SNTB1 - syntrophin beta 1 Gene
Also Known as A1B; SNT2; BSYN2; 59-DAP; DAPA1B; SNT2B1; TIP-43
Species: Homo sapiens
About SNTB1
This gene has 6 transcripts (splice variants), 199 orthologues and 4 paralogues. Broad expression in thyroid (RPKM 41.8), adrenal (RPKM 32.7) and 22 other tissues.
Summary
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with Dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two Other structurally-related genes. [provided by RefSeq, Jul 2008]
SNTB1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_021021.4 | NP_066301.1 | beta-1-syntrophin |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7844150 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
18468998 | GOA |
SNTB1 Protein Structure
PDZ: PDZ domain (Also known as DHR or GLGF) (115 - 191)
PH: PH domain (325 - 431)
- 0
- 100
- 200
- 300
- 400
- 500
- 538 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
beta-1-syntrophin |
|
SNTB1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SNTB1 | Q13884 | DMD | Homo sapiens | P11532 | 7844150 | |
|
Intra
|
SNTB1 | Q13884 | ABCA1 | Homo sapiens | O95477 | 16192269 | |
|
Intra
|
SNTB1 | Q13884 | ABCA1 | Homo sapiens | O95477 | 16192269 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Myopia |
|
|
| Myopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | SNTB1 | VGNC | VGNC:59366 |
| Rattus norvegicus | SNTB1 | RGD | RGD:1307728 |
| Canis familiaris | SNTB1 | VGNC | VGNC:46613 |
| Macaca mulatta | SNTB1 | VGNC | VGNC:77680 |
| Mus musculus | SNTB1 | MGD | MGI:101781 |
| Others | SNTB1 | NCBI |