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Protein

Transcription factor GATA-5

Gene

GATA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri189 – 21325GATA-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri243 – 26725GATA-type 2PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

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:GATA5Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15802. GATA5.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: Reactome
  • nucleus Source: MGI
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.

Rare variants in GATA5 may be a cause of susceptibility to Tetraology of Fallot (TOF) [MIM:187500]. TOF is a 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.

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.

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.

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.

Keywords - Diseasei

Disease mutation

Organism-specific databases

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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 397397Transcription factor GATA-5PRO_0000083418Add
BLAST

Proteomic databases

PaxDbiQ9BWX5.
PRIDEiQ9BWX5.

PTM databases

PhosphoSiteiQ9BWX5.

Expressioni

Gene expression databases

BgeeiQ9BWX5.
CleanExiHS_GATA5.
GenevisibleiQ9BWX5. HS.

Interactioni

Protein-protein interaction databases

BioGridi126640. 1 interaction.
STRINGi9606.ENSP00000252997.

Structurei

3D structure databases

ProteinModelPortaliQ9BWX5.
SMRiQ9BWX5. Positions 185-293.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 2 GATA-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

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

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5641.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiQ9BWX5.
KOiK17896.
OMAiWTAGPFD.
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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti92 – 921A → T in AAH47790 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31Q → R Probable disease-associated mutation found in patients with AOVD. 1 Publication
VAR_073309
Natural varianti16 – 161Y → D Probable disease-associated mutation found in patients with AOVD; decreases transactivation activity. 1 Publication
VAR_073310
Natural varianti19 – 191S → W Probable disease-associated mutation found in patients with AOVD. 1 Publication
VAR_073311
Natural varianti138 – 1381Y → F Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication
VAR_073312
Natural varianti142 – 1421Y → H Probable disease-associated mutation found in patients with AOVD. 1 Publication
VAR_073313
Natural varianti166 – 1661G → S Probable disease-associated mutation found in patients with AOVD. 1 Publication
VAR_073314
Natural varianti184 – 1841G → V Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication
VAR_067699
Natural varianti187 – 1871R → G Probable disease-associated mutation found in patients with TOF; decreases transactivation activity. 1 Publication
VAR_073070
Natural varianti199 – 1991L → V Probable disease-associated mutation found in patients with ventriculoseptal defect; decreases transactivation activity. 1 Publication
VAR_073071
Natural varianti200 – 2001W → G Probable disease-associated mutation found in patients with atrial fibrillation; decreases transactivation activity. 1 Publication
VAR_073072
Natural varianti203 – 2031D → E Probable disease-associated mutation found in patients with TOF; decreases transactivation activity. 1 Publication
VAR_073315
Natural varianti207 – 2071H → R Probable disease-associated mutation found in patients with TOF; decreases transactivation activity. 1 Publication
VAR_073073
Natural varianti210 – 2101C → G Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication
VAR_073316
Natural varianti218 – 2181K → T Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication
VAR_067700
Natural varianti240 – 2401G → D Probable disease-associated mutation found in patients with CMD; decreases transactivation activity. 1 Publication
VAR_073317
Natural varianti252 – 2521T → P Probable disease-associated mutation found in patients with AOVD; decreases transactivation activity. 1 Publication
VAR_073318
Natural varianti266 – 2661A → P Probable disease-associated mutation found in patients with atrial fibrillation. 1 Publication
VAR_067701

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006723699.2.
UniGeneiHs.352250.

Genome annotation databases

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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006723699.2.
UniGeneiHs.352250.

3D structure databases

ProteinModelPortaliQ9BWX5.
SMRiQ9BWX5. Positions 185-293.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126640. 1 interaction.
STRINGi9606.ENSP00000252997.

PTM databases

PhosphoSiteiQ9BWX5.

Polymorphism and mutation databases

BioMutaiGATA5.
DMDMi20138325.

Proteomic databases

PaxDbiQ9BWX5.
PRIDEiQ9BWX5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi140628.
GeneCardsiGC20M061038.
HGNCiHGNC:15802. GATA5.
MIMi611496. gene.
neXtProtiNX_Q9BWX5.
Orphaneti334. Familial atrial fibrillation.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBiPA28588.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5641.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiQ9BWX5.
KOiK17896.
OMAiWTAGPFD.
OrthoDBiEOG7CCBRF.
PhylomeDBiQ9BWX5.
TreeFamiTF315391.

Enzyme and pathway databases

ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

GeneWikiiGATA5.
GenomeRNAii140628.
NextBioi84201.
PROiQ9BWX5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BWX5.
CleanExiHS_GATA5.
GenevisibleiQ9BWX5. HS.

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]
ProtoNetiSearch...

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. "Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation."
    Gu J.Y., Xu J.H., Yu H., Yang Y.Q.
    Clinics (Sao Paulo) 67:1393-1399(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PHE-138 AND GLY-210.
  6. "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.
  7. "Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease."
    Padang R., Bagnall R.D., Richmond D.R., Bannon P.G., Semsarian C.
    J. Mol. Cell. Cardiol. 53:277-281(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-3; TRP-19; HIS-142 AND SER-166.
  8. "GATA5 loss-of-function mutations underlie tetralogy of fallot."
    Wei D., Bao H., Liu X.Y., Zhou N., Wang Q., Li R.G., Xu Y.J., Yang Y.Q.
    Int. J. Med. Sci. 10:34-42(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLY-187 AND ARG-207, CHARACTERIZATION OF VARIANTS GLY-187 AND ARG-207, FUNCTION.
  9. "A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation."
    Wang X.H., Huang C.X., Wang Q., Li R.G., Xu Y.J., Liu X., Fang W.Y., Yang Y.Q.
    Int. J. Mol. Med. 31:43-50(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLY-200, CHARACTERIZATION OF VARIANT GLY-200.
  10. "GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect."
    Wei D., Bao H., Zhou N., Zheng G.F., Liu X.Y., Yang Y.Q.
    Pediatr. Cardiol. 34:504-511(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VAL-199, CHARACTERIZATION OF VARIANT VAL-199.
  11. "GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve."
    Shi L.M., Tao J.W., Qiu X.B., Wang J., Yuan F., Xu L., Liu H., Li R.G., Xu Y.J., Wang Q., Zheng H.Z., Li X., Wang X.Z., Zhang M., Qu X.K., Yang Y.Q.
    Int. J. Mol. Med. 33:1219-1226(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASP-16 AND PRO-252, CHARACTERIZATION OF VARIANTS ASP-16 AND PRO-252.
  12. "Somatic GATA5 mutations in sporadic tetralogy of Fallot."
    Huang R.T., Xue S., Xu Y.J., Zhou M., Yang Y.Q.
    Int. J. Mol. Med. 33:1227-1235(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLU-203, CHARACTERIZATION OF VARIANT GLU-203.
  13. Cited for: VARIANT ASP-240, CHARACTERIZATION OF VARIANT ASP-240, FUNCTION.

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: July 22, 2015
This is version 122 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.