Dysf - dysferlin Gene

Mus musculus

Also known as D6Pas3; 2310004N10Rik

Gene ID: 26903 | Gene type: protein coding

About Dysf

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	Reference	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	Reference	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	Reference	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

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

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