Details for: GATA1

Gene ID: 2623

Symbol: GATA1

Ensembl ID: ENSG00000102145

Description: GATA binding protein 1

Associated with

  • Factors involved in megakaryocyte development and platelet production
    (R-HSA-983231)
  • Gene expression (transcription)
    (R-HSA-74160)
  • Generic transcription pathway
    (R-HSA-212436)
  • Hemostasis
    (R-HSA-109582)
  • Rna polymerase ii transcription
    (R-HSA-73857)
  • Runx1 regulates genes involved in megakaryocyte differentiation and platelet function
    (R-HSA-8936459)
  • Runx1 regulates transcription of genes involved in differentiation of hscs
    (R-HSA-8939236)
  • Transcriptional regulation by runx1
    (R-HSA-8878171)
  • Animal organ regeneration
    (GO:0031100)
  • Basophil differentiation
    (GO:0030221)
  • Bone mineralization
    (GO:0030282)
  • C2h2 zinc finger domain binding
    (GO:0070742)
  • Cell-cell signaling
    (GO:0007267)
  • Cell fate commitment
    (GO:0045165)
  • Cellular response to camp
    (GO:0071320)
  • Cellular response to follicle-stimulating hormone stimulus
    (GO:0071372)
  • Cellular response to lipopolysaccharide
    (GO:0071222)
  • Chromatin
    (GO:0000785)
  • Chromatin dna binding
    (GO:0031490)
  • Dendritic cell differentiation
    (GO:0097028)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna binding
    (GO:0003677)
  • Eosinophil differentiation
    (GO:0030222)
  • Eosinophil fate commitment
    (GO:0035854)
  • Erythrocyte development
    (GO:0048821)
  • Erythrocyte differentiation
    (GO:0030218)
  • Homeostasis of number of cells within a tissue
    (GO:0048873)
  • In utero embryonic development
    (GO:0001701)
  • Male gonad development
    (GO:0008584)
  • Megakaryocyte differentiation
    (GO:0030219)
  • Myeloid cell apoptotic process
    (GO:0033028)
  • Negative regulation of apoptotic process
    (GO:0043066)
  • Negative regulation of bone mineralization
    (GO:0030502)
  • Negative regulation of cell population proliferation
    (GO:0008285)
  • Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
    (GO:2001240)
  • Negative regulation of myeloid cell apoptotic process
    (GO:0033033)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Negative regulation of transcription regulatory region dna binding
    (GO:2000678)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Osteoblast proliferation
    (GO:0033687)
  • P53 binding
    (GO:0002039)
  • Platelet aggregation
    (GO:0070527)
  • Platelet formation
    (GO:0030220)
  • Positive regulation of cytosolic calcium ion concentration
    (GO:0007204)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of erythrocyte differentiation
    (GO:0045648)
  • Positive regulation of mast cell degranulation
    (GO:0043306)
  • Positive regulation of osteoblast proliferation
    (GO:0033690)
  • Positive regulation of peptidyl-tyrosine phosphorylation
    (GO:0050731)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Primitive erythrocyte differentiation
    (GO:0060319)
  • Protein-dna complex
    (GO:0032993)
  • Protein binding
    (GO:0005515)
  • Regulation of definitive erythrocyte differentiation
    (GO:0010724)
  • Regulation of glycoprotein biosynthetic process
    (GO:0010559)
  • Regulation of primitive erythrocyte differentiation
    (GO:0010725)
  • Rna polymerase ii-specific dna-binding transcription factor binding
    (GO:0061629)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific dna binding
    (GO:0043565)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Sertoli cell development
    (GO:0060009)
  • Transcription by rna polymerase ii
    (GO:0006366)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Transcription coactivator binding
    (GO:0001223)
  • Transcription coregulator binding
    (GO:0001221)
  • Transcription regulator complex
    (GO:0005667)
  • Transcription repressor complex
    (GO:0017053)
  • Zinc ion binding
    (GO:0008270)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 57.0919
    Cell Significance Index: 26.0000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 14.3114
    Cell Significance Index: -3.6300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 7.9506
    Cell Significance Index: -3.2300
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.7067
    Cell Significance Index: 5.0800
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.2544
    Cell Significance Index: 2.8800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1377
    Cell Significance Index: 2.1300
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.0576
    Cell Significance Index: 0.5700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0370
    Cell Significance Index: 7.3500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0091
    Cell Significance Index: 16.8400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0079
    Cell Significance Index: 0.2500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0037
    Cell Significance Index: 0.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0031
    Cell Significance Index: 5.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0025
    Cell Significance Index: 3.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0009
    Cell Significance Index: -1.2800
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0016
    Cell Significance Index: -0.0200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0023
    Cell Significance Index: -0.4200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0043
    Cell Significance Index: -2.7500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0053
    Cell Significance Index: -4.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0057
    Cell Significance Index: -4.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0069
    Cell Significance Index: -3.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0086
    Cell Significance Index: -3.9100
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0091
    Cell Significance Index: -0.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0095
    Cell Significance Index: -3.4200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0095
    Cell Significance Index: -0.4800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0135
    Cell Significance Index: -2.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0153
    Cell Significance Index: -2.2200
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: -0.0190
    Cell Significance Index: -0.1000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0200
    Cell Significance Index: -4.2200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0215
    Cell Significance Index: -2.6400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0222
    Cell Significance Index: -3.8000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0272
    Cell Significance Index: -1.1200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0285
    Cell Significance Index: -2.9100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0331
    Cell Significance Index: -0.4700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0340
    Cell Significance Index: -3.8900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0343
    Cell Significance Index: -3.5700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0354
    Cell Significance Index: -0.4200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0369
    Cell Significance Index: -0.9200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0389
    Cell Significance Index: -1.0900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0422
    Cell Significance Index: -1.0800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0425
    Cell Significance Index: -1.8500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0456
    Cell Significance Index: -1.1100
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0465
