P23771 (GATA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 143.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Trans-acting T-cell-specific transcription factor GATA-3 Alternative name(s): GATA-binding factor 3 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 443 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. |
| Subcellular location | |
| Tissue specificity | T-cells and endothelial cells. |
| Domain | Binds DNA via the 2 GATA-type zinc fingers By similarity. |
| Involvement in disease | Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255]: A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia. |
| Sequence similarities | Contains 2 GATA-type zinc fingers. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P23771-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P23771-2) The sequence of this isoform differs from the canonical sequence as follows: 259-259: T → TE |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||
Molecule processing | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 443 | 443 | Trans-acting T-cell-specific transcription factor GATA-3 | PRO_0000083408 | |||||||||||||||||
Regions | |||||||||||||||||||||
| Zinc finger | 263 – 287 | 25 | GATA-type 1 | ||||||||||||||||||
| Zinc finger | 317 – 341 | 25 | GATA-type 2 | ||||||||||||||||||
| Compositional bias | 137 – 142 | 6 | Poly-Ser | ||||||||||||||||||
| Compositional bias | 322 – 326 | 5 | Poly-Thr | ||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||
| Modified residue | 115 | 1 | Phosphoserine Ref.10 | ||||||||||||||||||
| Modified residue | 162 | 1 | Phosphoserine Ref.10 | ||||||||||||||||||
Natural variations | |||||||||||||||||||||
| Alternative sequence | 259 | 1 | T → TE in isoform 2. | VSP_001598 | |||||||||||||||||
| Natural variant | 242 | 1 | G → S. Ref.5 Corresponds to variant rs11567901 [ dbSNP | Ensembl ]. | VAR_019202 | |||||||||||||||||
| Natural variant | 274 | 1 | W → R in HDR. Ref.11 | VAR_017818 | |||||||||||||||||
| Natural variant | 366 | 1 | R → L in a breast cancer sample; somatic mutation. Ref.12 | VAR_033025 | |||||||||||||||||
Experimental info | |||||||||||||||||||||
| Sequence conflict | 11 | 1 | V → L in AAA35870. Ref.4 | ||||||||||||||||||
| Sequence conflict | 102 | 1 | A → V in CAA38877. Ref.2 | ||||||||||||||||||
| Sequence conflict | 173 | 1 | A → G in CAA38877. Ref.2 | ||||||||||||||||||
| Sequence conflict | 219 | 1 | I → Y in AAA35870. Ref.4 | ||||||||||||||||||
| Sequence conflict | 225 – 226 | 2 | YV → TC in AAA35870. Ref.4 | ||||||||||||||||||
| Sequence conflict | 285 – 286 | 2 | NA → RR in AAA35870. Ref.4 | ||||||||||||||||||
| Sequence conflict | 425 | 1 | P → A in AAA35870. Ref.4 | ||||||||||||||||||
| Sequence conflict | 441 | 1 | A → G in AAA35870. Ref.4 | ||||||||||||||||||
Secondary structure | |||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||
| Turn | 264 – 266 | 3 | |||||||||||||||||||
| Helix | 285 – 294 | 10 | |||||||||||||||||||
| Beta strand | 307 – 313 | 7 | |||||||||||||||||||
| Turn | 318 – 320 | 3 | |||||||||||||||||||
| Helix | 339 – 348 | 10 | |||||||||||||||||||
| Helix | 354 – 356 | 3 | |||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A T-cell specific TCR delta DNA binding protein is a member of the human GATA family." Joulin V., Bories D., Eleouet J.-F., Labastie M.-C., Chretien S., Mattei M.-G., Romeo P.-H. EMBO J. 10:1809-1816(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: T-cell. |
| [2] | "Human GATA-3: a lineage-restricted transcription factor that regulates the expression of the T cell receptor alpha gene." Ho I.-C., Vorhees P., Marin N., Oakley B.K., Tsai S.-F., Orkin S.H., Leiden J.M. EMBO J. 10:1187-1192(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: T-cell. |
| [3] | "Murine and human T-lymphocyte GATA-3 factors mediate transcription through a cis-regulatory element within the human T-cell receptor delta gene enhancer." Ko L.J., Yamamoto M., Leonard M.W., George K.M., Ting P., Engel J.D. Mol. Cell. Biol. 11:2778-2784(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: T-cell. |
| [4] | "The human enhancer-binding protein Gata3 binds to several T-cell receptor regulatory elements." Marine J., Winoto A. Proc. Natl. Acad. Sci. U.S.A. 88:7284-7288(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). |
| [5] | SeattleSNPs variation discovery resource Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-242. |
| [6] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | Mural R.J., Istrail S., Sutton G.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. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "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] (ISOFORMS 1 AND 2). Tissue: Cervix and Placenta. |
| [9] | "GATA3 haplo-insufficiency causes human HDR syndrome." Van Esch H., Groenen P., Nesbit M.A., Schuffenhauer S., Lichtner P., Vanderlinden G., Harding B., Beetz R., Bilous R.W., Holdaway I., Shaw N.J., Fryns J.-P., Van de Ven W., Thakker R.V., Devriendt K. Nature 406:419-422(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN HDR. |
