• Gene id: 2623

Gene Summary

• Gene Symbol: GATA1   Gene   UCSC   Ensembl
• Aliases: ERYF1, GATA-1, GF-1, GF1, NF-E1, NFE1, XLANP, XLTDA, XLTT
• Gene name: GATA binding protein 1
• Alternate names: erythroid transcription factor, GATA-binding factor 1, NF-E1 DNA-binding protein, erythroid transcription factor 1, globin transcription factor 1, nuclear factor, erythroid 1, transcription factor GATA1,
• Gene location: Xp11.23 (48786539: 48794310)     Exons: 6     NC_000023.11
• Gene summary(Entrez): 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 associat
• OMIM: 305371

Protein Summary

• Protein general information: P15976  
  • Name: Erythroid transcription factor (Eryf1) (GATA binding factor 1) (GATA 1) (GF 1) (NF E1 DNA binding protein)
  • Length: 413  
  • Mass: 42751
  • Tissue specificity: Erythrocytes. {ECO
• Sequence:

  MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAALAYYRDAEAYRHSPVF
  QVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQAVEDLDGKGSTSFLETLKTERLSPDLLTLGP
  ALPSSLPVPNSAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRGTLPLPPCEARECVNCGATATPLWRRDRTGHYLC
  NACGLYHKMNGQNRPLIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCNACGLYYKLHQVNRPLTMRKD
  GIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVASGLTLGPPGTAHLYQGLGPVVLSGP
  VSHLMPFPGPLLGSPTGSFPTGPMPPTTSTTVVAPLSS

• Structural information:
  • Interpro: IPR029524  IPR039355  IPR000679  IPR013088  
  • Prosite: PS00344 PS50114
  • CDD: cd00202
  • PDB: 6G0Q
  • PDBsum: 6G0Q
  • DIP: 41431
  • STRING: ENSP00000365858
• Other Databases: GeneCards:  GATA1  Malacards:  GATA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045165	cell fate commitment	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0030219	megakaryocyte differentiation	IEA	biological process
GO:0030221	basophil differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0048821	erythrocyte development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030222	eosinophil differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0045652	regulation of megakaryocyte differentiation	TAS	biological process
GO:1902036	regulation of hematopoietic stem cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071733	transcriptional activation by promoter-enhancer looping	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0033690	positive regulation of osteoblast proliferation	IEA	biological process
GO:0030502	negative regulation of bone mineralization	IEA	biological process
GO:0030220	platelet formation	IEA	biological process
GO:0030219	megakaryocyte differentiation	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0030099	myeloid cell differentiation	IEA	biological process
GO:0010725	regulation of primitive erythrocyte differentiation	IEA	biological process
GO:0010724	regulation of definitive erythrocyte differentiation	IEA	biological process
GO:0010559	regulation of glycoprotein biosynthetic process	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0002039	p53 binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0097028	dendritic cell differentiation	IEA	biological process
GO:0070527	platelet aggregation	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070742	C2H2 zinc finger domain binding	IPI	molecular function
GO:0010724	regulation of definitive erythrocyte differentiation	IDA	biological process
GO:0010724	regulation of definitive erythrocyte differentiation	IDA	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	IDA	biological process
GO:0010559	regulation of glycoprotein biosynthetic process	IMP	biological process
GO:0030218	erythrocyte differentiation	IEP	biological process
GO:0030219	megakaryocyte differentiation	IMP	biological process
GO:0030220	platelet formation	IMP	biological process
GO:0030220	platelet formation	IMP	biological process
GO:0030220	platelet formation	IMP	biological process
GO:0030221	basophil differentiation	IEP	biological process
GO:0048821	erythrocyte development	IMP	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP	biological process
GO:0071733	transcriptional activation by promoter-enhancer looping	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0035854	eosinophil fate commitment	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0030222	eosinophil differentiation	IEP	biological process
GO:0070527	platelet aggregation	IMP	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0097067	cellular response to thyroid hormone stimulus	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0045648	positive regulation of erythrocyte differentiation	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cancer (pancreatic)	GAD: 19351817
Down syndrome	GAD: 17576817
Thrombocytopenia	KEGG: H00978
Lymphoproliferative disorders	GAD: 15136229
Alzheimer's disease	GAD: 19204726
Spermatogenic cycle-specific regulator of gene expression in Sertoli cells	MIK: 7924983
Myelopathy	GAD: 12816863
Macrothrombocytopenia	KEGG: H01740
Macrothrombocytopenia	KEGG:H01740
Thrombocytopenia	KEGG:H00978
Macrothrombocytopenia	KEGG:H01740
Thrombocytopenia	KEGG:H00978
Myelodysplastic syndrome	PMID:17570514
Myeloproliferative syndrome	PMID:14636651
Beta thalassemia	PMID:16696909
Major depressive disorder	PMID:22885997
Myelofibrosis	PMID:16127162
acute myeloid leukemia	PMID:7579412
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)