GATA1 - GATA binding protein 1 Gene

Also Known as GF1; GF-1; NFE1; XLTT; ERYF1; NF-E1; XLANP; XLTDA; GATA-1; HAEADA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2623

About GATA1

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,786,590-48,794,311 (from NCBI)

This gene has 6 transcripts (splice variants), 224 orthologues, 7 paralogues and is associated with 82 phenotypes. Biased expression in bone marrow (RPKM 18.9) and placenta (RPKM 0.5).

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]

GATA1 Products (1)

mRNA	Protein	Name
NM_002049.4	NP_002040.1	erythroid transcription factor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables C2H2 zinc finger domain binding	IPI IPI: Inferred from physical interaction	12483298	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	8628290	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15920471	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	2467208	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	15920471	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	20133935	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	2467208	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	11675338	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	22235304	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11418466	GOA
enables sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	12200364	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IMP IMP: Inferred from mutant phenotype	10700180	GOA
enables transcription coregulator binding	IPI IPI: Inferred from physical interaction	12483298	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in basophil differentiation	IEP IEP: Inferred from expression pattern	7678994	GOA
involved in eosinophil differentiation	IEP IEP: Inferred from expression pattern	8507862	GOA
involved in eosinophil fate commitment	IDA IDA: Inferred from direct assay	12045236	GOA
involved in erythrocyte development	IMP IMP: Inferred from mutant phenotype	10700180	GOA
involved in erythrocyte differentiation	IEP IEP: Inferred from expression pattern	7678994	GOA
involved in male gonad development	IMP IMP: Inferred from mutant phenotype	10700180	GOA
involved in megakaryocyte differentiation	IMP IMP: Inferred from mutant phenotype	10700180	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17167422	GOA
involved in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP IMP: Inferred from mutant phenotype	17167422	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22235304	GOA
involved in negative regulation of transcription regulatory region DNA binding	IDA IDA: Inferred from direct assay	15920471	GOA
involved in platelet aggregation	IMP IMP: Inferred from mutant phenotype	15701726	GOA
involved in platelet formation	IMP IMP: Inferred from mutant phenotype	10700180	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	24245781	GOA
involved in positive regulation of erythrocyte differentiation	IMP IMP: Inferred from mutant phenotype	17167422	GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation	IMP IMP: Inferred from mutant phenotype	15701726	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	2467208	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20133935	GOA
involved in regulation of definitive erythrocyte differentiation	IDA IDA: Inferred from direct assay	12200364	GOA
involved in regulation of glycoprotein biosynthetic process	IMP IMP: Inferred from mutant phenotype	15701726	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	2467208	GOA
part of protein-DNA complex	IDA IDA: Inferred from direct assay	12609092	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	15920471	GOA
part of transcription repressor complex	IDA IDA: Inferred from direct assay	15920471	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GATA1 Protein Structure

GATA

0
100
200
300
413 a.a.

Protein Preferred Names	Protein Names
erythroid transcription factor	GATA-binding factor 1

GATA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GATA1	P15976	KRTAP10-5	Homo sapiens	P60370	Validated Y2H	25416956
Intra	GATA1	P15976	FBF1	Homo sapiens	Q8TES7-6	Y2H Prey Pooling	25416956
Intra	GATA1	P15976	PRKAB2	Homo sapiens	O43741	Y2H Prey Pooling	25416956
Intra	GATA1	P15976	PRKAB2	Homo sapiens	O43741	Validated Y2H	25416956
Intra	GATA1	P15976	PRKAB2	Homo sapiens	O43741	Y2H Array	25416956
Intra	GATA1	P15976	CCDC24	Homo sapiens	Q8N4L8	Validated Y2H	25416956
Intra	GATA1	P15976	CCDC24	Homo sapiens	Q8N4L8	Y2H Array	25416956
Intra	GATA1	P15976	ZFPM1	Homo sapiens	Q8IX07	Anti Bait CoIP	19513100
Intra	GATA1	P15976	MED1	Homo sapiens	Q15648	Pull Down	17132730
Intra	GATA1	P15976	RB1	Homo sapiens	P06400	Anti Bait CoIP	19513100
Intra	GATA1	P15976	HEXIM2	Homo sapiens	Q96MH2	Y2H Prey Pooling	25416956
Intra	GATA1	P15976	HEXIM2	Homo sapiens	Q96MH2	Y2H Array	25416956
Intra	GATA1	P15976	HSPA1A	Homo sapiens	P08107	Confocal	17167422
Intra	GATA1	P15976	HSPA1A	Homo sapiens	P08107	Anti Bait CoIP	17167422
Intra	GATA1	P15976	FRS3	Homo sapiens	O43559	Y2H Array	25416956
Intra	GATA1	P15976	FRS3	Homo sapiens	O43559	Validated Y2H	25416956
Intra	GATA1	P15976	HOXA1	Homo sapiens	P49639	Y2H Array	25416956
Intra	GATA1	P15976	RADIL	Homo sapiens	Q96JH8	Validated Y2H	25416956
Intra	GATA1	P15976	RADIL	Homo sapiens	Q96JH8	Y2H Array	25416956
Cross	GATA1	P15976	Rb1	Mus musculus	P13405	Anti Bait CoIP	19513100

