywords - Cellular componenti
NucleusPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073310 | 16 | Y → D in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555897088EnsemblClinVar. | 1 | |
Natural variantiVAR_080605 | 132 | R → G in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073312 | 138 | Y → F in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_073313 | 142 | Y → H in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111554140EnsemblClinVar. | 1 | |
Natural variantiVAR_067699 | 184 | G → V in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073070 | 187 | R → G in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_080606 | 190 | V → A in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782051102EnsemblClinVar. | 1 | |
Natural variantiVAR_073071 | 199 | L → V in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555896779EnsemblClinVar. | 1 | |
Natural variantiVAR_073072 | 200 | W → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555896778EnsemblClinVar. | 1 | |
Natural variantiVAR_073315 | 203 | D → E in CHTD5; unknown pathological significance; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_073073 | 207 | H → R in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_080607 | 208 – 397 | Missing in CHTD5; loss of transcriptional activity. 1 PublicationAdd BLAST | 190 | |
Natural variantiVAR_073316 | 210 | C → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs997414695Ensembl. | 1 | |
Natural variantiVAR_067700 | 218 | K → T in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080608 | 223 | N → H in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073317 | 240 | G → D in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_073318 | 252 | T → P in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_067701 | 266 | A → P in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080609 | 274 | H → R in CHTD5; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 140628 |
MalaCardsi | GATA5 |
MIMi | 617912 phenotype |
OpenTargetsi | ENSG00000130700 |
Orphaneti | 334 Familial atrial fibrillation 402075 Familial bicuspid aortic valve 1480 NON RARE IN EUROPE: Ventricular septal defect 3303 Tetralogy of Fallot |
PharmGKBi | PA28588 |
Miscellaneous databases
Pharosi | Q9BWX5 |
Polymorphism and mutation databases
BioMutai | GATA5 |
DMDMi | 20138325 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000083418 | 1 – 397 | Transcription factor GATA-5Add BLAST | 397 |
Proteomic databases
jPOSTi | Q9BWX5 |
MassIVEi | Q9BWX5 |
MaxQBi | Q9BWX5 |
PaxDbi | Q9BWX5 |
PeptideAtlasi | Q9BWX5 |
PRIDEi | Q9BWX5 |
ProteomicsDBi | 79338 |
PTM databases
iPTMneti | Q9BWX5 |
PhosphoSitePlusi | Q9BWX5 |
Expressioni
Gene expression databases
Bgeei | ENSG00000130700 Expressed in 80 organ(s), highest expression level in urinary bladder |
Genevisiblei | Q9BWX5 HS |
Organism-specific databases
HPAi | HPA067583 |
Interactioni
Protein-protein interaction databases
BioGridi | 126640, 1 interactor |
IntActi | Q9BWX5, 6 interactors |
STRINGi | 9606.ENSP00000252997 |
Family & Domainsi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 189 – 213 | GATA-type 1PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 243 – 267 | GATA-type 2PROSITE-ProRule annotationAdd BLAST | 25 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1601 Eukaryota COG5641 LUCA |
GeneTreei | ENSGT00940000160139 |
HOGENOMi | HOG000047700 |
InParanoidi | Q9BWX5 |
KOi | K17896 |
OMAi | PSWTAGH |
OrthoDBi | 288077at2759 |
PhylomeDBi | Q9BWX5 |
TreeFami | TF315391 |
Family and domain databases
CDDi | cd00202 ZnF_GATA, 2 hits |
Gene3Di | 3.30.50.10, 2 hits |
InterProi | View protein in InterPro IPR008013 GATA_N IPR016375 TF_GATA_4/5/6 IPR039355 Transcription_factor_GATA IPR000679 Znf_GATA IPR013088 Znf_NHR/GATA |
PANTHERi | PTHR10071 PTHR10071, 1 hit |
Pfami | View protein in Pfam PF00320 GATA, 2 hits PF05349 GATA-N, 1 hit |
PIRSFi | PIRSF003028 TF_GATA_4/5/6, 1 hit |
PRINTSi | PR00619 GATAZNFINGER |
SMARTi | View protein in SMART SM00401 ZnF_GATA, 2 hits |
PROSITEi | View protein in PROSITE PS00344 GATA_ZN_FINGER_1, 2 hits PS50114 GATA_ZN_FINGER_2, 2 hits |
i Sequence
Sequence statusi: Complete.
