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Details of TAF1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| TAF1 | BA2R,CCG1,CCGS,TAF2A | P21675 | TAF1_HUMAN | 6872 | ENSG00000147133 | Transcription initiation factor TFIID subunit 1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Dystonia 3 (DYT3) [MIM:314250]: A X-linked dystonia- parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease. Note=The disease is caused by mutations affecting the gene represented in this entry. | 314250 | ||||||||
Phenotypes
Abnormality of central motor function, Abnormality of extrapyramidal motor function, Abnormality of movement, Abnormality of muscle physiology, Abnormality of the central nervous system, Abnormality of the eye, Abnormality of the musculature, Abnormality of the nervous system, All, Chorea, Dystonia, Gonosomal inheritance, Involuntary movements, Mode of inheritance, Myoclonus, Parkinsonism, Phenotypic abnormality, Torsion dystonia, Tremor, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Taf1 | Taf1 | taf-1 | Sp-Taf1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| TAF6 | TAF1 | 1 | TAF6 | TAF1 | cpx42 | yes | yes | yes | Known |
| TAF4 | TAF1 | 1 | TAF4 | TAF1 | cpx42 | yes | yes | yes | Known |
| TAF1 | TAF3 | 1 | TAF1 | TAF3 | cpx42 | yes | yes | no | Known |
| TAF1 | TAF5 | 1 | TAF1 | TAF5 | cpx42 | yes | yes | yes | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|