| UniProt ID | CAV3_HUMAN | |
|---|---|---|
| UniProt AC | P56539 | |
| Protein Name | Caveolin-3 | |
| Gene Name | CAV3 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 151 | |
| Subcellular Localization |
Golgi apparatus membrane Peripheral membrane protein. Cell membrane Peripheral membrane protein. Membrane, caveola Peripheral membrane protein. Cell membrane, sarcolemma . Potential hairpin-like structure in the membrane. Membrane protein of cav |
|
| Protein Description | May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae. [PubMed: 19262564] | |
| Protein Sequence | MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of CAV3_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of CAV3_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of CAV3_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00567 | Caveolinopathies, including: Limb-girdle muscular dystrophy (LGMD) 1C; Rippling muscle disease (RMD) | |||||
| H00593 | Limb-girdle muscular dystrophy (LGMD) | |||||
| H00720 | Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS) | |||||
| OMIM Disease | ||||||
| 607801 | Limb-girdle muscular dystrophy 1C (LGMD1C) | |||||
| 123320 | HyperCKmia (HYPCK) | |||||
| 606072 | Rippling muscle disease (RMD) | |||||
| 192600 | Cardiomyopathy, familial hypertrophic (CMH) | |||||
| 611818 | Long QT syndrome 9 (LQT9) | |||||
| 272120 | Sudden infant death syndrome (SIDS) | |||||
| 614321 | Myopathy, distal, Tateyama type (MPDT) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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