    Cell Significance Index: -0.6800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0475
    Cell Significance Index: -5.5300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0483
    Cell Significance Index: -3.7100
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0493
    Cell Significance Index: -0.4700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0578
    Cell Significance Index: -3.7300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0594
    Cell Significance Index: -1.1600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0602
    Cell Significance Index: -1.2600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0607
    Cell Significance Index: -4.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0621
    Cell Significance Index: -1.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0628
    Cell Significance Index: -3.2700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0688
    Cell Significance Index: -4.2300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0796
    Cell Significance Index: -2.7900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0809
    Cell Significance Index: -3.8000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0839
    Cell Significance Index: -3.7100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0854
    Cell Significance Index: -3.8700
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0862
    Cell Significance Index: -1.2900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0923
    Cell Significance Index: -5.1800
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0949
    Cell Significance Index: -1.2900
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0951
    Cell Significance Index: -1.3800
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0957
    Cell Significance Index: -1.5500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0973
    Cell Significance Index: -2.4800
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0989
    Cell Significance Index: -0.5200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0993
    Cell Significance Index: -3.7600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1011
    Cell Significance Index: -5.2500
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: -0.1023
    Cell Significance Index: -1.1600
  • Cell Name: immature NK T cell (CL0000914)
    Fold Change: -0.1031
    Cell Significance Index: -1.3200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1069
    Cell Significance Index: -3.5000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1086
    Cell Significance Index: -3.4600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1144
    Cell Significance Index: -3.3700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1205
    Cell Significance Index: -1.3100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1224
    Cell Significance Index: -2.4900
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1285
    Cell Significance Index: -1.2300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.1298
    Cell Significance Index: -1.7300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1308
    Cell Significance Index: -3.8400
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.1313
    Cell Significance Index: -1.2900
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1359
    Cell Significance Index: -1.4900
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.1369
    Cell Significance Index: -1.3200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1384
    Cell Significance Index: -2.2200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1397
    Cell Significance Index: -3.4900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1421
    Cell Significance Index: -3.6300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1491
    Cell Significance Index: -3.9200
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1493
    Cell Significance Index: -1.5000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1496
    Cell Significance Index: -2.1000
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.1512
    Cell Significance Index: -1.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1521
    Cell Significance Index: -4.3400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1538
    Cell Significance Index: -2.6600
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: -0.1542
    Cell Significance Index: -1.2300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1544
    Cell Significance Index: -1.7500
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1576
    Cell Significance Index: -1.7200
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.1588
    Cell Significance Index: -1.6200
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.1593
    Cell Significance Index: -2.1900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1594
    Cell Significance Index: -3.3800
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1602
    Cell Significance Index: -1.7700
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.1605
    Cell Significance Index: -2.5800
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.1619
    Cell Significance Index: -2.7500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1630
    Cell Significance Index: -2.8100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1650
    Cell Significance Index: -3.5700
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.1694
    Cell Significance Index: -2.0200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1697
    Cell Significance Index: -1.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** GATA1 is a member of the GATA family of transcription factors, which are characterized by their ability to bind to specific DNA sequences, known as GATA motifs. This gene is specifically expressed in hematopoietic cells, with high levels of expression in erythrocytes, megakaryocytes, and hematopoietic stem cells. GATA1 is also highly expressed in other cell types, including glial cells, retinal cells, and osteoblasts. **Pathways and Functions** GATA1 is involved in several key pathways, including: 1. **Erythropoiesis**: GATA1 regulates the expression of genes involved in erythropoiesis, including those involved in hemoglobin synthesis and erythrocyte differentiation. 2. **Megakaryocyte Development**: GATA1 is essential for the development and maturation of megakaryocytes, the cells responsible for platelet production. 3. **Cell Fate Commitment**: GATA1 regulates the commitment of hematopoietic stem cells to specific lineages, including erythroid and megakaryocytic lineages. 4. **Cell Differentiation**: GATA1 is involved in the regulation of cellular differentiation, including the differentiation of erythrocytes and megakaryocytes. 5. **Apoptosis**: GATA1 regulates the apoptotic process, preventing excessive cell death and promoting cell survival. **Clinical Significance** Dysregulation of GATA1 has been implicated in various hematological disorders, including: 1. **Erythropoietic Dysplasias**: Mutations in GATA1 have been associated with erythropoietic dysplasias, a group of disorders characterized by abnormal erythropoiesis. 2. **Megakaryoblastic Leukemia**: GATA1 mutations have been identified in megakaryoblastic leukemia, a type of leukemia characterized by the abnormal proliferation of megakaryocytes. 3. **Aplastic Anemia**: GATA1 has been implicated in the regulation of hematopoiesis in aplastic anemia, a condition characterized by bone marrow failure. In conclusion, GATA1 is a critical regulator of erythropoiesis and beyond, with implications in various cellular processes, including cell fate commitment, differentiation, and survival. Understanding the mechanisms of GATA1 regulation and its dysregulation is essential for the development of novel therapeutic strategies for hematological disorders.

Genular Protein ID: 830163787

Symbol: GATA1_HUMAN

Name: Erythroid transcription factor

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2104960

Title: Structure and evolution of a human erythroid transcription factor.

PubMed ID: 2104960

DOI: 10.1038/343092a0

PubMed ID: 2300555

Title: The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome.

PubMed ID: 2300555

DOI: 10.1073/pnas.87.2.668

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8524811

Title: Alternative translation initiation site usage results in two functionally distinct forms of the GATA-1 transcription factor.

PubMed ID: 8524811

DOI: 10.1073/pnas.92.25.11598

PubMed ID: 9859997

Title: Regulation of activity of the transcription factor GATA-1 by acetylation.

PubMed ID: 9859997

DOI: 10.1038/25166

PubMed ID: 16783379

Title: An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis.

PubMed ID: 16783379

DOI: 10.1038/ng1825

PubMed ID: 16371476

Title: PDSM, a motif for phosphorylation-dependent SUMO modification.

PubMed ID: 16371476

DOI: 10.1073/pnas.0503698102

PubMed ID: 17420275

Title: GATA-1 and Gfi-1B interplay to regulate Bcl-xL transcription.

PubMed ID: 17420275

DOI: 10.1128/mcb.02212-06

PubMed ID: 22235304

Title: Knockdown of ZNF268, which is transcriptionally downregulated by GATA-1, promotes proliferation of K562 cells.

PubMed ID: 22235304

DOI: 10.1371/journal.pone.0029518

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24245781

Title: CCAR1/CoCoA pair-mediated recruitment of the Mediator defines a novel pathway for GATA1 function.

PubMed ID: 24245781

DOI: 10.1111/gtc.12104

PubMed ID: 26019275

Title: A novel in-frame deletion in the leucine zipper domain of C/EBPepsilon leads to neutrophil-specific granule deficiency.

PubMed ID: 26019275

DOI: 10.4049/jimmunol.1402222

PubMed ID: 10700180

Title: Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

PubMed ID: 10700180

DOI: 10.1038/73480

PubMed ID: 11418466

Title: Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

PubMed ID: 11418466

DOI: 10.1182/blood.v98.1.85

PubMed ID: 11675338

Title: X-linked thrombocytopenia caused by a novel mutation of GATA-1.

PubMed ID: 11675338

DOI: 10.1182/blood.v98.9.2681

PubMed ID: 12200364

Title: X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.

PubMed ID: 12200364

DOI: 10.1182/blood-2002-02-0387

PubMed ID: 11809723

Title: Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.

PubMed ID: 11809723

DOI: 10.1093/hmg/11.2.147

PubMed ID: 35030251

Title: Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.

PubMed ID: 35030251

DOI: 10.1182/blood.2021013753

Sequence Information:

  • Length: 413
  • Mass: 42751
  • Checksum: 822BD2DE14B908AD
  • Sequence:
  • MEFPGLGSLG TSEPLPQFVD PALVSSTPES GVFFPSGPEG LDAAASSTAP STATAAAAAL 
    AYYRDAEAYR HSPVFQVYPL LNCMEGIPGG SPYAGWAYGK TGLYPASTVC PTREDSPPQA 
    VEDLDGKGST SFLETLKTER LSPDLLTLGP ALPSSLPVPN SAYGGPDFSS TFFSPTGSPL 
    NSAAYSSPKL RGTLPLPPCE ARECVNCGAT ATPLWRRDRT GHYLCNACGL YHKMNGQNRP 
    LIRPKKRLIV SKRAGTQCTN CQTTTTTLWR RNASGDPVCN ACGLYYKLHQ VNRPLTMRKD 
    GIQTRNRKAS GKGKKKRGSS LGGTGAAEGP AGGFMVVAGG SGSGNCGEVA SGLTLGPPGT 
    AHLYQGLGPV VLSGPVSHLM PFPGPLLGSP TGSFPTGPMP PTTSTTVVAP LSS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.