| URN | urn:agi-llid:50961 |
|---|---|
| Connectivity | 31 |
| Name | Mcoln1 |
| Description | mucolipin 1 |
| Notes | This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq] |
| Pathway | calcium transport pathway |
|---|---|
| calcium/calcium-mediated signaling pathway | |
| calcium-calcium-mediated signaling pathway | |
| calcium-calcium-mediated signaling pathway |
| GO Molecular Function | catalytic activity |
|---|---|
| calcium ion binding | |
| ion channel activity | |
| cation channel activity |
| GO Cellular Component | membrane |
|---|---|
| plasma membrane | |
| endosome | |
| late endosome | |
| lysosomal membrane | |
| lysosome | |
| late endosome membrane | |
| integral to membrane | |
| integral to plasma membrane |
| GO Biological Process | transport |
|---|---|
| endosome transport | |
| ion transport | |
| cation transport | |
| calcium ion transport |
| Group | catalytic activity |
|---|---|
| transport | |
| endosome transport | |
| ion transport | |
| cation transport | |
| calcium ion transport | |
| calcium ion binding | |
| ion channel activity | |
| cation channel activity | |
| membrane | |
| plasma membrane | |
| endosome | |
| late endosome | |
| lysosomal membrane | |
| lysosome | |
| late endosome membrane | |
| integral to membrane | |
| integral to plasma membrane |
| MedScan ID | 50961 |
|---|
| Hugo ID | 13356 |
|---|
| Human chromosome position | 19p13.3-p13.2 |
|---|
| LocusLink ID | 50961 |
|---|---|
| 57192 | |
| 94178 | |
| 288371 |
| Alias | ML4 |
|---|---|
| MLIV | |
| MST080 | |
| TRPML1 | |
| MSTP080 | |
| TRP-ML1 | |
| TRPM-L1 | |
| mucolipin-1 | |
| MG-2 | |
| mucolipidin | |
| mucolipidosis type IV protein | |
| MGC7172 | |
| 2210015I05Rik | |
| 2210015I05 | |
| MCOLN I | |
| MCOLN1 | |
| MLIV gene | |
| MLIV protein | |
| mucolipidosis iv gene | |
| mucolipidosis iv protein | |
| mucolipin 1 | |
| mucolipin I |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605248 |
|---|---|
| 252650 |
| Mouse chromosome position | 8 1.1 cM |
|---|
| GO ID | 0005261 |
|---|---|
| 0006816 | |
| 0006812 | |
| 0005768 | |
| 0016021 | |
| 0005887 | |
| 0031902 | |
| 0005765 | |
| 0005886 | |
| 0005216 | |
| 0016197 | |
| 0006811 | |
| 0006810 | |
| 0005770 | |
| 0005764 | |
| 0016020 | |
| 0003824 | |
| 0005509 |
| Rat chromosome position | 12p12 |
|---|
| Swiss-Prot Accession | Q9GZU1 |
|---|---|
| Q53HA8 | |
| Q99J21 | |
| Q7Z4F7 | |
| Q9H292 | |
| Q9H4B3 | |
| Q9H4B5 |
| Unigene ID | Hs.631858 |
|---|---|
| Mm.8356 | |
| Rn.106454 |
| KEGG ID | hsa:57192 |
|---|---|
| mmu:94178 | |
| rno:288371 |
| Swiss-Prot ID | MCLN1_HUMAN |
|---|---|
| MCLN1_MOUSE |
| Cell Localization | Cell membrane |
|---|---|
| Late endosome membrane | |
| Lysosome membrane |
| IPI ID | IPI00003750 |
|---|---|
| IPI00452161 | |
| IPI00114839 | |
| IPI00453501 | |
| IPI00880444 | |
| IPI00370827 | |
| IPI00558574 |
| Homologene ID | 10744 |
|---|
| RGD ID | 1308953 |
|---|
| MGI ID | 1890498 |
|---|