Gene table of MCOLN1 : mucolipin 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MCOLN1	OMIM link	Number of associated genes	genes
252650	MUCOLIPIDOSIS IV	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MCOLN1

Download the gene annotation in CSV format

Annotation of the gene MCOLN1

Associated genes in ENSEMBL

ENSG00000090674

Associated proteins - SwissProt Accession ID

Q9GZU1

Associated PDB IDs

Cytogenetic Band

19p13.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Lysosome	hsa04142	5.78

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
TRP channels	R-HSA-3295583	8.18
Ion channel transport	R-HSA-983712	5.34
Iron uptake and transport	R-HSA-917937	7.56
Transferrin endocytosis and recycling	R-HSA-917977	8.12
Transmembrane transport of small molecules	R-HSA-382551	3.79
Stimuli-sensing channels	R-HSA-2672351	6.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
signal transducer activity	GO:0004871	2.28
signaling receptor activity	GO:0038023	2.49
calcium ion transmembrane transporter activity	GO:0015085	4.89
calcium-release channel activity	GO:0015278	6.97
transition metal ion transmembrane transporter activity	GO:0046915	6.05
ligand-gated ion channel activity	GO:0015276	4.8
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
transmembrane transporter activity	GO:0022857	2.82
iron ion transmembrane transporter activity	GO:0005381	7.66
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
cation transmembrane transporter activity	GO:0008324	3.32
inorganic cation transmembrane transporter activity	GO:0022890	3.49
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
intracellular ligand-gated ion channel activity	GO:0005217	6.41
substrate-specific transmembrane transporter activity	GO:0022891	2.9
NAADP-sensitive calcium-release channel activity	GO:0072345	8.64
substrate-specific transporter activity	GO:0022892	2.72
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
ligand-gated channel activity	GO:0022834	4.8
ligand-gated calcium channel activity	GO:0099604	6.97
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53