| AgACC | Ag004099 |
| Date | 19-08-2008 |
| Last updated | 14-12-2016 |
| Antigen Name | STAT1 |
| Full Name | Signal transducer and activator of transcription 1, 91kDa |
| Synonym | DKFZp686B04100; ISGF-3; STAT91; Signal transducer and activator of transcription 1-alpha/beta; Transcription factor ISGF-3 components p91/p84; signal transducer and activator of transcription 1; signal transducer and activator of transcription 1, 91kD; signal transducer and activator of transcription 1, 91kDa; signal transducer and activator of transcription-1; transcription factor ISGF-3
another display format
- DKFZp686B04100
- ISGF-3
- STAT91
- Signal transducer and activator of transcription 1-alpha/beta
- Transcription factor ISGF-3 components p91/p84
- signal transducer and activator of transcription 1
- signal transducer and activator of transcription 1, 91kD
- signal transducer and activator of transcription 1, 91kDa
- signal transducer and activator of transcription-1
- transcription factor ISGF-3
|
| UniProt ID | P42224
|
| NCBI Gene ID | 6772 |
| GeneCard ID | GC02M190964 |
| SwissProt VARIANT ID | VAR_018266 |
| Comment | Mendelian susceptibility to mycobacterial disease (MSMD) - Defects in STAT1 are a cause of mendelian susceptibility to mycobacterial disease; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance; Loss of GAF and ISGF3 activation; impairs the nuclear accumulation of GAF but not of ISGF3 in heterozygous cells stimulated by IFNs |
| Annotation | This is a fragment sequence. |
| Isoforms | Ag000451, Ag000452, Ag002081, Ag002082
Alignment of all Isoforms |
| Mutation entries | Ag000562, Ag004097, Ag004098, Ag004099
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| Predicted HLA binders | |
| Reference sequence | EAPEPMELDGPKGTGYIKTELISVSEVHPSRLQTTDNLLPM |
| Antigen sequence | EAPEPMELDGPKGTGYIKTESISVSEVHPSRLQTTDNLLPM |