Gene Information
Gene NameMCOLN1
OrganismHomo sapiens (Human)
Gene Length580
Protein NamesMucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)
Target Namemucolipin-1
Target TypePreclinical target
Gene Age1064 ( ENSG00000090674 )
Evolutionary StageEukaryota
AlphaFoldDBQ9GZU1
Gene CardMCOLN1
Uniprot IDQ9GZU1
PfamPF08016
In ASDno
Allosteric Predictionyes (0.744777815)
Ortholog in AnimalsAlpaca_ MCOLN1 ( ortholog_one2one )
Dog_ MCOLN1 ( ortholog_one2one )
GuineaPig_ MCOLN1 ( ortholog_one2one )
Macaque_ MCOLN1 ( ortholog_one2one )
Mouse_ Mcoln1 ( ortholog_one2one )
Pig_ MCOLN1 ( ortholog_one2one )
Rat_ Mcoln1 ( ortholog_one2one )
Rabbit_ MCOLN1 ( ortholog_one2one )
OhnologsMCOLN3, MCOLN2
ParalogsMCOLN3, MCOLN2
TissueNA
Tissue SpecificityWidely expressed in adult and fetal tissues. {ECO:0000269|PubMed:10973263, ECO:0000269|PubMed:11013137, ECO:0000269|PubMed:11030752}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 5TJA  (X-ray  2.30A  )  5TJB  (X-ray  2.40A  )  5TJC  (X-ray  2.40A  )  5WJ5  (EM  3.70A  )  5WJ9  (EM  3.49A  )  6E7P  (EM  3.50A  )  6E7Y  (EM  3.57A  )  6E7Z  (EM  3.73A  )  7MGL  (EM  2.90A  ) 
DBSNP rs797044825  rs767122713  rs121908372  rs121908374  rs797044817  rs754097561  rs797044827  rs797044828 
Subcellular location [CC]Late endosome membrane {ECO:0000269|PubMed:15178326, ECO:0000269|PubMed:21224396};
Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Lysosome membrane {ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:21224396, ECO:0000305|PubMed:16497227, ECO:0000305|PubMed:16978393};
Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12459486};
Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:Q99J21}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q99J21};
Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cell membrane {ECO:0000305|PubMed:29019983};
Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Note=Delivery from the trans-Golgi to lysosomes seems to occur mainly in a direct intracellular manner without intermediate delivery to the plasma membrane (PubMed:16497227). Under normal conditions, restricted to intracellular compartments so that only a very minor proportion is present at the cell membrane (PubMed:12459486, PubMed:18794901, PubMed:28112729, PubMed:29019983). {ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:18794901, ECO:0000269|PubMed:28112729, ECO:0000269|PubMed:29019983, ECO:0000305|PubMed:16497227}.
Mouse PG classificationNA
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