Dmd - dystrophin Gene
Also Known as DNADMD1
Species: Rattus norvegicus
Summary
Enables several functions, including PDZ domain binding activity; Integrin binding activity; and lamin binding activity. Involved in several processes, including nervous system development; regulation of neuron differentiation; and response to denervation involved in regulation of muscle adaptation. Located in several cellular components, including mitochondrial membrane; neurofilament; and secretory vesicle. Part of dystrophin-associated glycoprotein complex. Used to study Duchenne muscular dystrophy; brain edema; and dilated cardiomyopathy. Biomarker of muscular atrophy; retinal degeneration; and status epilepticus. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (Dystrophin). [provided by Alliance of Genome Resources, Apr 2022]
Dmd Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001005244.2 | NP_001005244.1 | dystrophin isoform Dp71ab |
| NM_001005246.1 | NP_001005246.1 | dystrophin isoform Dp71c |
| NM_001370876.1 | NP_001357805.1 | dystrophin isoform 1 |
| NM_012698.3 | NP_036830.2 | dystrophin isoform Dp71a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables PDZ domain binding |
IPI
IPI: Inferred from physical interaction
|
15024025 | RGD |
| enables actin binding |
IDA
IDA: Inferred from direct assay
|
10984432 | RGD |
| enables integrin binding |
IPI
IPI: Inferred from physical interaction
|
18677563 | RGD |
| enables lamin binding |
IPI
IPI: Inferred from physical interaction
|
21886794 | RGD |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10545507 | RGD |
| enables protein-containing complex binding |
IPI
IPI: Inferred from physical interaction
|
15247274 | RGD |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in astrocyte projection |
IDA
IDA: Inferred from direct assay
|
10411999 | RGD |
| located in axon |
IDA
IDA: Inferred from direct assay
|
9858364 | RGD |
| located in cell projection |
IDA
IDA: Inferred from direct assay
|
11368101 | RGD |
| part of dystrophin-associated glycoprotein complex |
IDA
IDA: Inferred from direct assay
|
15247274 | RGD |
| located in lamellipodium |
IDA
IDA: Inferred from direct assay
|
11368101 | RGD |
| located in matrix side of mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
10913331 | RGD |
| located in mitochondrial outer membrane |
IDA
IDA: Inferred from direct assay
|
10411999 | RGD |
| located in myofibril |
IDA
IDA: Inferred from direct assay
|
12890920 | RGD |
| located in neurofilament |
IDA
IDA: Inferred from direct assay
|
11326752 | RGD |
| located in neuronal cell body |
IDA
IDA: Inferred from direct assay
|
10359335 | RGD |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
15149856 | RGD |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
11368101 | RGD |
| located in postsynaptic density |
IDA
IDA: Inferred from direct assay
|
10545507 | RGD |
| located in ribosome |
IDA
IDA: Inferred from direct assay
|
10411999 | RGD |
| located in sarcolemma |
IDA
IDA: Inferred from direct assay
|
12037582 | RGD |
| located in secretory granule |
IDA
IDA: Inferred from direct assay
|
9858364 | RGD |
| located in synaptic vesicle membrane |
IDA
IDA: Inferred from direct assay
|
1454857 | RGD |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dystrophin |
|
|