Reviewed,
UniProtKB/Swiss-Prot P23771 (GATA3_HUMAN)
Last modified
June 16, 2009.
Version 102.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names 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) | ||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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. |
| Involvement in disease | Defects in GATA3 are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]; also known as Barakat syndrome. Ref.7 Ref.8 |
| 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 | ||||||
| Note: No experimental confirmation available. |
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 | ||||||
Natural variations | |||||||||
| Alternative sequence | 259 | 1 | T → TE in isoform 2. | VSP_001598 | |||||
| Natural variant | 242 | 1 | G → S: dbSNP rs11567901. Ref.5 | VAR_019202 | |||||
| Natural variant | 274 | 1 | W → R in HDR. Ref.8 | VAR_017818 | |||||
| Natural variant | 366 | 1 | R → L in a breast cancer sample; somatic mutation. Ref.9 | 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 | ||||||
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: 2050118] [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: 1827068] [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: 2017177] [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: 1871134] [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 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Cervix and Placenta. |
| [7] | "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: 10935639] [Abstract] Cited for: INVOLVEMENT IN HDR. |
| [8] | "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: 11389161] [Abstract] Cited for: VARIANT HDR ARG-274. |
| [9] | "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: 17224074] [Abstract] Cited for: VARIANT LEU-366. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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. BC003070 mRNA. Translation: AAH03070.1. BC006793 mRNA. Translation: AAH06793.1. | |
| IPI | IPI00012901. IPI00216199. |
| PIR | A39794. |
| RefSeq | NP_001002295.1. NP_002042.1. |
| UniGene | Hs.524134 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1GNF based on UniProtKB P17679. |
| SMR | P23771. Positions 258-302, 311-374. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | P23771. |
Proteomic databases | |
| PRIDE | P23771. |
Genome annotation databases | |
| Ensembl | ENSG00000107485. Homo sapiens. [Contig view] |
| GeneID | 2625. |
| KEGG | hsa:2625. |
Organism-specific databases | |
| GeneCards | GC10P008136. |
| H-InvDB | HIX0008629. |
| HGNC | HGNC:4172. GATA3. |
| MIM | 131320. gene. 146255. phenotype. |
| Orphanet | 2237. Hypoparathyroidism - deafness - renal disease. |
| PharmGKB | PA28586. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | P23771. |
| OMA | P23771. VPEYSSG. |
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. |
Gene expression databases | |
| ArrayExpress | P23771. |
| Bgee | P23771. |
| CleanEx | HS_GATA3. |
| GermOnline | ENSG00000107485. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016374. TF_GATA-1/2/3. IPR000679. Znf_GATA. IPR013088. Znf_NHR/GATA. [Graphical view] |
| Gene3D | G3DSA:3.30.50.10. Znf_NHR/GATA. 2 hits. |
| 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 Resources | |
| NextBio | 10339. |
| SOURCE | Search... |
Entry information
| Entry name | GATA3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P23771 Secondary accession number(s): Q96J16 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |
| SIMILARITY comments Index of protein domains and families |

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