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Q9BWX5 (GATA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor GATA-5
Alternative name(s):
GATA-binding factor 5
Gene names
Name:GATA5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length397 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus By similarity.

Involvement in disease

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.

Sequence similarities

Contains 2 GATA-type zinc fingers.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 397397Transcription factor GATA-5
PRO_0000083418

Regions

Zinc finger189 – 21325GATA-type 1
Zinc finger243 – 26725GATA-type 2

Natural variations

Natural variant1841G → V Probable disease-associated mutation found in patients with atrial fibrillation. Ref.5
VAR_067699
Natural variant2181K → T Probable disease-associated mutation found in patients with atrial fibrillation. Ref.5
VAR_067700
Natural variant2661A → P Probable disease-associated mutation found in patients with atrial fibrillation. Ref.5
VAR_067701

Experimental info

Sequence conflict921A → T in AAH47790. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q9BWX5 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 5DFBA02085695C57

FASTA39741,299
        10         20         30         40         50         60 
MYQSLALAAS PRQAAYADSG SFLHAPGAGS PMFVPPARVP SMLSYLSGCE PSPQPPELAA 

        70         80         90        100        110        120 
RPGWAQTATA DSSAFGPGSP HPPAAHPPGA TAFPFAHSPS GPGSGGSAGG RDGSAYQGAL 

       130        140        150        160        170        180 
LPREQFAAPL GRPVGTSYSA TYPAYVSPDV AQSWTAGPFD GSVLHGLPGR RPTFVSDFLE 

       190        200        210        220        230        240 
EFPGEGRECV NCGALSTPLW RRDGTGHYLC NACGLYHKMN GVNRPLVRPQ KRLSSSRRAG 

       250        260        270        280        290        300 
LCCTNCHTTN TTLWRRNSEG EPVCNACGLY MKLHGVPRPL AMKKESIQTR KRKPKTIAKA 

       310        320        330        340        350        360 
RGSSGSTRNA SASPSAVAST DSSAATSKAK PSLASPVCPG PSMAPQASGQ EDDSLAPGHL 

       370        380        390 
EFKFEPEDFA FPSTAPSPQA GLRGALRQEA WCALALA 

« Hide

References

« Hide 'large scale' references
[1]Rieder M.J., Bertucci C., Stanaway I.B., Johnson E.J., Swanson J.E., Siegel D.L., da Ponte S.H., Igartua C., Patterson K., Nickerson D.A.
Submitted (MAR-2010) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS13499.1.
RefSeqNP_536721.1. NM_080473.4.
XP_006723762.1. XM_006723699.1.
UniGeneHs.352250.

3D structure databases

ProteinModelPortalQ9BWX5.
SMRQ9BWX5. Positions 185-293.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126640. 1 interaction.
STRING9606.ENSP00000252997.

PTM databases

PhosphoSiteQ9BWX5.

Polymorphism databases

DMDM20138325.

Proteomic databases

PaxDbQ9BWX5.
PRIDEQ9BWX5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252997; ENSP00000252997; ENSG00000130700.
ENST00000567532; ENSP00000456153; ENSG00000261345.
GeneID140628.
KEGGhsa:140628.
UCSCuc002ycx.1. human.

Organism-specific databases

CTD140628.
GeneCardsGC20M061038.
HGNCHGNC:15802. GATA5.
MIM611496. gene.
neXtProtNX_Q9BWX5.
Orphanet334. Familial atrial fibrillation.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBPA28588.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5641.
HOVERGENHBG051703.
InParanoidQ9BWX5.
KOK17896.
OMAGHFESSV.
OrthoDBEOG7CCBRF.
PhylomeDBQ9BWX5.
TreeFamTF315391.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressQ9BWX5.
BgeeQ9BWX5.
CleanExHS_GATA5.
GenevestigatorQ9BWX5.

Family and domain databases

Gene3D3.30.50.10. 2 hits.
InterProIPR008013. GATA_N.
IPR028372. TF_GATA-5.
IPR016375. TF_GATA_4/5/6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERPTHR10071:SF148. PTHR10071:SF148. 1 hit.
PfamPF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view]
PIRSFPIRSF003028. TF_GATA_4/5/6. 1 hit.
PRINTSPR00619. GATAZNFINGER.
SMARTSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGATA5.
GenomeRNAi140628.
NextBio84201.
PROQ9BWX5.
SOURCESearch...

Entry information

Entry nameGATA5_HUMAN
AccessionPrimary (citable) accession number: Q9BWX5
Secondary accession number(s): D9ZGF7, Q17RE2, Q86VU4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM