| Gene Symbol |
MCOLN1
|
| Entrez Gene |
57192
|
| Alt Symbol |
MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
mucolipin 1
|
| Other Description |
mucolipidin|mucolipidosis type IV protein|mucolipin-1
|
| Swissprots |
Q7Z4F7 D6W647 Q9H4B3 Q9H292 Q9GZU1 Q9H4B5
|
| Accessions |
AAG00798 AAG42242 EAW69031 EAW69032 EAW69033 EAW69034 Q9GZU1 AA831948 AF171088 AAQ13604 AF249319 AAG10422 AF287269 AAG00797 AJ293659 CAC07813 AJ293970 CAC08215 AK026102 BAB15360 AK222673 BAD96393 AK294330 BAG57602 AK310109 BC005149 AAH05149 DC356874 DQ891844 ABM82770 DQ895032 ABM85958 NM_020533 NP_065394
|
| Function |
Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. {ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:14749347}.
|
| Subcellular Location |
Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
|
| Tissue Specificity |
Widely expressed in adult and fetal tissues. {ECO:0000269|PubMed:10973263, ECO:0000269|PubMed:11013137, ECO:0000269|PubMed:11030752}.
|
| Top Pathways |
Lysosome
|