Display Settings:

Format

Send to:

Choose Destination

GATA1 GATA binding protein 1 (globin transcription factor 1) [ Homo sapiens (human) ]

Gene ID: 2623, updated on 11-Aug-2014
Official Symbol
GATA1provided by HGNC
Official Full Name
GATA binding protein 1 (globin transcription factor 1)provided by HGNC
Primary source
HGNC:4170
See related
Ensembl:ENSG00000102145; HPRD:02372; MIM:305371; Vega:OTTHUMG00000021504
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GF1; GF-1; NFE1; XLTT; ERYF1; NF-E1; XLANP; XLTDA; GATA-1
Summary
This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
See GATA1 in Epigenomics, MapViewer
Location:
Xp11.23
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (48786574..48794311)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48644982..48652718)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glyoxalase domain containing 5 Neighboring gene acetyl-CoA acyltransferase 2 pseudogene Neighboring gene histone deacetylase 6 Neighboring gene ES cell expressed Ras

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Nef nef Amino acids 19-26 of HIV-1 Nef mediate the binding of Nef to murine GATA-1 and GATA-3 in vitro, suggesting Nef may act as a nuclear regulatory factor through binding to human GATA-1 and GATA-3 PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C2H2 zinc finger domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding, bending IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin DNA binding IDA
Inferred from Direct Assay
more info
 
enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
p53 binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
basophil differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
cellular response to thyroid hormone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
embryonic hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
eosinophil differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
eosinophil fate commitment IDA
Inferred from Direct Assay
more info
PubMed 
erythrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
erythrocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
megakaryocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
 
negative regulation of transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of osteoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of definitive erythrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of glycoprotein biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional activation by promoter-enhancer looping ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional repressor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
erythroid transcription factor
Names
erythroid transcription factor
GATA-binding factor 1
NF-E1 DNA-binding protein
transcription factor GATA1
nuclear factor, erythroid 1
globin transcription factor 1
erythroid transcription factor 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008846.1 

    Range
    5001..12737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002049.3NP_002040.1  erythroid transcription factor

    See proteins identical to NP_002040.1

    Status: REVIEWED

    Source sequence(s)
    AI057349, X17254
    Consensus CDS
    CCDS14305.1
    UniProtKB/Swiss-Prot
    P15976
    Related
    ENSP00000365858, OTTHUMP00000023259, ENST00000376670, OTTHUMT00000056517
    Conserved Domains (1) summary
    cd00202
    Location:203247
    Blast Score: 188
    ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    48786574..48794311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    46304230..46311086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    48676125..48683862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)