| Gene Information | |
|---|---|
| Gene Name | DYSF |
| Organism | Homo sapiens (Human) |
| Gene Length | 2080 |
| Protein Names | Dysferlin (Dystrophy-associated fer-1-like protein) (Fer-1-like protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000135636 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | O75923 |
| Gene Card | DYSF |
| Uniprot ID | O75923 |
| Pfam | PF00168; PF08165; PF08150; PF08151; PF16165 |
| In ASD | no |
| Allosteric Prediction | no (-0.192763009) |
| Ortholog in Animals | Alpaca_ DYSF ( ortholog_one2one ) Dog_ DYSF ( ortholog_one2one ) GuineaPig_ DYSF ( ortholog_one2one ) Macaque_ DYSF ( ortholog_one2one ) Mouse_ Dysf ( ortholog_one2one ) Pig_ DYSF ( ortholog_one2one ) Rat_ Dysf ( ortholog_one2one ) Rabbit_ DYSF ( ortholog_one2one ) |
| Ohnologs | FER1L4, MYOF, FER1L6 |
| Paralogs | OTOF, FER1L5, MYOF, FER1L6 |
| Tissue | NA |
| Tissue Specificity | Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas. {ECO:0000269|PubMed:10196375, ECO:0000269|PubMed:11532985, ECO:0000269|PubMed:11959863, ECO:0000269|PubMed:15318348, ECO:0000269|PubMed:16896923, ECO:0000269|PubMed:17185750, ECO:0000269|PubMed:17363620, ECO:0000269|PubMed:17554076, ECO:0000269|PubMed:24239457}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4CAH (X-ray 1.90A ) 4CAI (X-ray 2.20A ) 4IHB (X-ray 2.04A ) 4IQH (X-ray 1.76A ) 7JOF (X-ray 2.00A ) 7K6B (NMR - ) 7KRB (NMR - ) |
| DBSNP | rs1553508863 rs121908957 rs772008300 rs200970855 rs34999029 rs13407355 rs141497053 rs149827237 rs1553522164 rs1258728780 rs121908963 rs121908963 rs766891289 rs150724610 rs886042389 rs886042093 rs121908962 rs377735262 rs201049092 rs886043900 rs121908960 rs121908956 rs748636047 rs34671418 rs727503910 rs202218890 rs28937581 rs34211915 rs150877497 rs144598063 rs121908958 rs34660230 rs59915619 rs148858485 rs2303603 rs121908954 rs145401010 rs61742872 rs758993965 rs757917335 rs139529811 rs776472879 rs757820496 rs76086153 rs185596534 rs753279446 rs779987458 rs863225021 rs121908961 rs746243052 rs398123794 rs1131692158 rs199601326 rs1057521141 rs115407852 rs121908955 rs149732545 |
| Subcellular location [CC] | Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cell membrane. Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites (By similarity). {ECO:0000250}. |
| Mouse PG classification | HPG |
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