| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2623 |
Name | GATA1 |
Synonym | ERYF1|GATA-1|GF-1|GF1|NFE1|XLTT;GATA binding protein 1 (globin transcription factor 1);GATA1;GATA binding protein 1 (globin transcription factor 1) |
Definition | GATA-binding factor 1|NF-E1 DNA-binding protein|erythroid transcription factor|erythroid transcription factor 1|globin transcription factor 1|transcription factor GATA1 |
Position | Xp11.23 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Notch-mediated HES/HEY network;PID Curated;200196 |
Pathway | Signaling events mediated by HDAC Class II;PID Curated;200019 |
Pathway | C-MYB transcription factor network;PID Curated;200130 |
Pathway | Signaling events mediated by HDAC Class I;PID Curated;200070 |
Pathway | hemoglobins chaperone;PID BioCarta;100250 |
Disease | Hereditary disease;FunDO |
Disease | Bone marrow disease;FunDO |
Disease | Myeloproliferative disease;FunDO |
Disease | Thrombocytopenia with beta-thalassemia, X-linked;OMIM |
Disease | Thrombocytopenia;FunDO |
Disease | macrothrombocytopenia and anemia;GAD |
Disease | Anemia, X-linked, without thrombocytopenia;OMIM |
Disease | Leukemia, megakaryoblastic, with or without Down syndrome;OMIM |
Disease | Leukemia, megakaryoblastic, of Down syndrome;OMIM |
Disease | Lymphoma;FunDO |
Disease | Leukemia;FunDO |
Disease | Aplastic anemia;FunDO |
Disease | Macrothrombocytopenia;OMIM |
Disease | megakaryocytic malignancies;GAD |
Disease | Down syndrome;FunDO |
Disease | Hematopoietic system disease;FunDO |
Disease | Dyserythropoietic anemia with thrombocytopenia;OMIM |
External Links | |
Links to Entrez Gene | 2623 |
Links to all GeneRIF Items | 2623 |
Links to iHOP | 2623 |
Sequence Information | |
Nucleotide Sequence | >2623 : length: 1242 atggagttccctggcctggggtccctggggacctcagagcccctcccccagtttgtggat cctgctctggtgtcctccacaccagaatcaggggttttcttcccctctgggcctgagggc ttggatgcagcagcttcctccactgccccgagcacagccaccgctgcagctgcggcactg gcctactacagggacgctgaggcctacagacactccccagtctttcaggtgtacccattg ctcaactgtatggaggggatcccagggggctcaccatatgccggctgggcctacggcaag acggggctctaccctgcctcaactgtgtgtcccacccgcgaggactctcctccccaggcc gtggaagatctggatggaaaaggcagcaccagcttcctggagactttgaagacagagcgg ctgagcccagacctcctgaccctgggacctgcactgccttcatcactccctgtccccaat agtgcttatgggggccctgacttttccagtaccttcttttctcccaccgggagccccctc aattcagcagcctattcctctcccaagcttcgtggaactctccccctgcctccctgtgag gccagggagtgtgtgaactgcggagcaacagccactccactgtggcggagggacaggaca ggccactacctatgcaacgcctgcggcctctatcacaagatgaatgggcagaacaggccc ctcatccggcccaagaagcgcctgattgtcagtaaacgggcaggtactcagtgcaccaac tgccagacgaccaccacgacactgtggcggagaaatgccagtggggatcccgtgtgcaat gcctgcggcctctactacaagctacaccaggtgaaccggccactgaccatgcggaaggat ggtattcagactcgaaaccgcaaggcatctggaaaagggaaaaagaaacggggctccagt ctgggaggcacaggagcagccgaaggaccagctggtggctttatggtggtggctgggggc agcggtagcgggaattgtggggaggtggcttcaggcctgacactgggccccccaggtact gcccatctctaccaaggcctgggccctgtggtgctgtcagggcctgttagccacctcatg cctttccctggacccctactgggctcacccacgggctccttccccacaggccccatgccc cccaccaccagcactactgtggtggctccgctcagctcatga |
Protein Sequence | >2623 : length: 413 MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAAL AYYRDAEAYRHSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQA VEDLDGKGSTSFLETLKTERLSPDLLTLGPALPSSLPVPNSAYGGPDFSSTFFSPTGSPL NSAAYSSPKLRGTLPLPPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQNRP LIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCNACGLYYKLHQVNRPLTMRKD GIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVASGLTLGPPGT AHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMPPTTSTTVVAPLSS |