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

Gene ID: 2623, updated on 8-May-2016
Official Symbol
GATA1provided by HGNC
Official Full Name
GATA binding protein 1provided by HGNC
Primary source
HGNC: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]
Orthologs
Location:
Xp11.23
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (48786560..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 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 sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
core promoter binding IDA
Inferred from Direct Assay
more info
PubMed 
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 
transcription factor activity, sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA
Inferred from Biological aspect of Ancestor
more info
 
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
Inferred from Direct Assay
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
 
digestive tract development IBA
Inferred from Biological aspect of Ancestor
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 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
negative regulation of transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated 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 
regulation of primitive erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
 
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
GATA binding protein 1 (globin transcription factor 1)
GATA-binding factor 1
NF-E1 DNA-binding protein
erythroid transcription factor 1
globin transcription factor 1
nuclear factor, erythroid 1
transcription factor GATA1

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_008846.2 RefSeqGene

    Range
    5001..12738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_559

mRNA and Protein(s)

  1. NM_002049.3NP_002040.1  erythroid transcription factor

    See identical proteins and their annotated locations for 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 (2) summary
    smart00401
    Location:202247
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:203247
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    48786560..48794311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543897.1XP_011542199.1  

    Conserved Domains (2) summary
    smart00401
    Location:202247
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:203247
    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
  2. XM_011543898.1XP_011542200.1  

    Conserved Domains (2) summary
    smart00401
    Location:119164
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:120164
    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

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

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