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

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; AllianceGenome:HGNC:4170
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; CNSHA9; GATA-1; HAEADA
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: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (48786590..48794311)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48197083..48204804)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (48644998..48652718)

Chromosome X - NC_000023.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
Title: GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation.
Title: An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation.
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Title: Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
ARHGAP18 is Upregulated by Transcription Factor GATA1 Promotes the Proliferation and Invasion in Hepatocellular Carcinoma.
Title: ARHGAP18 is Upregulated by Transcription Factor GATA1 Promotes the Proliferation and Invasion in Hepatocellular Carcinoma.
miR-1202 acts as anti-oncomiR in myeloid leukaemia by down-modulating GATA-1S expression.
Title: miR-1202 acts as anti-oncomiR in myeloid leukaemia by down-modulating GATA-1(S) expression.
A novel GATA1 variant p.G229D causing the defect of procoagulant platelet formation.
Title: A novel GATA1 variant p.G229D causing the defect of procoagulant platelet formation.
Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis.
Title: Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis.
GATA-1 Promotes Erythroid Differentiation Through the Upregulation of miR-451a and miR-210-3p Expressions in CD34[+] Cells in High-Altitude Polycythemia.
Title: GATA-1 Promotes Erythroid Differentiation Through the Upregulation of miR-451a and miR-210-3p Expressions in CD34(+) Cells in High-Altitude Polycythemia.
Multidimensional profiling reveals GATA1-modulated stage-specific chromatin states and functional associations during human erythropoiesis.
Title: Multidimensional profiling reveals GATA1-modulated stage-specific chromatin states and functional associations during human erythropoiesis.
Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.
Title: Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.

Submit: New GeneRIF Correction See all GeneRIFs (257)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Beta-thalassemia-X-linked thrombocytopenia syndrome MedGen: C1839161 OMIM: 314050 GeneReviews: GATA1-Related Cytopenia	not available
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis MedGen: C1845837 GeneReviews: GATA1-Related Cytopenia	not available
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction MedGen: C1863235 OMIM: 301083 GeneReviews: Not available	not available
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia MedGen: C3550789 OMIM: 300367 GeneReviews: GATA1-Related Cytopenia	not available
Transient myeloproliferative syndrome MedGen: C1834582 OMIM: 159595 GeneReviews: Not available	not available
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MedGen: C3550856 OMIM: 300835 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2020-10-14) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2020-10-14) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X17254 (e-PCR)
- UniSTS:49170

PMC20354P2 (e-PCR)
- UniSTS:271935

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

GATA1_1983 (e-PCR)
- UniSTS:280690

GDB:192497 (e-PCR)
- UniSTS:98983

DXS9855 (e-PCR)
- UniSTS:474280

RH47645 (e-PCR)
- UniSTS:9134

Gene Ontology Provided by GOA

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

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

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement 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
part_of protein-DNA complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription repressor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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.

Genomic

NG_008846.2 RefSeqGene

Range

5001..12738

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_559

mRNA and Protein(s)

NM_002049.4 → NP_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, Q96GB8

UniProtKB/TrEMBL

A0A8Q3SIN3

Related

ENSP00000365858.3, ENST00000376670.9

Conserved Domains (2) summary

smart00401
Location:202 → 247

ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]

cd00202
Location:203 → 247

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