Cross: Cross-species interaction Intra: Intraspecies interaction

GATA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81842	GATA1 Antibody (YA1587)	WB, IHC-P, ICC/IF, IP	Human
HY-P81842A	GATA1 Antibody (YA1587)(PBS only)	WB, IHC-P, ICC/IF, IP	Human
HY-P84121	GATA1 Antibody (YA3818)	WB, IHC-P, ICC/IF, ELISA	Human
HY-P84121A	GATA1 Antibody (YA3818)(PBS only)	WB, IHC-P, ICC/IF, ELISA	Human
HY-P85179	GATA1 Antibody (YA4871)	WB, IHC-P, ICC/IF, ELISA	Human

Related Diseases

Diseases	Alias
Thrombocytopenia With Beta-Thalassemia, X-Linked	XLTT Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome Gata1-Related X-Linked Cytopenia X-Linked Thrombocytopenia With Beta-Thalassemia Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	XDAT XLTDA Thrombocytopenia With Congenital Dyserythropoietic Anemia Congenital Dyserythropoietic Anemia With Thombocytopenia X-Linked Congenital Dyserythropoietic Anemia With Thrombocytopenia X-Linked Dyserythropoietic Anemia And Thrombocytopenia Thrombocytopenia, X-Linked, With Dyserythropoietic Anemia Thrombocytopenia, X-Linked, Without Dyserythropoietic Anemia
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	X-Linked Dyserythropoietic Anemia X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia XLANP Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities Anemia Without Thrombocytopenia, X-Linked XLAWT Anemia X-Linked With Variable Neutropenia
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	HAEADA Erythrocyte Ada, Elevated, Hemolytic Anemia Due To Hemolytic Anemia Due To Elevated Adenosine Deaminase
Myeloproliferative Syndrome, Transient	Transient Abnormal Myelopoiesis Transient Myeloproliferative Syndrome Transient Myeloproliferative Disease Mst Tam Leukemia, Transient, Of Down Syndrome Tmd Leukemia, Transient Transient Leukemia Transient Leukemia Of Down Syndrome
Acute Megakaryoblastic Leukemia In Down Syndrome	Ds-Amkl
Hemolytic Anemia Due To Erythrocyte Adenosine Deaminase Overproduction
Acute Megakaryocytic Leukemia	Acute Megakaryoblastic Leukemia Acute Megakaryoblastic Leukaemia Megakaryocytic Myelosis Thrombocytic Leukaemia Amkl Aml M7 Acute Myeloblastic Leukemia Type 7 Acute Myeloid Leukemia M7 Megakaryoblastic Leukemia Acute Leukemia, Megakaryoblastic, Acute Acute Myeloid Leukaemia, M7 Acute Megakaryocytic Leukaemia Acute Megakaryoblastic Leukaemia, Fab M7 Fab M7 Malignant Megakaryocytosis M7 - Acute Megakaryoblastic Leukaemia Megakaryoblastic Leukaemia Megakaryocytic Leukaemia Acute Megakaryoblastic Leukaemia, Nos Acute Megakaryoblastic Leukaemia Without Mention Of Remission
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Acute Basophilic Leukemia
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Porphyria, Congenital Erythropoietic	Congenital Erythropoietic Porphyria Gunther Disease CEP Uros Deficiency Günther Disease Uroporphyrinogen Iii Synthase Deficiency Congenital Porphyria Uroporphyrinogen Iii Synthase, Deficiency Of Porphyria, Erythropoietic, Congenital Porphyria, Erythropoietic Deficiency Of Uroporphyrinogen Iii Synthase
Diamond-Blackfan Anemia 1	Aase Syndrome DBA1 Erythrogenesis Imperfecta Aase-Smith Syndrome Ii Dba Blackfan-Diamond Syndrome Bds Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Anemia, Congenital Erythroid Hypoplastic Red Cell Aplasia, Pure, Hereditary Aregenerative Anemia, Chronic Congenital Rps19-Related Diamond-Blackfan Anemia Chronic Congenital Aregenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Pure Hereditary Red Cell Aplasia Anemia, Diamond-Blackfan, Type 1 Anemia, Diamond-Blackfan Aase Smith Syndrome 2 Familial Hypoplastic Anaemia With Malformations Constitutional Pure Red Cell Aplasia
