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

Gene ID: 2623, updated on 21-Apr-2019

Summary

Official Symbol
GATA1provided by HGNC
Official Full Name
GATA binding protein 1provided by HGNC
Primary source
HGNC:HGNC:4170
See related
Ensembl:ENSG00000102145 MIM:305371
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]
Expression
Biased expression in bone marrow (RPKM 18.9) and placenta (RPKM 0.5) See more
Orthologs

Genomic context

See GATA1 in Genome Data Viewer
Location:
Xp11.23
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (48786540..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 RNA, U6 small nuclear 29, pseudogene Neighboring gene histone deacetylase 6 Neighboring gene ES cell expressed Ras

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal 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 
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 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 
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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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 hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
regulation of primitive erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II 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 
protein-DNA complex 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 

General protein information

Preferred Names
erythroid transcription factor
Names
GATA-binding factor 1
NF-E1 DNA-binding protein
erythroid transcription factor 1
globin transcription factor 1
nuclear factor, erythroid 1
transcription factor GATA1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000365858.3, ENST00000376670.8
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    48786540..48794311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543897.2XP_011542199.1  erythroid transcription factor isoform X1

    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_011543898.2XP_011542200.1  erythroid transcription factor isoform X2

    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
  3. XM_024452363.1XP_024308131.1  erythroid transcription factor isoform X3

    Related
    ENSP00000498550.1, ENST00000651144.1
    Conserved Domains (1) summary
    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
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