Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
TRPML1
mucolipin-1 |
| gptkbp:associatedWith |
gptkb:mucolipidosis_type_IV
|
| gptkbp:discoveredIn |
2000
|
| gptkbp:encodes |
mucolipin-1 protein
|
| gptkbp:Entrez_Gene_ID |
28955
|
| gptkbp:expressedIn |
lysosome membrane
|
| gptkbp:function |
cation transport
lysosomal ion channel |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
13374
|
| https://www.w3.org/2000/01/rdf-schema#label |
MCOLN1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
19p13.2-p13.3 |
| gptkbp:mutationAssociatedWith |
causes mucolipidosis type IV
|
| gptkbp:OMIM |
605248
|
| gptkbp:orthologInMouse |
Mcoln1
|
| gptkbp:orthologInZebrafish |
mcoln1a
|
| gptkbp:proteinFamily |
gptkb:TRPML_family
|
| gptkbp:UniProtID |
Q9GZU1
|
| gptkbp:bfsParent |
gptkb:mucolipidosis_type_IV
|
| gptkbp:bfsLayer |
7
|