Reviewed, UniProtKB/Swiss-Prot P43694 (GATA4_HUMAN)

Names and origin

Protein names

Recommended name:
    Transcription factor GATA-4
Alternative name(s):
    GATA-binding factor 4

Gene names

Name:

GATA4

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	442 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Transcriptional activator. Binds to the consensus sequence 5'-AGATAG-3'. Acts as a transcriptional activator of ANF in cooperation with NKX2-5 By similarity.
Subunit structure	Interacts with ZNF260 By similarity. Interacts with the homeobox domain of NKX2-5 through its C-terminal zinc finger. Also interacts with JARID2 which represses its ability to activate transcription of ANF By similarity.
Subcellular location	Nucleus.
Involvement in disease	Defects in GATA4 are the cause of atrial septal defect type 2 (ASD2) [MIM:607941]. ASD2 is a congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ASD2 patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. ASD2 is not associated with defects in the cardiac conduction system or non-cardiac abnormalities.
Sequence similarities	Contains 2 GATA-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Disease	Atrial septal defect Cardiomyopathy Disease mutation
Domain	Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator
Gene Ontology (GO)
Biological process	cell-cell signaling Inferred from sequence or structural similarity. Source: UniProtKB embryonic foregut morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB embryonic heart tube anterior/posterior pattern formation Inferred from sequence or structural similarity. Source: UniProtKB heart looping Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of angiogenesis Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of gene-specific transcription Inferred from sequence or structural similarity. Source: UniProtKB positive regulation vascular endothelial growth factor production Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	nucleus Ref.3 Non-traceable author statement. Source: UniProtKB
Molecular function	protein binding Ref.3 Inferred from physical interaction. Source: UniProtKB sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro specific RNA polymerase II transcription factor activity Inferred from sequence or structural similarity. Source: UniProtKB transcription activator activity Inferred from electronic annotation. Source: InterPro transcription factor activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 442	442	Transcription factor GATA-4		PRO_0000083413
Regions
	Zinc finger	217 – 241	25	GATA-type 1
	Zinc finger	271 – 295	25	GATA-type 2
	Compositional bias	118 – 126	9	Poly-Ala
	Compositional bias	174 – 181	8	Poly-Ala
	Compositional bias	276 – 280	5	Poly-Thr
Natural variations
	Natural variant	52	1	S → F in ASD2.		VAR_038195
	Natural variant	296	1	G → S in ASD2.		VAR_016204
	Natural variant	377	1	S → G: dbSNP rs3729856.		VAR_038196
Experimental info
	Sequence conflict	19	1	E → Q in AAA58496. Ref.1
	Sequence conflict	25	1	A → P in AAA58496. Ref.1
	Sequence conflict	39	1	V → L in AAA58496. Ref.1
	Sequence conflict	66	1	A → P in AAA58496. Ref.1
	Sequence conflict	71	1	S → P in AAA58496. Ref.1
	Sequence conflict	95	1	D → T in AAA58496. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P43694-1 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: 141B8CD841E12C7B	FASTA	442	44,565
	10 20 30 40 50 60 MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG LSYLQGGGAG 70 80 90 100 110 120 SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT PPPVSPRFSF PGTTGSLAAA 130 140 150 160 170 180 AAAAAAREAA AYSSGGGAAG AGLAGREQYG RAGFAGSYSS PYPAYMADVG ASWAAAAAAS 190 200 210 220 230 240 AGPFDSPVLH SLPGRANPAA RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA 250 260 270 280 290 300 CGLYHKMNGI NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK 310 320 330 340 350 360 LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS SNATTSSSEE 370 380 390 400 410 420 MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL SALKLSPQGY ASPVSQSPQT 430 440 SSKQDSWNSL VLADSHGDII TA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA." Huang W.Y., Cukerman E., Liew C.C. Gene 155:219-223(1995) [PubMed: 7721094] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Heart.
[2]	"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]. Tissue: Heart and Lung.
[3]	"GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5." Garg V., Kathiriya I.S., Barnes R., Schluterman M.K., King I.N., Butler C.A., Rothrock C.R., Eapen R.S., Hirayama-Yamada K., Joo K., Matsuoka R., Cohen J.C., Srivastava D. Nature 424:443-447(2003) [PubMed: 12845333] [Abstract] Cited for: VARIANT ASD2 SER-296.
[4]	"Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect." Hirayama-Yamada K., Kamisago M., Akimoto K., Aotsuka H., Nakamura Y., Tomita H., Furutani M., Imamura S., Takao A., Nakazawa M., Matsuoka R. Am. J. Med. Genet. A 135:47-52(2005) [PubMed: 15810002] [Abstract] Cited for: VARIANTS ASD2 PHE-52 AND SER-296.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	L34357 mRNA. Translation: AAA58496.1. BC101580 mRNA. Translation: AAI01581.1. BC105108 mRNA. Translation: AAI05109.1.
UniGene	Hs.243987
3D structure databases
HSSP	HSSP built from PDB template 1GNF based on UniProtKB P17679.
SMR	P43694. Positions 212-256.
ModBase	Search...
PTM databases
PhosphoSite	P43694.
Genome annotation databases
Ensembl	ENSG00000136574. Homo sapiens. [Contig view]
Organism-specific databases
H-InvDB	HIX0007316.
HGNC	HGNC:4173. GATA4.
HPA	CAB013125.
MIM	600576. gene. 607941. phenotype.
Orphanet	1478. Interauricular communication.
PharmGKB	PA28587.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P43694.
HOVERGEN	P43694.
Gene expression databases
ArrayExpress	P43694.
CleanEx	HS_GATA4.
GermOnline	ENSG00000136574. Homo sapiens.
Family and domain databases
InterPro	IPR008013. GATA_N. IPR016375. TF_GATA_4/5/6. 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. PF05349. GATA-N. 1 hit. [Graphical view]
PIRSF	PIRSF003028. TF_GATA_4/5/6. 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
SOURCE	Search...

Entry information

Entry name

GATA4_HUMAN

Accession

Primary (citable) accession number: P43694
Secondary accession number(s): Q3MJ45

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	November 25, 2008
Last modified:	November 25, 2008
This is version 81 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)