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  5. Erythroid transcription factor

Tbio Erythroid transcription factor

Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781).

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]

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Property Summary

NCBI Gene PubMed Count 228
PubMed Score 967.86
PubTator Score 667.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Anemia 365
ALZHEIMER DISEASE 2 5
Abnormal blistering of the skin 54
Abnormal hemoglobin finding 8
Abnormal platelet function 12
Abnormality of reticulocytes 1
Abnormality of the heme biosynthetic pathway 3
Abnormality of the urinary system 21
Acanthocytosis 7
Alzheimer's disease 658
Anemia, Diamond-Blackfan 16
Anemia, Hemolytic 55
Anemia, Macrocytic 18
Anisocytosis 3
Anus, Imperforate 46
Atlantoaxial instability 3
Atrioventricular Septal Defect 22
Atypical scarring of skin 62
Bleeding tendency 37
Bleeding time prolonged 31
Blister of skin 54
Brachycephaly 88
Broad cranium shape 88
Brushfield spots 4
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cleft Palate 271
Conduction disorder of the heart 79
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital small ears 48
Congenital thrombocytopenia 3
Decreased platelet count 111
Delayed Puberty 97
Dull intelligence 645
Duodenal stenosis/atresia 1
Dyserythropoietic anemia 3
EKG abnormalities 78
Ecchymosis 66
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elliptocytosis found 7
Elliptocytosis, Hereditary 9
Epistaxis 43
Excess nuchal skin 30
Fatigue 182
Flat face 52
Foot Deformities 30
Frequent fractures 53
Generalized osteopenia 99
Hand deformities 32
Hemoglobin increased 6
Hemoglobin low 124
Highly variable severity 157
Hirschsprung Disease 31
Hypertrichosis 46
Hypoplastic iliac wing 19
Hypothyroidism 122
Hypotrophic malar bone 129
Immunologic Deficiency Syndromes 113
Increased fracture rate 53
Increased tendency to bruise 66
Ineffective erythropoiesis 3
Infantile onset 238
Intellectual disability 1016
Intermittent migraine headaches 68
Isolated cases 72
Joint laxity 54
Leukemia, Myelocytic, Acute 120
Low intelligence 645
Macroglossia 65
Malar flattening 129
Megacolon 29
Mental Retardation 645
Mental deficiency 645
Migraine Disorders 76
Muscle hypotonia 571
Myeloproliferative disease 16
Neutrophil count decreased 47
Osteopenia 99
Pallor 40
Persistent bleeding after trauma 6
Petechiae 13
Photosensitivity of skin 51
Poor school performance 645
Porphyria, Erythropoietic 2
Protrusion of tongue 11
Recurrent skin infections 21
Reticulocytosis 20
Shallow acetabular fossae 5
Shallow acetabulum 5
Short hands 50
Short middle phalanx of the 5th finger 13
Short stature 531
Single transverse palmar crease 29
Skin bulla 54
Spade-like hand 16
Speckled iris 4
Splenomegaly 190
Stenosis of duodenum 1
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Urine color abnormal 6
Variable expressivity 157
Varying degree of multiple fractures 53
Wide skull shape 88
X- linked recessive 110
genital abnormal 17
reproductive system abnormality 17
Disease Target Count P-value
osteosarcoma 7950 8.5e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Hematologic cancer 12 0.0 0.9
Immune system cancer 140 0.0 0.9
Disease Target Count Z-score Confidence
Cancer 2499 4.612 2.3
Thalassemia 53 3.954 2.0
Polycythemia 25 3.234 1.6

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.860 8.5e-05

Synonym

Accession P15976 Q96GB8
Symbols GF1
GF-1
NFE1
XLTT
ERYF1
NF-E1
XLANP
XLTDA
GATA-1

Gene

GATA1

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Macaque OMA EggNOG Inparanoid

 UniProt Keyword (20)

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 GO Function (18)

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 GO Component (5)

 GO Process (34)

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 Compartment GO Term (39)

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 OMIM Phenotype (4)

 MGI Phenotype (13)

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 HCA RNA Cell Line (36)

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Pathway (15)

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Protein-protein Interaction (1)

TRIP6  

Gene RIF (197)

AA Sequence 

MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAALAYYRDAEAYR      1 - 70
HSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQAVEDLDGKGSTSFLETLKTER     71 - 140
LSPDLLTLGPALPSSLPVPNSAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRGTLPLPPCEARECVNCGAT    141 - 210
ATPLWRRDRTGHYLCNACGLYHKMNGQNRPLIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCN    211 - 280
ACGLYYKLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVA    281 - 350
SGLTLGPPGTAHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMPPTTSTTVVAPLSS           351 - 413
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Text Mined References (231)

PMID Year Title