GATA1
Erythroid transcription factor
Also known as: ERYF1, GATA-1, GATA1_HUMAN, GF1, NF-E1, NFE1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P15976
- Gene
- GATA1
- Ensembl
- ENSG00000102145
- Chromosome
- X
- Canonical length
- 413 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
413 residues, UniProt reviewed canonical sequence.
>P15976|GATA1
1 MEFPGLGSLG TSEPLPQFVD PALVSSTPES GVFFPSGPEG LDAAASSTAP STATAAAAAL
61 AYYRDAEAYR HSPVFQVYPL LNCMEGIPGG SPYAGWAYGK TGLYPASTVC PTREDSPPQA
121 VEDLDGKGST SFLETLKTER LSPDLLTLGP ALPSSLPVPN SAYGGPDFSS TFFSPTGSPL
181 NSAAYSSPKL RGTLPLPPCE ARECVNCGAT ATPLWRRDRT GHYLCNACGL YHKMNGQNRP
241 LIRPKKRLIV SKRAGTQCTN CQTTTTTLWR RNASGDPVCN ACGLYYKLHQ VNRPLTMRKD
301 GIQTRNRKAS GKGKKKRGSS LGGTGAAEGP AGGFMVVAGG SGSGNCGEVA SGLTLGPPGT
361 AHLYQGLGPV VLSGPVSHLM PFPGPLLGSP TGSFPTGPMP PTTSTTVVAP LSSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GATA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.66
- Highest tissue expression
- 56 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 56 nTPM
- lung: 2 nTPM
- spleen: 2 nTPM
- testis: 1.7 nTPM
- placenta: 0.9 nTPM
- duodenum: 0.5 nTPM
Single-cell type
- megakaryocytes: 315 nCPM
- platelets: 209 nCPM
- erythrocyte progenitors: 152 nCPM
- megakaryocyte progenitors: 83 nCPM
- megakaryocyte-erythroid progenitors: 81 nCPM
- late spermatids: 45 nCPM
Immune cell
- eosinophil: 463 nTPM
- basophil: 84 nTPM
- total PBMC: 4.3 nTPM
- neutrophil: 1.9 nTPM
- classical monocyte: 0.2 nTPM
- non-classical monocyte: 0.2 nTPM
Brain region
- white matter: 1.8 nTPM
- medulla oblongata: 1.2 nTPM
- basal ganglia: 1.1 nTPM
- midbrain: 1.1 nTPM
- pons: 1.1 nTPM
- spinal cord: 1.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GATA1.
Disease | AllUniProt
Conditions GATA1 is implicated in, by any mechanism.
- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) MIM:300367
- Thrombocytopenia with beta-thalassemia, X-linked (XLTT) MIM:314050
- Anemia without thrombocytopenia, X-linked (XLAWT) MIM:300835
- Anemia, congenital, non-spherocytic hemolytic, 9 (CNSHA9) MIM:301083
Disease | GeneticClinVar
78 pathogenic / likely-pathogenic of 430 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
- Diamond-Blackfan anemia
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- GATA1-related disorder
- X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.32
- gnomAD pLI
- 0.95
- gnomAD missense Z
- 1.14
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ regeneration
- basophil differentiation
- bone mineralization
- cell fate commitment
- cell-cell signaling
- cellular response to cAMP
- cellular response to follicle-stimulating hormone stimulus
- cellular response to lipopolysaccharide
- dendritic cell differentiation
- eosinophil differentiation
- eosinophil fate commitment
- erythrocyte development
- erythrocyte differentiation
- homeostasis of number of cells within a tissue
- in utero embryonic development
- male gonad development
- megakaryocyte differentiation
- myeloid cell apoptotic process
- negative regulation of apoptotic process
- negative regulation of bone mineralization
- negative regulation of cell population proliferation
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- negative regulation of myeloid cell apoptotic process
- negative regulation of transcription by RNA polymerase II
- osteoblast proliferation
- platelet aggregation
- platelet formation
- positive regulation of cytosolic calcium ion concentration
- positive regulation of DNA-templated transcription
- positive regulation of erythrocyte differentiation
- positive regulation of mast cell degranulation
- positive regulation of osteoblast proliferation
- positive regulation of transcription by RNA polymerase II
- primitive erythrocyte differentiation
- regulation of definitive erythrocyte differentiation
- regulation of glycoprotein biosynthetic process
- regulation of primitive erythrocyte differentiation
- Sertoli cell development
- transcription by RNA polymerase II
Molecular functions
- C2H2 zinc finger domain binding
- chromatin DNA binding
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- p53 binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
- transcription coactivator binding
- transcription coregulator binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GATA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GATA1 as an antibody target. Whether an autoantibody or antibody against GATA1 could matter depends on whether native GATA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GATA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GATA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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