Reviewed, UniProtKB/Swiss-Prot P23771 (GATA3_HUMAN)

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

Name:

GATA3

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	Nucleus.
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

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Disease mutation
Domain	Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator
Gene Ontology (GO)
Biological process	anatomical structure morphogenesis Ref.7 Traceable author statement. Source: ProtInc defense response Traceable author statement. Source: ProtInc regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW response to estrogen stimulus Inferred from expression pattern. Source: UniProtKB sensory perception of sound Inferred from electronic annotation. Source: UniProtKB-KW transcription from RNA polymerase II promoter Ref.4 Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from direct assay. Source: LIFEdb
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor activity Ref.1 Traceable author statement. Source: ProtInc transcription factor binding Inferred from physical interaction. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1991. Version 1. Checksum: F24C58681E1D02A5	FASTA	443	47,916
	10 20 30 40 50 60 MEVTADQPRW VSHHHPAVLN GQHPDTHHPG LSHSYMDAAQ YPLPEEVDVL FNIDGQGNHV 70 80 90 100 110 120 PPYYGNSVRA TVQRYPPTHH GSQVCRPPLL HGSLPWLDGG KALGSHHTAS PWNLSPFSKT 130 140 150 160 170 180 SIHHGSPGPL SVYPPASSSS LSGGHASPHL FTFPPTPPKD VSPDPSLSTP GSAGSARQDE 190 200 210 220 230 240 KECLKYQVPL PDSMKLESSH SRGSMTALGG ASSSTHHPIT TYPPYVPEYS SGLFPPSSLL 250 260 270 280 290 300 GGSPTGFGCK SRPKARSSTG RECVNCGATS TPLWRRDGTG HYLCNACGLY HKMNGQNRPL 310 320 330 340 350 360 IKPKRRLSAA RRAGTSCANC QTTTTTLWRR NANGDPVCNA CGLYYKLHNI NRPLTMKKEG 370 380 390 400 410 420 IQTRNRKMSS KSKKCKKVHD SLEDFPKNSS FNPAALSRHM SSLSHISPFS HSSHMLTTPT 430 440 PMHPPSSLSF GPHHPSSMVT AMG
	Isoform 2. Checksum: 506051438132F1D0	FASTA	444	48,045
	10 20 30 40 50 60 MEVTADQPRW VSHHHPAVLN GQHPDTHHPG LSHSYMDAAQ YPLPEEVDVL FNIDGQGNHV 70 80 90 100 110 120 PPYYGNSVRA TVQRYPPTHH GSQVCRPPLL HGSLPWLDGG KALGSHHTAS PWNLSPFSKT 130 140 150 160 170 180 SIHHGSPGPL SVYPPASSSS LSGGHASPHL FTFPPTPPKD VSPDPSLSTP GSAGSARQDE 190 200 210 220 230 240 KECLKYQVPL PDSMKLESSH SRGSMTALGG ASSSTHHPIT TYPPYVPEYS SGLFPPSSLL 250 260 270 280 290 300 GGSPTGFGCK SRPKARSSTE GRECVNCGAT STPLWRRDGT GHYLCNACGL YHKMNGQNRP 310 320 330 340 350 360 LIKPKRRLSA ARRAGTSCAN CQTTTTTLWR RNANGDPVCN ACGLYYKLHN INRPLTMKKE 370 380 390 400 410 420 GIQTRNRKMS SKSKKCKKVH DSLEDFPKNS SFNPAALSRH MSSLSHISPF SHSSHMLTTP 430 440 TPMHPPSSLS FGPHHPSSMV TAMG

References

	« Hide 'large scale' referencesShow '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.

Web resources

GeneReviews

SeattleSNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	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

Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
Last sequence update:	November 1, 1991
Last modified:	June 16, 2009
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)