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Q9BWX5

- GATA5_HUMAN

UniProt

Q9BWX5 - GATA5_HUMAN

Protein

Transcription factor GATA-5

Gene

GATA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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.By similarity

    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

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

    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: UniProtKB

    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: MGI

    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-5PRO_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.
    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.
    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.

    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 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 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.
    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...
    MobiDBi 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 .
    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

    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: October 1, 2014
    This is version 115 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