1. Gene
  2. Dmd - dystrophin Gene

Dmd - dystrophin Gene

种属: Rattus norvegicus

同用名: DNADMD1

基因 ID: 24907 | 基因类型: protein coding

关于 Dmd

功能概要

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables PDZ domain binding IPI
IPI: 通过物理相互作用推断
15024025 RGD
enables actin binding IDA
IDA: 通过直接分析推断
10984432 RGD
enables integrin binding IPI
IPI: 通过物理相互作用推断
18677563 RGD
enables lamin binding IPI
IPI: 通过物理相互作用推断
21886794 RGD
enables protein binding IPI
IPI: 通过物理相互作用推断
10545507 RGD
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
15247274 RGD
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in astrocyte projection IDA
IDA: 通过直接分析推断
10411999 RGD
located in axon IDA
IDA: 通过直接分析推断
9858364 RGD
located in cell projection IDA
IDA: 通过直接分析推断
11368101 RGD
part of dystrophin-associated glycoprotein complex IDA
IDA: 通过直接分析推断
15247274 RGD
located in lamellipodium IDA
IDA: 通过直接分析推断
11368101 RGD
located in matrix side of mitochondrial inner membrane IDA
IDA: 通过直接分析推断
10913331 RGD
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
10411999 RGD
located in myofibril IDA
IDA: 通过直接分析推断
12890920 RGD
located in neurofilament IDA
IDA: 通过直接分析推断
11326752 RGD
located in neuronal cell body IDA
IDA: 通过直接分析推断
10359335 RGD
located in nucleus IDA
IDA: 通过直接分析推断
15149856 RGD
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
11368101 RGD
located in postsynaptic density IDA
IDA: 通过直接分析推断
10545507 RGD
located in ribosome IDA
IDA: 通过直接分析推断
10411999 RGD
located in sarcolemma IDA
IDA: 通过直接分析推断
12037582 RGD
located in secretory granule IDA
IDA: 通过直接分析推断
9858364 RGD
located in synaptic vesicle membrane IDA
IDA: 通过直接分析推断
1454857 RGD
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

dystrophin

apodystrophin-3

apodystrophin-I

dystrophin, muscular dystrophy

dystrophin-related

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Dmd NCBI NCBI:1756