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MGI:Dmd
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Dmd ( synonyms: Dp427, Dp71, Duchenne muscular dystrophy, mdx, pke, X-linked muscular dystrophy ) | |
| Protein Name(s) | dystrophin, muscular dystrophy, | |
| External Links | ||
| MGI | MGI:94909 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0002162 |
dystroglycan binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0003779 |
actin binding |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0009 |
F |
From MGI |
||
| GO:0003779 |
actin binding |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0005178 |
integrin binding |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:3793389 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:894153 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005626 |
insoluble fraction |
MGI:MGI:3028713 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005634 |
nucleus |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0963 |
C |
From MGI |
||
| GO:0005792 |
microsome |
MGI:MGI:3037366 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005856 |
cytoskeleton |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0206 |
C |
From MGI |
||
| GO:0005886 |
plasma membrane |
MGI:MGI:3028713 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0006355 |
regulation of transcription, DNA-dependent |
MGI:MGI:67548 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1856328 |
P |
From MGI |
||
| GO:0007517 |
muscle organ development |
MGI:MGI:3027425 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1856328 |
P |
From MGI |
||
| GO:0007519 |
skeletal muscle tissue development |
MGI:MGI:3586427 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:97275 |
P |
From MGI |
||
| GO:0007519 |
skeletal muscle tissue development |
MGI:MGI:3623691 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1856328 |
P |
From MGI |
||
| GO:0008270 |
zinc ion binding |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0008307 |
structural constituent of muscle |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0009986 |
cell surface |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0016010 |
dystrophin-associated glycoprotein complex |
MGI:MGI:3758478 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0016010 |
dystrophin-associated glycoprotein complex |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0016010 |
dystrophin-associated glycoprotein complex |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0016020 |
membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0472 |
C |
From MGI |
||
| GO:0021629 |
olfactory nerve structural organization |
MGI:MGI:3805594 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3531484 |
P |
From MGI |
||
| GO:0030016 |
myofibril |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0030018 |
Z disc |
MGI:MGI:3758478 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0030055 |
cell-substrate junction |
MGI:MGI:3758478 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0030165 |
PDZ domain binding |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0032403 |
protein complex binding |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:1928619 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:2135840 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:3623691 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:3665360 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0042383 |
sarcolemma |
MGI:MGI:81176 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0043034 |
costamere |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0043043 |
peptide biosynthetic process |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0044306 |
neuron projection terminus |
MGI:MGI:2181231 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0045121 |
membrane raft |
MGI:MGI:2135840 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0045202 |
synapse |
MGI:MGI:2179537 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0045213 |
neurotransmitter receptor metabolic process |
MGI:MGI:1098355 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1856328 |
P |
From MGI |
||
| GO:0046716 |
muscle cell homeostasis |
MGI:MGI:55832 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1856328 |
P |
From MGI |
||
| GO:0046872 |
metal ion binding |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0479 |
F |
From MGI |
||
| GO:0048812 |
neuron projection morphogenesis |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0050998 |
nitric-oxide synthase binding |
MGI:MGI:3807771 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
| ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Reynolds JG et al. (2008) Deregulated protein kinase A signaling and myospryn expression in muscular dystrophy. J Biol Chem 283: 8070-4 PubMed GONUTS page
- ↑ Peters MF et al. (1997) Differential association of syntrophin pairs with the dystrophin complex. J Cell Biol 138: 81-93 PubMed GONUTS page
- ↑ 3.0 3.1 Koh TJ & Escobedo J (2004) Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions. Am J Physiol Cell Physiol 286: C713-22 PubMed GONUTS page
- ↑ Benson MA et al. (2004) Myospryn is a novel binding partner for dysbindin in muscle. J Biol Chem 279: 10450-8 PubMed GONUTS page
- ↑ Goldspink G et al. (1994) Age-related changes in collagen gene expression in the muscles of mdx dystrophic and normal mice. Neuromuscul Disord 4: 183-91 PubMed GONUTS page
- ↑ Abmayr S et al. (2004) Characterization of ARC, apoptosis repressor interacting with CARD, in normal and dystrophin-deficient skeletal muscle. Hum Mol Genet 13: 213-21 PubMed GONUTS page
- ↑ Inanlou MR & Kablar B (2003) Abnormal development of the diaphragm in mdx:MyoD-/-(9th) embryos leads to pulmonary hypoplasia. Int J Dev Biol 47: 363-71 PubMed GONUTS page
- ↑ 8.0 8.1 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
- ↑ 9.0 9.1 9.2 Belkin AM & Burridge K (1995) Association of aciculin with dystrophin and utrophin. J Biol Chem 270: 6328-37 PubMed GONUTS page
- ↑ Takatoh J et al. (2008) Loss of short dystrophin isoform Dp71 in olfactory ensheathing cells causes vomeronasal nerve defasciculation in mouse olfactory system. Exp Neurol 213: 36-47 PubMed GONUTS page
- ↑ Hagiwara Y et al. (2000) Caveolin-3 deficiency causes muscle degeneration in mice. Hum Mol Genet 9: 3047-54 PubMed GONUTS page
- ↑ 12.0 12.1 Galbiati F et al. (2001) Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities. J Biol Chem 276: 21425-33 PubMed GONUTS page
- ↑ Lechner BE et al. (2006) Developmental regulation of biglycan expression in muscle and tendon. Muscle Nerve 34: 347-55 PubMed GONUTS page
- ↑ Song KS et al. (1996) Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem 271: 15160-5 PubMed GONUTS page
- ↑ Jellali A et al. (2002) Cellular localization of the vesicular inhibitory amino acid transporter in the mouse and human retina. J Comp Neurol 449: 76-87 PubMed GONUTS page
- ↑ Adams ME et al. (2000) Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin. J Cell Biol 150: 1385-98 PubMed GONUTS page
- ↑ Xu R & Salpeter MM (1997) Acetylcholine receptors in innervated muscles of dystrophic mdx mice degrade as after denervation. J Neurosci 17: 8194-200 PubMed GONUTS page
- ↑ Bulfield G et al. (1984) X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci U S A 81: 1189-92 PubMed GONUTS page
- ↑ Brenman JE et al. (1995) Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 82: 743-52 PubMed GONUTS page