Dyserythropoietic Anemia And Thrombocytopenia	Dyserythropoietic Anemia With Thrombocytopenia Gata-1-Related Thrombocytopenia With Dyserythropoiesis Gata1-Related Cytopenia Gata1-Related X-Linked Cytopenia X-Linked Macrothrombocytopenia Macrothrombocytopenia, X-Linked
Erythroleukemia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
Thalassemia Minor
Myeloid Leukemia Associated With Down Syndrome
Myelofibrosis	Primary Myelofibrosis Agnogenic Myeloid Metaplasia Idiopathic Myelofibrosis Myeloid Metaplasia Myelofibrosis With Myeloid Metaplasia Osteomyelofibrosis Megakaryocytic Myelosclerosis Myelosclerosis Chronic Idiopathic Myelofibrosis Myelofibrosis, Idiopathic Myelofibrosis With Myeloid Metaplasia, Somatic Myelofibrosis, Somatic Aleukemic Myelosis Bone Marrow Fibrosis MYELOF MMM Agnogenic Myeloid Metaplasia With Myelofibrosis Ammm Myelosclerosis With Myeloid Metaplasia Myelofibrosis Nos
Congenital Dyserythropoietic Anemia	Congenital Dyshaematopoietic Anaemia Dyserythropoietic Anemia, Congenital Cda Anemia, Dyserythropoietic, Congenital Anemia Dyserythropoietic Congenital Cda - [Congenital Dyserythropoietic Anaemia] Dyserythropoietic Dyshaematopoietic Congenital Anaemia Dyshaematopoietic Anaemia Dyserythropoietic Anaemia
Gray Platelet Syndrome	Platelet Alpha-Granule Deficiency GPS Bdplt4 Bleeding Disorder, Platelet-Type, 4 Grey Platelet Syndrome Platelet-Type Bleeding Disorder 4 Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins Deficient Alpha Granule Syndrome Platelet Alpha Granule Deficiency Platelet Granule Defect Alpha Storage Pool Deficiency Bleeding Disorder Platelet-Type 4
Neonatal Leukemia
Thrombocytopenia 1	Xlt THC1 Thrombocytopenia, X-Linked Thrombocytopenia, X-Linked, Intermittent X-Linked Thrombocytopenia X-Linked Thrombocytopenia With Normal Platelets Thc Thrombocytopenia, X-Linked, 1 Thrombocytopenia X-Linked Thrombocytopenia X-Linked 1
Porphyria	Hematoporphyria Porphyrias Disorder Of Porphyrin And Hem Metabolism Disorder Of Porphyrin Metabolism Porphyrinopathy Porphyrin Disorder Disorder Of Porphyrin And Heme Metabolism Disorders Of Porphyrin Metabolism
Anemia, Congenital Dyserythropoietic, Type Ia	Congenital Dyserythropoietic Anemia Type I Cda I CDAN1A Congenital Dyserythropoietic Anemia Type 1 Congenital Dyserythropoietic Anemia Type Ia Congenital Dyserythropoietic Anemia, Type I Anemia, Congenital Dyserythropoietic, Type I Cda Type 1 Cda Type I Cda Ia Dyserythropoietic Anemia, Congenital Type 1 Anemia, Congenital Dyserythropoietic, Type 1a Dyserythropoietic Anemia, Congenital, Type Ia Cda, Type Ia Congenital Dyserythropoietic Anaemia Type 1 Congenital Dyserythropoietic Anaemia Type I Anemia, Dyserythropoietic, Congenital Type 1 Type I Congenital Dyserythropoietic Anemia Anemia, Congenital Dyserythropoietic, 1a Anemia, Dyserythropoietic, Congenital, Type Ia
Acute Erythroid Leukemia	Acute Erythroleukemia Di Guglielmo'S Syndrome Aml M6 Acute Myeloid Leukemia Fab-M6 Acute Myeloid Leukemia M6 Erythroleukemia Aml-M6 Acute Erythroleukemia M6a Subtype Acute Erythroleukemia M6b Subtype Di Guglielmo Syndrome Acute Myeloid Leukemia, M6 Type Acute Erythroblastic Leukemia Acute Erythroleukemia - M6a Subtype Acute Erythroleukemia - M6b Subtype Acute Erythraemia And Erythroleukaemia Acute Erythroid Leukaemia Without Mention Of Remission Erythraemia Erythraemic Myelosis Erythroleukaemia Acute Erythraemic Myelosis Acute Erythraemia
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Essential Thrombocythemia	Essential Thrombocytosis Familial Thrombocytosis Hemorrhagic Thrombocythemia Hereditary Thrombocythemia Primary Thrombocytosis Idiopathic Thrombocythemia Primary Thrombocythemia Thrombocythemia, Essential Essential Thrombocythaemia Et Familial Thrombocythemia Thrombocythemia Essential
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Cutaneous Porphyria	Porphyria, Erythropoietic Erythropoietic Porphyria
Anemia, Congenital Dyserythropoietic, Type Iv	CDAN4 Congenital Dyserythropoietic Anemia Type Iv Congenital Dyserythropoietic Anemia Type 4 Cda Iv Cda Due To Klf1 Mutation Cda Type 4 Cda Type Iv Congenital Dyserythropoietic Anemia Due To Klf1 Mutation Cda, Type Iv Dyserythropoietic Anemia, Congenital, Type Iv Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation Congenital Dyserythropoietic Anaemia Type 4 Congenital Dyserythropoietic Anaemia Type Iv Anemia, Congenital Dyserythropoietic, 4 Anemia, Dyserythropoietic Congenital, Type Iv Anemia, Dyserythropoietic, Congenital, Type Iv
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Childhood Acute Megakaryoblastic Leukemia	Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia
Alzheimer Disease 19	AD19 Alzheimer'S Disease 19 Alzheimer Disease 19, Late-Onset Alzheimer Disease 19 Late Onset Late-Onset Alzheimer Disease Alzheimer Disease, Late Onset, Susceptibility To, Type 19 Alzheimer Disease, Late Onset
Polycythemia	Erythrocythemia Polycythemia Vera Polycythaemia Due To High Altitude
Chromosomal Duplication Syndrome
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital Dyserythropoietic Anemia, Type Iii Cdan3 Congenital Dyserythropoietic Anemia Type Iii Cda Iii Congenital Dyserythropoietic Anemia Type 3 CDAN3A Dyserythropoietic Anemia, Congenital, Type Iiia Cda, Type Iiia Anemia, Congenital Dyserythropoietic, Type Iii Anemia With Multinucleated Erythroblasts Cda Type 3 Cda Type Iii Dyserythropoietic Anemia, Congenital Type 3 Cda, Type Iii Erythroreticulosis, Hereditary Benign Anaemia With Multinucleated Erythroblasts Congenital Dyserythropoietic Anaemia Type 3 Congenital Dyserythropoietic Anaemia Type Iii Hereditary Benign Erythroreticulosis Anemia, Congenital Dyserythropoietic, 3a Anemia With Multinucleated Erythroblasts Erythroreticulosis, Hereditary Benign
Pseudo-Von Willebrand Disease	Bdplt3 Von Willebrand Disease, Platelet-Type VWDP Platelet-Type Bleeding Disorder 3 Platelet Type-Von Willebrand Disease Pt-Vwd Von Willebrand Disease Platelet-Type Von Willebrand Disease, Platelet Type Pseudo Von Willebrand Disease Bleeding Disorder, Platelet-Type, 3 Pseudo-Von Willebrand Disease Type 2b Bleeding Disorder Platelet-Type 3 Pseudo-Vwd
Immunodeficiency 21	Monocytopenia And Mycobacterial Infection Syndrome Monomac Gata2 Deficiency Monocytopenia With Susceptibility To Infections Dcml IMD21 Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections Monocyte - B - Natural Killer - Dendritic Cell Deficiency Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
Amegakaryocytic Thrombocytopenia, Congenital	Congenital Amegakaryocytic Thrombocytopenia CAMT Thrombocytopenia, Congenital Amegakaryocytic Congenital Amegakaryocytic Thrombocytopenic Purpura Thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia, Amegakaryocytic, Congenital
Plasmodium Vivax Malaria	Malaria, Vivax Malaria By Plasmodium Vivax Vivax Malaria Malaria Vivax
Anemia, Congenital Dyserythropoietic, Type Ib	CDAN1B Congenital Dyserythropoietic Anemia Type Ib Cda, Type Ib Congenital Dyserythropoietic Anemia Type Type 1b Dyserythropoietic Anemia, Congenital, Type Ib Anemia, Congenital Dyserythropoietic, 1b Cda Ib Anemia, Dyserythropoietic, Congenital Anemia, Dyserythropoietic, Congenital, Type Ib
Porphyria Cutanea Tarda	Hepatoerythropoietic Porphyria HEP Uroporphyrinogen Decarboxylase Deficiency Pct Pct, Type Ii Porphyria, Hepatocutaneous Type Urod Deficiency Porphyria, Hepatoerythropoietic Porphyria Cutanea Tarda, Susceptibility To Familial Porphyria Cutanea Tarda Porphyria Cutanea Tarda, Type Ii Pct, 'Familial' Type Porphyria, Hepatic FPCT Pct Type Ii Porphyria Cutanea Tarda Type Ii Porphyria Hepatocutaneous Type Heterozygous Uroporphyrinogen Decarboxylase Deficiency Urod - [Uroporphyrinogen Decarboxylase] Deficiency Pct - [Porphyria Cutanea Tarda]
Anemia, Congenital Dyserythropoietic, Type Ii	Congenital Dyserythropoietic Anemia Type Ii CDAN2 Cda Ii Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test Cda Type Ii Congenital Dyserythropoietic Anemia Type 2 Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test Sec23b-Cdg Congenital Dyserythropoietic Anemia, Type Ii Dyserythropoietic Anemia, Hempas Type Hempas Cda Type 2 Dyserythropoietic Anemia, Congenital, Type Ii Cda, Type Ii Congenital Dyserythropoietic Anaemia Type 2 Congenital Dyserythropoietic Anaemia Type Ii Anemia, Dyserythropoietic, Congenital Type 2 Hempas Anemia Dyserythropoietic Anemia, Congenital Type 2 Anemia, Congenital Dyserythropoietic, 2 Dyserythropoietic Anemia Hempas Type Anemia, Dyserythropoietic Congenital, Type Ii Anemia, Dyserythropoietic, Congenital, Type Ii
Diamond-Blackfan Anemia 11	DBA11 Rpl26-Related Diamond-Blackfan Anemia Anemia, Diamond-Blackfan, Type 11
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Alpha-Thalassemia Myelodysplasia Syndrome	ATMDS Acquired Hemoglobin H Disease Alpha-Thalassemia Myelodysplasia Syndrome, Somatic Acquired Hbh Disease Alpha-Thalassemia-Myelodysplastic Syndrome Hemoglobin H Disease, Acquired Acquired Alpha-Thalassemia With Myelodysplastic Syndrome Hemoglobin H Disease Acquired Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Hemoglobinopathy	Hemoglobinopathies
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
Childhood Leukemia
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Bernard-Soulier Syndrome	Giant Platelet Syndrome BSS Von Willebrand Factor Receptor Deficiency Bdplt1 Platelet Glycoprotein Ib Deficiency Bernard-Soulier Syndrome, Type A1 Bernard-Soulier Syndrome, Type B Bernard Soulier Syndrome Deficiency Of Platelet Glycoprotein 1b Hemorrhagiparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type C Bleeding Disorder, Platelet-Type, 1 Glycoprotein Ib, Platelet, Deficiency Of Giant Platelet Disorder, Isolated Giant Platelet Disease Macrothrombocytopenia, Familial Bernard-Soulier Type Bernard-Soulier Syndrome, Type C Bernard - Soulier Thrombopathy Hemorrhagic Dystrophic Thrombocytopenia Thrombopathy, Bernard-Soulier Platelet Glycoprotein 1b, Deficiency Of Hemorrhagioparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type A1 Bernard-Soulier Syndrome Type B Bleeding Disorder Platelet-Type 1 Gpd Macrothrombocytopenia, Familial, Bernard-Soulier Type
Blood Platelet Disease	Platelet Disorder Blood Platelet Disorders Thrombocytopathy Platelet Dysfunction Platelet Disorders Qualitative Platelet Deficiency
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P3761	Ac-Tyr-Val-Lys-Asp-aldehyde	Inhibitor	99.89%	Unkown
HY-RS05289	GATA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174677	Human GATA1 mRNA		/	Unkown
HY-RS20026	Gata1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26529	Gata1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GATA1	VGNC	VGNC:72887
Mus musculus	GATA1	MGD	MGI:95661
Felis catus	GATA1	VGNC	VGNC:62473
Bos taurus	GATA1	VGNC	VGNC:29265
Rattus norvegicus	GATA1	RGD	RGD:2663
Others	GATA1	NCBI