InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GATA1

Summary

InnateDB Protein

IDBP-63882.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GATA1

Protein Name

GATA binding protein 1 (globin transcription factor 1)

Synonyms

ERYF1; GATA-1; GF-1; GF1; NF-E1; NFE1; XLANP; XLTDA; XLTT;

Species

Homo sapiens

Ensembl Protein

ENSP00000365858

InnateDB Gene

IDBG-63880 (GATA1)

Protein Structure

UniProt Annotation

Function

Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. {ECO:0000269PubMed:22235304}.

Subcellular Localization

Nucleus.

Disease Associations

X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]: Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes. {ECO:0000269PubMed:10700180, ECO:0000269PubMed:11418466, ECO:0000269PubMed:11675338, ECO:0000269PubMed:11809723}. Note=The disease is caused by mutations affecting the gene represented in this entry.Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050]: An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor. {ECO:0000269PubMed:12200364}. Note=The disease is caused by mutations affecting the gene represented in this entry.Anemia without thrombocytopenia, X-linked (XLAWT) [MIM:300835]: A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals. {ECO:0000269PubMed:16783379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Erythrocytes. {ECO:0000269PubMed:8524811}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 71 experimentally validated interaction(s) in this database.
They are also associated with 33 interaction(s) predicted by orthology.

Experimentally validated
Total	74 [view]
Protein-Protein	61 [view]
Protein-DNA	13 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	33 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000976	transcription regulatory region sequence-specific DNA binding
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0001085	RNA polymerase II transcription factor binding
GO:0001158	enhancer sequence-specific DNA binding
GO:0002039	p53 binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0008301	DNA binding, bending
GO:0031490	chromatin DNA binding
GO:0043565	sequence-specific DNA binding
GO:0070742	C2H2 zinc finger domain binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001701	in utero embryonic development
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007267	cell-cell signaling
GO:0007596	blood coagulation
GO:0008285	negative regulation of cell proliferation
GO:0008584	male gonad development
GO:0010559	regulation of glycoprotein biosynthetic process
GO:0010724	regulation of definitive erythrocyte differentiation
GO:0030099	myeloid cell differentiation
GO:0030218	erythrocyte differentiation
GO:0030219	megakaryocyte differentiation
GO:0030220	platelet formation
GO:0030221	basophil differentiation
GO:0030222	eosinophil differentiation
GO:0030502	negative regulation of bone mineralization
GO:0033690	positive regulation of osteoblast proliferation
GO:0035162	embryonic hemopoiesis
GO:0035854	eosinophil fate commitment
GO:0043066	negative regulation of apoptotic process
GO:0045648	positive regulation of erythrocyte differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048468	cell development
GO:0048821	erythrocyte development
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation
GO:0070527	platelet aggregation
GO:0071733	transcriptional activation by promoter-enhancer looping
GO:0097028	dendritic cell differentiation
GO:0097067	cellular response to thyroid hormone stimulus
GO:2000678	negative regulation of transcription regulatory region DNA binding
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand