GATA5

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

chromatin binding Source: GO_Central
DNA-binding transcription factor activity
Source: UniProtKB
Inferred from direct assayⁱ
- 14986113
enhancer sequence-specific DNA binding Source: Ensembl
RNA polymerase II regulatory region sequence-specific DNA binding Source: GO_Central
RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
RNA polymerase II transcription factor binding Source: GO_Central
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: Ensembl
transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: BHF-UCL
transcription regulatory region DNA binding
Source: MGI
Inferred from direct assayⁱ
- 9566909
zinc ion binding Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

aortic valve morphogenesis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22641149
- 24638895
blood coagulation Source: Reactome
cellular response to BMP stimulus Source: Ensembl
endocardial cushion fusion Source: BHF-UCL
intestinal epithelial cell differentiation
Source: MGI
Inferred from direct assayⁱ
- 9566909
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
Inferred from direct assayⁱ
- 14986113
positive regulation of transcription from RNA polymerase II promoter involved in heart development Source: BHF-UCL

View the complete GO annotation on QuickGO ...

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-5 Alternative name(s): GATA-binding factor 5
Gene namesⁱ	Name:GATA5Imported
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 20

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000130700.6
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:15802 GATA5
MIMⁱ	611496 gene
neXtProtⁱ	NX_Q9BWX5

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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_073310	16	Y → D in CHTD5; decreased transcriptional activity. 1 Publication	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 Publication	1
Natural variantⁱVAR_073072	200	W → G in CHTD5; decreased transcriptional activity. 1 Publication	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 mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	140628
MalaCards human disease database More...MalaCardsⁱ	GATA5
MIMⁱ	617912 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000130700
Orphanetⁱ	334 Familial atrial fibrillation 99097 Single ventricular septal defect 3303 Tetralogy of Fallot
PharmGKBⁱ	PA28588

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

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BWX5
PaxDbⁱ	Q9BWX5
PeptideAtlas More...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
CleanExⁱ	HS_GATA5
Genevisibleⁱ	Q9BWX5 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA067583

HPAⁱ

HPA067583

Interactionⁱ

GO - Molecular functionⁱ

RNA polymerase II transcription factor binding Source: GO_Central

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	126640, 1 interactor
IntActⁱ	Q9BWX5, 6 interactors
STRINGⁱ	9606.ENSP00000252997

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9BWX5
SMRⁱ	Q9BWX5
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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-finger

Phylogenomic databases

eggNOGⁱ	KOG1601 Eukaryota COG5641 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119221
HOGENOMⁱ	HOG000047700
HOVERGENⁱ	HBG051703
InParanoidⁱ	Q9BWX5
KEGG Orthology (KO) More...KOⁱ	K17896
OMAⁱ	AFPFAHS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0AUR
PhylomeDBⁱ	Q9BWX5
TreeFamⁱ	TF315391

Family and domain databases

Conserved Domains Database More...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
Pfam protein domain database More...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

Sequenceⁱ

Sequence statusⁱ: Complete.

Q9BWX5-1 [UniParc]FASTA Add 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 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	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 Publication	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 Publication	1
Natural variantⁱVAR_073072	200	W → G in CHTD5; decreased transcriptional activity. 1 Publication	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS13499.1
NCBI Reference Sequences More...RefSeqⁱ	NP_536721.1, NM_080473.4 XP_006723762.1, XM_006723699.3
UniGeneⁱ	Hs.352250

Genome annotation databases

Ensemblⁱ	ENST00000252997; ENSP00000252997; ENSG00000130700
GeneIDⁱ	140628
KEGGⁱ	hsa:140628
UCSC genome browser More...UCSCⁱ	uc002ycx.1 human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9BWX5	GATA binding protein 5		PANTR		397	UniRef90_Q9BWX5
GATA binding protein 5		PONAB		397
Transcription factor GATA-5		MACMU		397
GATA binding protein 5		CERAT		397
GATA binding protein 5		MACNE		397
+16

Protein	Similar proteins		Species	Score	Length	Source
Q9BWX5	Transcription factor GATA-5		MOUSE		404	UniRef50_Q9BWX5
Transcription factor GATA-4		XENLA		392
GATA binding protein 5		CERAT		397
GATA binding protein 5		MACNE		397
GATA binding protein 5		PONAB		397
+66

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:	September 12, 2018
	This is version 149 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 proteome

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9BWX5 (GATA5_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Transcription factor GATA-5

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Zinc finger

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