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]