Gata1 GATA binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gata1provided by MGI
Official Full Name: GATA binding protein 1provided by MGI
Primary source: MGI:MGI:95661
See related: Ensembl:ENSMUSG00000031162 AllianceGenome:MGI:95661
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gf-1; eryf1; Gata-1
Summary: Enables several functions, including DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and p53 binding activity. Involved in several processes, including platelet aggregation; regulation of cellular macromolecule biosynthetic process; and regulation of definitive erythrocyte differentiation. Acts upstream of or within several processes, including hemopoiesis; positive regulation of osteoblast proliferation; and regulation of primitive erythrocyte differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; ear; early conceptus; and genitourinary system. Used to study myelodysplastic syndrome; myelofibrosis; and thrombocytopenia. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; X-linked recessive disease (multiple); beta thalassemia; colon adenocarcinoma; and hematologic cancer (multiple). Orthologous to human GATA1 (GATA binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E14.5 (RPKM 70.8), liver E14 (RPKM 62.6) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 3.59 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (7825504..7842844, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (7959260..7976663, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gata1s mutant mice display persistent defects in the erythroid lineage.
Title: Gata1s mutant mice display persistent defects in the erythroid lineage.
GATA1 controls numbers of hematopoietic progenitors and their response to autoimmune neuroinflammation.
Title: GATA1 controls numbers of hematopoietic progenitors and their response to autoimmune neuroinflammation.
Zkscan3 affects erythroblast development by regulating the transcriptional activity of GATA1 and KLF1 in mice.
Title: Zkscan3 affects erythroblast development by regulating the transcriptional activity of GATA1 and KLF1 in mice.
GATA-1 mutation alters the spermatogonial phase and steroidogenesis in adult mouse testis.
Title: GATA-1 mutation alters the spermatogonial phase and steroidogenesis in adult mouse testis.
Resident Self-Tissue of Proinflammatory Cytokines Rather Than Their Systemic Levels Correlates with Development of Myelofibrosis in Gata1(low) Mice.
Title: Resident Self-Tissue of Proinflammatory Cytokines Rather Than Their Systemic Levels Correlates with Development of Myelofibrosis in Gata1(low) Mice.
Coordinated changes in gene expression kinetics underlie both mouse and human erythroid maturation.
Title: Coordinated changes in gene expression kinetics underlie both mouse and human erythroid maturation.
HDAC1 is required for GATA-1 transcription activity, global chromatin occupancy and hematopoiesis.
Title: HDAC1 is required for GATA-1 transcription activity, global chromatin occupancy and hematopoiesis.
Oncogenic Gata1 causes stage-specific megakaryocyte differentiation delay.
Title: Oncogenic Gata1 causes stage-specific megakaryocyte differentiation delay.
The dynamic emergence of GATA1 complexes identified in in vitro embryonic stem cell differentiation and in vivo mouse fetal liver.
Title: The dynamic emergence of GATA1 complexes identified in in vitro embryonic stem cell differentiation and in vivo mouse fetal liver.
Methylation of a CGATA element inhibits binding and regulation by GATA-1.
Title: Methylation of a CGATA element inhibits binding and regulation by GATA-1.

Submit: New GeneRIF Correction See all GeneRIFs (178)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (18) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gata1 (e-PCR), detects polymorphism
- UniSTS:265221

PMC133542P1 (e-PCR)
- UniSTS:270625

Gata1 (e-PCR), detects polymorphism
- UniSTS:534561

Gata1 (e-PCR), detects polymorphism
- UniSTS:534562

Gata1 (e-PCR), detects polymorphism
- UniSTS:506926

Gata1 (e-PCR), detects polymorphism
- UniSTS:143170

Gata1 (e-PCR), detects polymorphism
- UniSTS:143171

Gata1 (e-PCR), detects polymorphism
- UniSTS:143172

Gata1 (e-PCR), detects polymorphism
- UniSTS:143173

Gata1 (e-PCR), detects polymorphism
- UniSTS:143174

Gata1 (e-PCR), detects polymorphism
- UniSTS:265572

GDB:574073 (e-PCR)
- UniSTS:157796

PMC123124P1 (e-PCR)
- UniSTS:270437

Gata1 (e-PCR), detects polymorphism
- UniSTS:526970

NoName (e-PCR)
- UniSTS:237997

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables C2H2 zinc finger domain binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables chromatin DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ regeneration	ISO Inferred from Sequence Orthology more info
acts_upstream_of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell fate commitment	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell-cell signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to lipopolysaccharide	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dendritic cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eosinophil fate commitment	ISO Inferred from Sequence Orthology more info
involved_in erythrocyte development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within erythrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells within a tissue	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in male gonad development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within megakaryocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within megakaryocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within megakaryocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in megakaryocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of myeloid cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myeloid cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of myeloid cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription regulatory region DNA binding	ISO Inferred from Sequence Orthology more info
acts_upstream_of osteoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet aggregation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within platelet formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet formation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of erythrocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mast cell degranulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of osteoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within primitive erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of definitive erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of definitive erythrocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of glycoprotein biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of glycoprotein biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of primitive erythrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-DNA complex	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info
part_of transcription repressor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: erythroid transcription factor

Names: GATA-binding factor 1; NF-E1 DNA-binding protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001410603.1 → NP_001397532.1 erythroid transcription factor

Status: VALIDATED

Source sequence(s)

AL670169

UniProtKB/Swiss-Prot

P17679, Q3UIH9, Q7TMX8
NM_001410604.1 → NP_001397533.1 erythroid transcription factor

Status: VALIDATED

Source sequence(s)

AL670169

UniProtKB/Swiss-Prot

P17679, Q3UIH9, Q7TMX8
NM_008089.3 → NP_032115.1 erythroid transcription factor

See identical proteins and their annotated locations for NP_032115.1

Status: VALIDATED

Source sequence(s)

AL670169

Consensus CDS

CCDS29981.1

UniProtKB/Swiss-Prot

P17679, Q3UIH9, Q7TMX8

Related

ENSMUSP00000033502.8, ENSMUST00000033502.14

Conserved Domains (1) summary

cd00202
Location:203 → 249

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