Q9BWX5-1 [UniParc]FASTAAdd to basket
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
Sequence cautioni
The sequence AAH47790 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 92 | A → T in AAH47790 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073309 | 3 | Q → R1 PublicationCorresponds to variant dbSNP:rs113068438EnsemblClinVar. | 1 | |
Natural variantiVAR_073310 | 16 | Y → D in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555897088EnsemblClinVar. | 1 | |
Natural variantiVAR_073311 | 19 | S → W1 PublicationCorresponds to variant dbSNP:rs200383755Ensembl. | 1 | |
Natural variantiVAR_080604 | 67 | T → P1 PublicationCorresponds to variant dbSNP:rs6142775Ensembl. | 1 | |
Natural variantiVAR_080605 | 132 | R → G in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073312 | 138 | Y → F in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_073313 | 142 | Y → H in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111554140EnsemblClinVar. | 1 | |
Natural variantiVAR_073314 | 166 | G → S1 PublicationCorresponds to variant dbSNP:rs141950357Ensembl. | 1 | |
Natural variantiVAR_067699 | 184 | G → V in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073070 | 187 | R → G in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_080606 | 190 | V → A in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782051102EnsemblClinVar. | 1 | |
Natural variantiVAR_073071 | 199 | L → V in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555896779EnsemblClinVar. | 1 | |
Natural variantiVAR_073072 | 200 | W → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555896778EnsemblClinVar. | 1 | |
Natural variantiVAR_073315 | 203 | D → E in CHTD5; unknown pathological significance; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_073073 | 207 | H → R in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_080607 | 208 – 397 | Missing in CHTD5; loss of transcriptional activity. 1 PublicationAdd BLAST | 190 | |
Natural variantiVAR_073316 | 210 | C → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs997414695Ensembl. | 1 | |
Natural variantiVAR_067700 | 218 | K → T in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080608 | 223 | N → H in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073317 | 240 | G → D in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_073318 | 252 | T → P in CHTD5; decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_067701 | 266 | A → P in CHTD5; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080609 | 274 | H → R in CHTD5; unknown pathological significance. 1 Publication | 1 |
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 |
CCDSi | CCDS13499.1 |
RefSeqi | NP_536721.1, NM_080473.4 XP_006723762.1, XM_006723699.3 |
Genome annotation databases
Ensembli | ENST00000252997; ENSP00000252997; ENSG00000130700 |
GeneIDi | 140628 |
KEGGi | hsa:140628 |
UCSCi | uc002ycx.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 |
CCDSi | CCDS13499.1 |
RefSeqi | NP_536721.1, NM_080473.4 XP_006723762.1, XM_006723699.3 |
3D structure databases
SMRi | Q9BWX5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 126640, 1 interactor |
IntActi | Q9BWX5, 6 interactors |
STRINGi | 9606.ENSP00000252997 |
PTM databases
iPTMneti | Q9BWX5 |
PhosphoSitePlusi | Q9BWX5 |
Polymorphism and mutation databases
BioMutai | GATA5 |
DMDMi | 20138325 |
Proteomic databases
jPOSTi | Q9BWX5 |
MassIVEi | Q9BWX5 |
MaxQBi | Q9BWX5 |
PaxDbi | Q9BWX5 |
PeptideAtlasi | Q9BWX5 |
PRIDEi | Q9BWX5 |
ProteomicsDBi | 79338 |
Genome annotation databases
Ensembli | ENST00000252997; ENSP00000252997; ENSG00000130700 |
GeneIDi | 140628 |
KEGGi | hsa:140628 |
UCSCi | uc002ycx.1 human |
Organism-specific databases
CTDi | 140628 |
DisGeNETi | 140628 |
GeneCardsi | GATA5 |
HGNCi | HGNC:15802 GATA5 |
HPAi | HPA067583 |
MalaCardsi | GATA5 |
MIMi | 611496 gene 617912 phenotype |
neXtProti | NX_Q9BWX5 |
OpenTargetsi | ENSG00000130700 |
Orphaneti | 334 Familial atrial fibrillation 402075 Familial bicuspid aortic valve 1480 NON RARE IN EUROPE: Ventricular septal defect 3303 Tetralogy of Fallot |
PharmGKBi | PA28588 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1601 Eukaryota COG5641 LUCA |
GeneTreei | ENSGT00940000160139 |
HOGENOMi | HOG000047700 |
InParanoidi | Q9BWX5 |
KOi | K17896 |
OMAi | PSWTAGH |
OrthoDBi | 288077at2759 |
PhylomeDBi | Q9BWX5 |
TreeFami | TF315391 |
Enzyme and pathway databases
Reactomei | R-HSA-983231 Factors involved in megakaryocyte development and platelet production |
SIGNORi | Q9BWX5 |
Miscellaneous databases
GeneWikii | GATA5 |
GenomeRNAii | 140628 |
Pharosi | Q9BWX5 |
PROi | PR:Q9BWX5 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130700 Expressed in 80 organ(s), highest expression level in urinary bladder |
Genevisiblei | Q9BWX5 HS |
Family and domain databases
CDDi | cd00202 ZnF_GATA, 2 hits |
Gene3Di | 3.30.50.10, 2 hits |
InterProi | View protein in InterPro IPR008013 GATA_N IPR016375 TF_GATA_4/5/6 IPR039355 Transcription_factor_GATA IPR000679 Znf_GATA IPR013088 Znf_NHR/GATA |
PANTHERi | PTHR10071 PTHR10071, 1 hit |
Pfami | View protein in Pfam PF00320 GATA, 2 hits PF05349 GATA-N, 1 hit |
PIRSFi | PIRSF003028 TF_GATA_4/5/6, 1 hit |
PRINTSi | PR00619 GATAZNFINGER |
SMARTi | View protein in SMART SM00401 ZnF_GATA, 2 hits |
PROSITEi | View protein in PROSITE PS00344 GATA_ZN_FINGER_1, 2 hits PS50114 GATA_ZN_FINGER_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GATA5_HUMAN | |
Accessioni | Q9BWX5Primary (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: | October 16, 2019 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot