Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2623
Gene name Gene Name - the full gene name approved by the HGNC.	GATA binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GATA1
Synonyms (NCBI Gene) Gene synonyms aliases	CNSHA9, ERYF1, GATA-1, GF-1, GF1, HAEADA, NF-E1, NFE1, XLANP, XLTDA, XLTT
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.23
Summary Summary of gene provided in NCBI Entrez 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 associat

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894808	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894809	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894815	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894816	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852312	GG>TC	Pathogenic	Coding sequence variant, missense variant
rs387907207	C>T	Pathogenic	Missense variant, coding sequence variant
rs398124627	->TACT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs398124628	->ACAGCCACCGCTGCAGCTGC	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs587776451	T>C	Pathogenic	Missense variant, intron variant, initiator codon variant
rs587776452	G>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs587776453	G>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs587776454	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587776455	G>T	Pathogenic	Missense variant, coding sequence variant
rs587776456	T>C	Likely-pathogenic, pathogenic	Stop lost, terminator codon variant
rs1557020001	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557020021	C>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1569499310	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569499366	G>C	Likely-pathogenic	Splice donor variant, intron variant
rs1602218917	->AGTT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602219139	->GCAGCTGCGGCACTGGCCTACT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602220307	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017923	hsa-miR-335-5p	Microarray	18185580
MIRT733501	hsa-miR-210-3p	Luciferase reporter assay, qRT-PCR, Western blotting	34109429
MIRT733501	hsa-miR-210-3p	Luciferase reporter assay, qRT-PCR, Western blotting	34109429
MIRT1012473	hsa-miR-1254	CLIP-seq
MIRT1012474	hsa-miR-3116	CLIP-seq
MIRT1012475	hsa-miR-323-5p	CLIP-seq
MIRT1012476	hsa-miR-342-5p	CLIP-seq
MIRT1012477	hsa-miR-4664-5p	CLIP-seq
MIRT1012478	hsa-miR-520d-5p	CLIP-seq
MIRT1012479	hsa-miR-524-5p	CLIP-seq
MIRT1012480	hsa-miR-550a	CLIP-seq
MIRT1012481	hsa-miR-661	CLIP-seq
MIRT1012482	hsa-miR-876-3p	CLIP-seq
MIRT1012483	hsa-miR-9	CLIP-seq

Transcription factors

Show/Hide all(13)

Transcription factor	Regulation	Reference
BCL11A	Activation	23071749
BCL11A	Unknown	20542454
CBFB	Unknown	8683991
CEBPE	Repression	12202480
FLI1	Activation	12724402
GATA1	Activation	16492768
GATA1	Unknown	17628529;20542454
GATA2	Activation	23071749
GATA2	Unknown	19279013
MYC	Repression	18838534
POU2F1	Unknown	7499351
SPI1	Activation	20304827
SPI1	Unknown	11001896

Show/Hide all(101)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	22235304
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	10700180
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	2467208
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	15920471, 24245781
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	20133935
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	12483298
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	15920471
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002039	Function	P53 binding	IEA
GO:0003677	Function	DNA binding	IDA	8628290, 11418466, 12609092, 22235304
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	2467208
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	11418466, 11675338, 17132730, 17167422, 19513100, 24245781, 24722188, 25416956, 25910212, 26019275, 27107012, 28514442, 32296183, 32814053, 32911434, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	2467208, 10700180, 17167422
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	15920471
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008584	Process	Male gonad development	IMP	10700180
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010559	Process	Regulation of glycoprotein biosynthetic process	IEA
GO:0010559	Process	Regulation of glycoprotein biosynthetic process	IMP	15701726
GO:0010724	Process	Regulation of definitive erythrocyte differentiation	IDA	12200364, 15920471
GO:0010724	Process	Regulation of definitive erythrocyte differentiation	IEA
GO:0010725	Process	Regulation of primitive erythrocyte differentiation	IEA
GO:0017053	Component	Transcription repressor complex	IDA	15920471
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IEP	7678994
GO:0030219	Process	Megakaryocyte differentiation	IEA
GO:0030219	Process	Megakaryocyte differentiation	IMP	10700180
GO:0030220	Process	Platelet formation	IEA
GO:0030220	Process	Platelet formation	IMP	10700180, 11675338, 12483298
GO:0030221	Process	Basophil differentiation	IEP	7678994
GO:0030222	Process	Eosinophil differentiation	IEP	8507862
GO:0030282	Process	Bone mineralization	IEA
GO:0030502	Process	Negative regulation of bone mineralization	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	22235304
GO:0032993	Component	Protein-DNA complex	IDA	12609092
GO:0033028	Process	Myeloid cell apoptotic process	IEA
GO:0033033	Process	Negative regulation of myeloid cell apoptotic process	IEA
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0035854	Process	Eosinophil fate commitment	IDA	12045236
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17167422
GO:0043306	Process	Positive regulation of mast cell degranulation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IMP	12200364
GO:0045165	Process	Cell fate commitment	IBA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IMP	17167422
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	24245781
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	2467208, 12200364, 15920471
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20133935
GO:0046872	Function	Metal ion binding	IEA
GO:0048468	Process	Cell development	IEA
GO:0048731	Process	System development	IEA
GO:0048821	Process	Erythrocyte development	IMP	10700180
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0060009	Process	Sertoli cell development	IEA
GO:0060319	Process	Primitive erythrocyte differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	11675338, 15920471
GO:0070527	Process	Platelet aggregation	IEA
GO:0070527	Process	Platelet aggregation	IMP	15701726
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	12483298
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IEA
GO:0097028	Process	Dendritic cell differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	17167422

MIM	HGNC	e!Ensembl
305371	4170	ENSG00000102145

Protein

UniProt ID

P15976

Protein name

Erythroid transcription factor (Eryf1) (GATA-binding factor 1) (GATA-1) (GF-1) (NF-E1 DNA-binding protein)

Protein function

Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of oth

PDB

6G0Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00320	GATA	204 → 238	GATA zinc finger	Domain
PF00320	GATA	258 → 292	GATA zinc finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Erythrocytes. {ECO:0000269|PubMed:8524811}.

Sequence

MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAAL
AYYRDAEAYRHSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQA
VEDLDGKGSTSFLETLKTERLSPDLLTLGPALPSSLPVPNSAYGGPDFSSTFFSPTGSPL
NSAAYSSPKLRGTLPLPPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQNRP
LIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCNACGLYYKLHQVNRPLTMRKD
GIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVASGLTLGPPGT
AHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMPPTTSTTVVAPLSS

Sequence length

413

Interactions

View interactions

	Reactome
			RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
thrombocytopenia	Thrombocytopenia	rs104894816, rs587776456	N/A
Thrombocytopenia, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	thrombocytopenia, x-linked, with or without dyserythropoietic anemia	rs104894809, rs587776453, rs387907207, rs587776451, rs104894815, rs587776452, rs104894816, rs587776456, rs137852312, rs104894808	N/A
Leukemia, Megakaryoblastic, Of Down Syndrome	LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC	rs398124627	N/A
Megakaryoblastic Leukemia In Down Syndrome	acute megakaryoblastic leukemia in down syndrome	rs1557020021	N/A
Megakaryocytic Leukemia	Acute megakaryoblastic leukemia	rs398124628	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anemia	Diamond-Blackfan anemia	N/A	N/A	GenCC
Macrothrombocytopenia	macrothrombocytopenia	N/A	N/A	ClinVar
Neutropenia	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	N/A	N/A	GenCC

Show/Hide Text Mining Associations (113)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abortion Spontaneous	Associate	20922527
Absent radii and thrombocytopenia	Associate	21304100
Adenocarcinoma of Lung	Associate	28566697
Adrenal Insufficiency	Associate	31413099
Adrenoleukodystrophy	Associate	22757654
Altitude Sickness	Stimulate	31617751
Anemia	Associate	11809723, 18930124, 20922527, 35030251, 36231035, 36291092, 38385251
Anemia Aplastic	Associate	17654061
Anemia Diamond Blackfan	Associate	22706300, 22706301, 24453067, 24735966, 24942156, 24952648, 25035146, 25682601, 26258650, 27044088, 28377399, 30700418, 34889440, 35328001
Anemia Dyserythropoietic Congenital	Associate	11418466, 11809723, 17538848, 26713410, 30914438, 36291092
Anemia Hemolytic	Associate	10700180, 19687298
Anemia Hemolytic Congenital	Associate	35030251
Anemia Sickle Cell	Associate	15145217
Arthritis Rheumatoid	Associate	29993142
Asthma	Associate	22246175
Asthma	Stimulate	31059917
Autoimmune Diseases	Associate	34462261
Bernard Soulier Syndrome	Associate	17538848, 18041654
Beta ketothiolase deficiency	Associate	24196768
beta Thalassemia	Associate	11809723, 12200364, 1309671, 17654503, 33054049
Blood Platelet Disorders	Associate	20922527, 36291092
Breast Neoplasms	Associate	21689417, 24434785
Brody myopathy	Associate	40323132
Carcinogenesis	Associate	19587786
Carcinoma Pancreatic Ductal	Associate	36102738
Carcinoma Squamous Cell	Associate	26297502
Cell Transformation Viral	Associate	29611379
Cholangiocarcinoma	Associate	33579226
Cognition Disorders	Associate	35436926
Cognitive Dysfunction	Associate	30914438
Colorectal Neoplasms	Associate	30658502
Congenital myasthenic syndrome ib	Associate	27821551
Craniofacial Abnormalities	Associate	35436926
Cyclic neutropenia	Associate	11809723
Cytokine Release Syndrome	Associate	29993142
Deafness X Linked 1	Associate	18041654
Delta Beta Thalassemia	Associate	7515719
delta Thalassemia	Associate	1309671, 1515647
Dengue	Associate	35771876
Dental Caries	Associate	24192446
Disease	Associate	27821551
Down Syndrome	Associate	12560215, 12586620, 12649131, 12816863, 14656875, 15686466, 16249385, 17157155, 17576817, 18689547, 19119459, 19633202, 20064153, 20729467, 22110660 View all (25 more)
Down Syndrome	Stimulate	16492768, 27134169
Down Syndrome	Inhibit	29481579
Drug Eruptions	Associate	19389530
Drug Hypersensitivity	Associate	34884493, 8400240
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	11809723, 32763160, 35328001, 36231035
Fetal Death	Associate	20922527
Fibrosis	Associate	29611379
Gestational Trophoblastic Disease	Associate	39632297
Gout	Associate	20922527
Gray Platelet Syndrome	Associate	17209061, 17538848
Hematologic Diseases	Associate	29954930
Hematologic Neoplasms	Associate	17654061, 26713410, 27134169, 31049966, 31413099
Hemoglobinopathies	Associate	21220744
Hemolysis	Associate	36231035
Hemorrhage	Associate	18041654, 18979367, 20922527, 36231035
Hypoxia	Associate	27821551
Hypoxia Brain	Stimulate	31617751
Ige Responsiveness Atopic	Associate	22246175
Immunologic Deficiency Syndromes	Associate	24782121
Intellectual Disability	Associate	35436926
Kidney Failure Chronic	Associate	30212930
Klippel Trenaunay Weber Syndrome	Associate	19556247
Leukemia	Associate	12576332, 19587786, 19633202, 19825991, 23380710, 23733339, 24021668, 27152438, 33929501, 35203280, 36485097
Leukemia Erythroblastic Acute	Associate	20495378, 27010793, 28340113, 33929501
Leukemia Megakaryoblastic Acute	Associate	12560215, 12586620, 12649131, 12816863, 14656875, 15180862, 15686466, 16249385, 16492768, 17576817, 18689547, 19119459, 19633202, 22110660, 22122069 View all (11 more)
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	15155749, 7795240
Leukemia Myeloid	Associate	20729467, 21715302, 24222239, 29481579, 31049966, 35203280, 35483876, 36447001, 36485097, 37895004, 7519472
Leukemia Myeloid Acute	Associate	12417757, 12560215, 18930124, 19097174, 23874683, 27010793, 28340113, 33929501, 7579412, 8874206
Leukocytosis	Associate	37489937
Macrothrombocytopenia X Linked	Associate	11418466, 11809723
Menkes Kinky Hair Syndrome	Associate	7703487
Musculoskeletal Abnormalities	Associate	20922527
Myelodysplastic Syndromes	Stimulate	17570514
Myelodysplastic Syndromes	Inhibit	22160620, 30825517
Myelodysplastic Syndromes	Associate	24782121, 29481579, 9057652
Myeloproliferative Disorders	Associate	14656875, 15686466, 18689547, 19389530, 20729467, 21715302, 27134169, 38066851
Myeloproliferative Syndrome Transient	Associate	12560215, 12586620, 12649131, 12816863, 14656875, 15180862, 15686466, 17576817, 18930124, 20064153, 20729467, 22296450, 23440243, 23733339, 24021668 View all (14 more)
Myopathies Structural Congenital	Associate	40696625
Nasopharyngeal Carcinoma	Associate	29747653
Neoplasm Metastasis	Associate	34183353, 35342335
Neoplasms	Associate	17157155, 28118844, 29611379, 29712898, 33579226
Neoplasms Plasma Cell	Associate	30825517
Neuhauser syndrome	Associate	36857629
Ovarian Neoplasms	Associate	34425872, 35488350
Pancreatic Neoplasms	Associate	36102738
Platelet Alpha Delta Storage Pool Deficiency	Associate	36231035
Platelet Storage Pool Deficiency	Associate	19172521
Polycythemia	Associate	27821551
Polycythemia Vera	Associate	16384930, 21355091, 23066032, 23720412
Porphyria Erythropoietic	Associate	11254675, 17148589, 17538848, 18930124
Porphyrias	Associate	17148589
Pre Eclampsia	Associate	21075447
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	14531904, 27022003, 9695959
Primary Myelofibrosis	Associate	16127162
Primary Myelofibrosis	Inhibit	29611379, 30889303
Protein Deficiency	Associate	35328001
Purpura Thrombocytopenic Idiopathic	Associate	40323132
Pyropoikilocytosis Hereditary	Associate	15456760
Severe Dengue	Associate	35771876
Spherocytosis Hereditary	Associate	15456760
Spherocytosis Type 1	Associate	36231035
Stomach Neoplasms	Associate	24338397
Thrombocythemia Essential	Stimulate	30889303
Thrombocytopenia	Associate	10700180, 17148589, 34390506, 35771876, 36231035, 36291092, 38103735, 38385251, 40323132, 7703487
Thrombocytopenia 1	Associate	11675338, 18930124, 36291092
Thrombocytopenia Platelet Dysfunction Hemolysis and Imbalanced Globin Synthesis	Associate	12200364, 17209061, 18930124, 25421114, 33054111
Thrombocytosis	Associate	23066032
Transient Myeloproliferative Disorder of Down Syndrome	Associate	23980066
Trisomy	Associate	33780474
VLCAD deficiency	Associate	25035146
X linked sideroblastic anemia	Associate	10700180

GATA1 (GATA binding protein 1)