Gene table of GATA1 : GATA binding protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GATA1	OMIM link	Number of associated genes	genes
300367	THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GATA1
300835	ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES	ClinVar, OMIM	link to OMIM	1	GATA1
314050	THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GATA1
190685	DOWN SYNDROME	OMIM	link to OMIM	1	GATA1

Download the gene annotation in CSV format

Annotation of the gene GATA1

Associated genes in ENSEMBL

ENSG00000102145

Associated proteins - SwissProt Accession ID

P15976

Associated PDB IDs

Cytogenetic Band

Xp11.23

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Factors involved in megakaryocyte development and platelet production	R-HSA-983231	5.88
Hemostasis	R-HSA-109582	3.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
enhancer sequence-specific DNA binding	GO:0001158	5.36
chromatin DNA binding	GO:0031490	5.37
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001078	5.08
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
structure-specific DNA binding	GO:0043566	4.98
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
enhancer binding	GO:0035326	5.21
ion binding	GO:0043167	1.36
C2H2 zinc finger domain binding	GO:0070742	7.1
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
cation binding	GO:0043169	1.4
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
DNA binding, bending	GO:0008301	6.74
protein domain specific binding	GO:0019904	3.32
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
RNA polymerase II transcription factor binding	GO:0001085	5.08
transcription regulatory region DNA binding	GO:0044212	3.03
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001227	4.61
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
chromatin binding	GO:0003682	3.64
p53 binding	GO:0002039	5.53
zinc ion binding	GO:0008270	2.66