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Q9BWX5

- GATA5_HUMAN

UniProt

Q9BWX5 - GATA5_HUMAN

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Protein
Transcription factor GATA-5
Gene
GATA5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer. May play an important role in the transcriptional program(s) that underlies smooth muscle cell diversity By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri189 – 21325GATA-type 1
Add
BLAST
Zinc fingeri243 – 26725GATA-type 2
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  2. enhancer sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding Source: InterPro
  4. sequence-specific DNA binding transcription factor activity Source: InterPro
  5. transcription regulatory region DNA binding Source: InterPro
  6. zinc ion binding Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. blood coagulation Source: Reactome
  2. cellular response to BMP stimulus Source: Ensembl
  3. intestinal epithelial cell differentiation Source: MGI
  4. positive regulation of transcription from RNA polymerase II promoter Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_24970. 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:GATA5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:15802. GATA5.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
  2. nucleus Source: InterPro
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.

Keywords - Diseasei

Atrial fibrillation, Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 397397Transcription factor GATA-5
PRO_0000083418Add
BLAST

Proteomic databases

PaxDbiQ9BWX5.
PRIDEiQ9BWX5.

PTM databases

PhosphoSiteiQ9BWX5.

Expressioni

Gene expression databases

ArrayExpressiQ9BWX5.
BgeeiQ9BWX5.
CleanExiHS_GATA5.
GenevestigatoriQ9BWX5.

Interactioni

Protein-protein interaction databases

BioGridi126640. 1 interaction.
STRINGi9606.ENSP00000252997.

Structurei

3D structure databases

ProteinModelPortaliQ9BWX5.
SMRiQ9BWX5. Positions 185-293.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5641.
HOVERGENiHBG051703.
InParanoidiQ9BWX5.
KOiK17896.
OMAiGHFESSV.
OrthoDBiEOG7CCBRF.
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:SF148. PTHR10071:SF148. 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

MYQSLALAAS PRQAAYADSG SFLHAPGAGS PMFVPPARVP SMLSYLSGCE    50
PSPQPPELAA RPGWAQTATA DSSAFGPGSP HPPAAHPPGA TAFPFAHSPS 100
GPGSGGSAGG RDGSAYQGAL LPREQFAAPL GRPVGTSYSA TYPAYVSPDV 150
AQSWTAGPFD GSVLHGLPGR RPTFVSDFLE EFPGEGRECV NCGALSTPLW 200
RRDGTGHYLC NACGLYHKMN GVNRPLVRPQ KRLSSSRRAG LCCTNCHTTN 250
TTLWRRNSEG EPVCNACGLY MKLHGVPRPL AMKKESIQTR KRKPKTIAKA 300
RGSSGSTRNA SASPSAVAST DSSAATSKAK PSLASPVCPG PSMAPQASGQ 350
EDDSLAPGHL EFKFEPEDFA FPSTAPSPQA GLRGALRQEA WCALALA 397
Length:397
Mass (Da):41,299
Last modified:June 1, 2001 - v1
Checksum:i5DFBA02085695C57
GO

Sequence cautioni

The sequence AAH47790.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti184 – 1841G → V Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication
VAR_067699
Natural varianti218 – 2181K → T Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication
VAR_067700
Natural varianti266 – 2661A → P Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication
VAR_067701

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti92 – 921A → T in AAH47790. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006723699.1.
UniGeneiHs.352250.

Genome annotation databases

EnsembliENST00000252997; ENSP00000252997; ENSG00000130700.
ENST00000567532; ENSP00000456153; ENSG00000261345.
GeneIDi140628.
KEGGihsa:140628.
UCSCiuc002ycx.1. human.

Polymorphism databases

DMDMi20138325.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS13499.1.
RefSeqi NP_536721.1. NM_080473.4.
XP_006723762.1. XM_006723699.1.
UniGenei Hs.352250.

3D structure databases

ProteinModelPortali Q9BWX5.
SMRi Q9BWX5. Positions 185-293.
ModBasei Search...

Protein-protein interaction databases

BioGridi 126640. 1 interaction.
STRINGi 9606.ENSP00000252997.

PTM databases

PhosphoSitei Q9BWX5.

Polymorphism databases

DMDMi 20138325.

Proteomic databases

PaxDbi Q9BWX5.
PRIDEi Q9BWX5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252997 ; ENSP00000252997 ; ENSG00000130700 .
ENST00000567532 ; ENSP00000456153 ; ENSG00000261345 .
GeneIDi 140628.
KEGGi hsa:140628.
UCSCi uc002ycx.1. human.

Organism-specific databases

CTDi 140628.
GeneCardsi GC20M061038.
HGNCi HGNC:15802. GATA5.
MIMi 611496. gene.
neXtProti NX_Q9BWX5.
Orphaneti 334. Familial atrial fibrillation.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBi PA28588.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5641.
HOVERGENi HBG051703.
InParanoidi Q9BWX5.
KOi K17896.
OMAi GHFESSV.
OrthoDBi EOG7CCBRF.
PhylomeDBi Q9BWX5.
TreeFami TF315391.

Enzyme and pathway databases

Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

GeneWikii GATA5.
GenomeRNAii 140628.
NextBioi 84201.
PROi Q9BWX5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BWX5.
Bgeei Q9BWX5.
CleanExi HS_GATA5.
Genevestigatori Q9BWX5.

Family and domain databases

Gene3Di 3.30.50.10. 2 hits.
InterProi IPR008013. GATA_N.
IPR028372. TF_GATA-5.
IPR016375. TF_GATA_4/5/6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
PANTHERi PTHR10071:SF148. PTHR10071:SF148. 1 hit.
Pfami PF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view ]
PIRSFi PIRSF003028. TF_GATA_4/5/6. 1 hit.
PRINTSi PR00619. GATAZNFINGER.
SMARTi SM00401. ZnF_GATA. 2 hits.
[Graphical view ]
PROSITEi PS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  5. "Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation."
    Yang Y.Q., Wang J., Wang X.H., Wang Q., Tan H.W., Zhang M., Shen F.F., Jiang J.Q., Fang W.Y., Liu X.
    Int. J. Cardiol. 157:305-307(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VAL-184; THR-218 AND PRO-266.

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: September 3, 2014
This is version 114 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

External Data

Dasty 3

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