| [10] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-115 AND SER-162, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [11] | "GATA3 abnormalities and the phenotypic spectrum of HDR syndrome." Muroya K., Hasegawa T., Ito Y., Nagai T., Isotani H., Iwata Y., Yamamoto K., Fujimoto S., Seishu S., Fukushima Y., Hasegawa Y., Ogata T. J. Med. Genet. 38:374-380(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDR ARG-274. |
| [12] | "Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas." Chanock S.J., Burdett L., Yeager M., Llaca V., Langeroed A., Presswalla S., Kaaresen R., Strausberg R.L., Gerhard D.S., Kristensen V., Perou C.M., Boerresen-Dale A.-L. Breast Cancer Res. 9:R5-R5(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LEU-366. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | X58072 mRNA. Translation: CAA41102.1. X55037 mRNA. Translation: CAA38877.1. X55122 mRNA. Translation: CAA38916.1. M69106 mRNA. Translation: AAA35870.1. AY497006 Genomic DNA. Translation: AAR32096.1. AL390294 Genomic DNA. Translation: CAH73143.1. AL390294 Genomic DNA. Translation: CAH73144.1. CH471072 Genomic DNA. Translation: EAW86367.1. CH471072 Genomic DNA. Translation: EAW86368.1. BC003070 mRNA. Translation: AAH03070.1. BC006793 mRNA. Translation: AAH06793.1. | ||||||||||||||||||||||||
| IPI | IPI00012901. IPI00216199. | ||||||||||||||||||||||||
| PIR | A39794. | ||||||||||||||||||||||||
| RefSeq | NP_001002295.1. NM_001002295.1. NP_002042.1. NM_002051.2. | ||||||||||||||||||||||||
| UniGene | Hs.524134. | ||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||||||||||||||
| ProteinModelPortal | P23771. | ||||||||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||
| STRING | 9606.ENSP00000368632. | ||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||
| PhosphoSite | P23771. | ||||||||||||||||||||||||
Polymorphism databases | |||||||||||||||||||||||||
| DMDM | 120962. | ||||||||||||||||||||||||
Proteomic databases | |||||||||||||||||||||||||
| PaxDb | P23771. | ||||||||||||||||||||||||
| PRIDE | P23771. | ||||||||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||||||||
| DNASU | 2625. | ||||||||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||
| Ensembl | ENST00000346208; ENSP00000341619; ENSG00000107485. ENST00000379328; ENSP00000368632; ENSG00000107485. | ||||||||||||||||||||||||
| GeneID | 2625. | ||||||||||||||||||||||||
| KEGG | hsa:2625. | ||||||||||||||||||||||||
| UCSC | uc001ijz.3. human. uc001ika.3. human. | ||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||
| CTD | 2625. | ||||||||||||||||||||||||
| GeneCards | GC10P008095. | ||||||||||||||||||||||||
| HGNC | HGNC:4172. GATA3. | ||||||||||||||||||||||||
| HPA | HPA029730. HPA029731. | ||||||||||||||||||||||||
| MIM | 131320. gene. 146255. phenotype. | ||||||||||||||||||||||||
| neXtProt | NX_P23771. | ||||||||||||||||||||||||
| Orphanet | 2237. Hypoparathyroidism - deafness - renal disease. | ||||||||||||||||||||||||
| PharmGKB | PA28586. | ||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||
| eggNOG | COG5641. | ||||||||||||||||||||||||
| HOGENOM | HOG000047701. | ||||||||||||||||||||||||
| HOVERGEN | HBG051705. | ||||||||||||||||||||||||
| KO | K09182. | ||||||||||||||||||||||||
| OMA | HHPSSMV. | ||||||||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||||||||
| Pathway_Interaction_DB | nfat_tfpathway. Calcineurin-regulated NFAT-dependent transcription in lymphocytes. il27pathway. IL27-mediated signaling events. smad2_3nuclearpathway. Regulation of nuclear SMAD2/3 signaling. | ||||||||||||||||||||||||
| Reactome | REACT_604. Hemostasis. | ||||||||||||||||||||||||
Gene expression databases | |||||||||||||||||||||||||
| Bgee | P23771. | ||||||||||||||||||||||||
| CleanEx | HS_GATA3. | ||||||||||||||||||||||||
| Genevestigator | P23771. | ||||||||||||||||||||||||
| GermOnline | ENSG00000107485. Homo sapiens. | ||||||||||||||||||||||||
Family and domain databases | |||||||||||||||||||||||||
| Gene3D | 3.30.50.10. 2 hits. | ||||||||||||||||||||||||
| InterPro | IPR016374. TF_GATA-1/2/3. IPR000679. Znf_GATA. IPR013088. Znf_NHR/GATA. [Graphical view] | ||||||||||||||||||||||||
| Pfam | PF00320. GATA. 2 hits. [Graphical view] | ||||||||||||||||||||||||
| PIRSF | PIRSF003027. TF_GATA-1/2/3. 1 hit. | ||||||||||||||||||||||||
| PRINTS | PR00619. GATAZNFINGER. | ||||||||||||||||||||||||
| SMART | SM00401. ZnF_GATA. 2 hits. [Graphical view] | ||||||||||||||||||||||||
| PROSITE | PS00344. GATA_ZN_FINGER_1. 2 hits. PS50114. GATA_ZN_FINGER_2. 2 hits. [Graphical view] | ||||||||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||||||||
Other | |||||||||||||||||||||||||
| GenomeRNAi | 2625. | ||||||||||||||||||||||||
| NextBio | 10339. | ||||||||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||||||||
Entry information
| Entry name | GATA3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P23771 Secondary accession number(s): Q5VWG7, Q5VWG8, Q96J16 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
