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MGI:Dysf
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Dysf | |
| Protein Name(s) | dysferlin, | |
| External Links | ||
| MGI | MGI:1349385 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0001778 |
plasma membrane repair |
MGI:MGI:2657049 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0001778 |
plasma membrane repair |
MGI:MGI:2683818 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:2683818 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005544 |
calcium-dependent phospholipid binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0005886 |
plasma membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-1003 |
C |
From MGI |
||
| GO:0006906 |
vesicle fusion |
MGI:MGI:2657049 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0016020 |
membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0472 |
C |
From MGI |
||
| GO:0016021 |
integral to membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0812 |
C |
From MGI |
||
| GO:0016021 |
integral to membrane |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
C |
From MGI |
|||
| GO:0030315 |
T-tubule |
MGI:MGI:3612003 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0031410 |
cytoplasmic vesicle |
MGI:MGI:2657049 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:2657049 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:2683818 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:3612003 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:3623691 |
IDA: Inferred from Direct Assay |
C |
From MGI |
| ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 Bansal D et al. (2003) Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423: 168-72 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 Lennon NJ et al. (2003) Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 278: 50466-73 PubMed GONUTS page
- ↑ 3.0 3.1 Hernández-Deviez DJ et al. (2006) Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet 15: 129-42 PubMed GONUTS page
- ↑ Sher RB et al. (2006) A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. J Biol Chem 281: 4938-48 PubMed GONUTS page
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