Dysf - dysferlin Gene

Also Known as D6Pas3; 2310004N10Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 26903

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables alpha-tubulin binding IDA
IDA: Inferred from direct assay
20405035 MGI
enables alpha-tubulin binding IPI
IPI: Inferred from physical interaction
20405035 MGI
enables microtubule binding IDA
IDA: Inferred from direct assay
20405035 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
14506282 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within T-tubule organization IGI
IGI: Inferred from genetic interaction
24177035 MGI
acts upstream of or within T-tubule organization IMP
IMP: Inferred from mutant phenotype
24302765 MGI
acts upstream of or within angiogenesis IMP
IMP: Inferred from mutant phenotype
20724702 MGI
acts upstream of or within cellular response to osmotic stress IMP
IMP: Inferred from mutant phenotype
24302765 MGI
acts upstream of or within cytokine production IMP
IMP: Inferred from mutant phenotype
19286669 MGI
acts upstream of or within fat cell differentiation IMP
IMP: Inferred from mutant phenotype
24685690 MGI
acts upstream of or within glycerol metabolic process IGI
IGI: Inferred from genetic interaction
24177035 MGI
acts upstream of or within glycerol metabolic process IMP
IMP: Inferred from mutant phenotype
24177035 MGI
acts upstream of or within lipid storage IMP
IMP: Inferred from mutant phenotype
24685690 MGI
acts upstream of or within macrophage activation involved in immune response IMP
IMP: Inferred from mutant phenotype
18276788 MGI
acts upstream of or within monocyte activation involved in immune response IMP
IMP: Inferred from mutant phenotype
18276788 MGI
acts upstream of or within muscle cell development IGI
IGI: Inferred from genetic interaction
24177035 MGI
acts upstream of or within muscle cell development IMP
IMP: Inferred from mutant phenotype
24177035 MGI
acts upstream of or within negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
18276788 MGI
acts upstream of or within negative regulation of high voltage-gated calcium channel activity IMP
IMP: Inferred from mutant phenotype
24302765 MGI
acts upstream of or within negative regulation of phagocytosis IMP
IMP: Inferred from mutant phenotype
18276788 MGI
acts upstream of or within negative regulation of protein catabolic process IMP
IMP: Inferred from mutant phenotype
20724702 MGI
acts upstream of or within negative regulation of protein polyubiquitination IMP
IMP: Inferred from mutant phenotype
20724702 MGI
acts upstream of or within plasma membrane repair IDA
IDA: Inferred from direct assay
14506282 MGI
involved in plasma membrane repair IMP
IMP: Inferred from mutant phenotype
12736685 MGI
acts upstream of or within positive regulation of cell adhesion IMP
IMP: Inferred from mutant phenotype
20724702 MGI
acts upstream of or within positive regulation of endothelial cell proliferation IMP
IMP: Inferred from mutant phenotype
20724702 MGI
acts upstream of or within positive regulation of neutrophil chemotaxis IMP
IMP: Inferred from mutant phenotype
19286669 MGI
acts upstream of protein catabolic process IMP
IMP: Inferred from mutant phenotype
20724702 MGI
acts upstream of protein polyubiquitination IMP
IMP: Inferred from mutant phenotype
20724702 MGI
acts upstream of or within regulation of calcium ion import IMP
IMP: Inferred from mutant phenotype
24302765 MGI
acts upstream of or within skeletal muscle tissue regeneration IMP
IMP: Inferred from mutant phenotype
19286669 MGI
involved in vesicle fusion IMP
IMP: Inferred from mutant phenotype
12736685 MGI
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
20724702 MGI
located in T-tubule IDA
IDA: Inferred from direct assay
16319126 MGI
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
12736685 MGI
located in lamellipodium IDA
IDA: Inferred from direct assay
18325335 MGI
located in membrane microdomain IDA
IDA: Inferred from direct assay
20724702 MGI
located in microtubule IDA
IDA: Inferred from direct assay
20405035 MGI
located in nucleus IDA
IDA: Inferred from direct assay
20724702 MGI
located in plasma membrane IDA
IDA: Inferred from direct assay
20724702 MGI
located in sarcolemma IDA
IDA: Inferred from direct assay
12736685 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

dysferlin

  • dysferlin_a

  • dystrophy-associated fer-1-like protein

  • fer-1-like protein 1

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04105 DYSF Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20722 Dysf Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27234 Dysf Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Dysf NCBI NCBI:8291