1. Gene
  2. Dysf - dysferlin Gene

Dysf - dysferlin Gene

种属: Mus musculus

同用名: D6Pas3; 2310004N10Rik

基因 ID: 26903 | 基因类型: protein coding

关于 Dysf

功能概要

Enables alpha-tubulin binding activity and microtubule binding activity. Involved in vesicle fusion. Acts upstream of or within several processes, including myeloid cell activation involved in immune response; negative regulation of macromolecule metabolic process; and plasma membrane organization. Located in several cellular components, including T-tubule; lamellipodium; and microtubule. Is expressed in heart ventricle. Used to study autosomal recessive limb-girdle muscular dystrophy type 2B and distal myopathy. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal muscular dystrophy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin). [provided by Alliance of Genome Resources, Apr 2022]

Dysf 基因产物(7)

mRNA Protein Name
NM_001077694.2 NP_001071162.1 dysferlin isoform 2
NM_001310152.1 NP_001297081.1 dysferlin isoform 3
NM_001403655.1 NP_001390584.1 dysferlin isoform 4
NM_001403656.1 NP_001390585.1 dysferlin isoform 5
NM_001403657.1 NP_001390586.1 dysferlin isoform 6
NM_001403658.1 NP_001390587.1 dysferlin isoform 7
NM_021469.4 NP_067444.2 dysferlin isoform 1
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 alpha-tubulin binding IDA
IDA: 通过直接分析推断
20405035 MGI
enables alpha-tubulin binding IPI
IPI: 通过物理相互作用推断
20405035 MGI
enables microtubule binding IDA
IDA: 通过直接分析推断
20405035 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
14506282 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within T-tubule organization IGI
IGI: 通过遗传相互作用推断
24177035 MGI
acts upstream of or within T-tubule organization IMP
IMP: 通过突变表型推断
24302765 MGI
acts upstream of or within angiogenesis IMP
IMP: 通过突变表型推断
20724702 MGI
acts upstream of or within cellular response to osmotic stress IMP
IMP: 通过突变表型推断
24302765 MGI
acts upstream of or within cytokine production IMP
IMP: 通过突变表型推断
19286669 MGI
acts upstream of or within fat cell differentiation IMP
IMP: 通过突变表型推断
24685690 MGI
acts upstream of or within glycerol metabolic process IGI
IGI: 通过遗传相互作用推断
24177035 MGI
acts upstream of or within glycerol metabolic process IMP
IMP: 通过突变表型推断
24177035 MGI
acts upstream of or within lipid storage IMP
IMP: 通过突变表型推断
24685690 MGI
acts upstream of or within macrophage activation involved in immune response IMP
IMP: 通过突变表型推断
18276788 MGI
acts upstream of or within monocyte activation involved in immune response IMP
IMP: 通过突变表型推断
18276788 MGI
acts upstream of or within muscle cell development IGI
IGI: 通过遗传相互作用推断
24177035 MGI
acts upstream of or within muscle cell development IMP
IMP: 通过突变表型推断
24177035 MGI
acts upstream of or within negative regulation of gene expression IMP
IMP: 通过突变表型推断
18276788 MGI
acts upstream of or within negative regulation of high voltage-gated calcium channel activity IMP
IMP: 通过突变表型推断
24302765 MGI
acts upstream of or within negative regulation of phagocytosis IMP
IMP: 通过突变表型推断
18276788 MGI
acts upstream of or within negative regulation of protein catabolic process IMP
IMP: 通过突变表型推断
20724702 MGI
acts upstream of or within negative regulation of protein polyubiquitination IMP
IMP: 通过突变表型推断
20724702 MGI
acts upstream of or within plasma membrane repair IDA
IDA: 通过直接分析推断
14506282 MGI
involved in plasma membrane repair IMP
IMP: 通过突变表型推断
12736685 MGI
acts upstream of or within positive regulation of cell adhesion IMP
IMP: 通过突变表型推断
20724702 MGI
acts upstream of or within positive regulation of endothelial cell proliferation IMP
IMP: 通过突变表型推断
20724702 MGI
acts upstream of or within positive regulation of neutrophil chemotaxis IMP
IMP: 通过突变表型推断
19286669 MGI
acts upstream of protein catabolic process IMP
IMP: 通过突变表型推断
20724702 MGI
acts upstream of protein polyubiquitination IMP
IMP: 通过突变表型推断
20724702 MGI
acts upstream of or within regulation of calcium ion import IMP
IMP: 通过突变表型推断
24302765 MGI
acts upstream of or within skeletal muscle tissue regeneration IMP
IMP: 通过突变表型推断
19286669 MGI
involved in vesicle fusion IMP
IMP: 通过突变表型推断
12736685 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
20724702 MGI
located in T-tubule IDA
IDA: 通过直接分析推断
16319126 MGI
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
12736685 MGI
located in lamellipodium IDA
IDA: 通过直接分析推断
18325335 MGI
located in membrane microdomain IDA
IDA: 通过直接分析推断
20724702 MGI
located in microtubule IDA
IDA: 通过直接分析推断
20405035 MGI
located in nucleus IDA
IDA: 通过直接分析推断
20724702 MGI
located in plasma membrane IDA
IDA: 通过直接分析推断
20724702 MGI
located in sarcolemma IDA
IDA: 通过直接分析推断
12736685 MGI
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

dysferlin

dysferlin_a

dystrophy-associated fer-1-like protein

fer-1-like protein 1

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Dysf NCBI NCBI:8291