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Genes
MCOLN1
Gene - MCOLN1
full name
mucolipin 1
synonyms
MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1, MCOLN1, ENSG00000090674
HGNC
HGNC:13356
Entrez Gene
Gene:57192
ENSEMBL
ENSG00000090674
location
chr: 19
start: 7587496
stop: 7598895
strand: +
OMIM
OMIM:605248
: MCOLN1
(Autosomal recessive inheritance)
OMIM:252650
: Mucolipidosis IV
transcripts
NM_020533.2
pathways
Ion channel transport
[NCBI:1269950]
[REACTOME:R-HSA-983712]
[PUBMED:15071553]
Iron uptake and transport
[NCBI:1269948]
[REACTOME:R-HSA-917937]
[PUBMED:20495089]
[PUBMED:19381358]
[PUBMED:18259769]
Lysosome
[NCBI:99052]
[KEGG:hsa04142]
[PUBMED:2943218]
[PUBMED:12628346]
[PUBMED:1883197]
[PUBMED:18635948]
[PUBMED:15987739]
Stimuli-sensing channels
[NCBI:1269953]
[REACTOME:R-HSA-2672351]
[PUBMED:15728426]
[PUBMED:16460286]
[PUBMED:12907679]
[PUBMED:18391176]
[PUBMED:19278523]
[PUBMED:11904445]
[PUBMED:22934072]
[PUBMED:20807551]
[PUBMED:19783045]
[PUBMED:16219661]
[PUBMED:21932071]
[PUBMED:22277752]
TRP channels
[NCBI:1269954]
[REACTOME:R-HSA-3295583]
[PUBMED:20716668]
[PUBMED:20347603]
[PUBMED:20025796]
[PUBMED:20127491]
Transferrin endocytosis and recycling
[NCBI:1269949]
[REACTOME:R-HSA-917977]
[PUBMED:2874839]
Transmembrane transport of small molecules
[NCBI:1269903]
[REACTOME:R-HSA-382551]