Version 5.4
Homo sapiens Gene: MCOLN1
Summary
InnateDB Gene IDBG-22851.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MCOLN1
Gene Name mucolipin 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000090674
Encoded Proteins
IDBP-22853
mucolipin 1
IDBP-761289
IDBP-760639
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:7522626-7534009
Strand Forward strand
Band p13.2
Transcripts
ENST00000264079 ENSP00000264079
ENST00000394321
ENST00000594692
ENST00000601003 ENSP00000469074
ENST00000596008
ENST00000602227
ENST00000596390
ENST00000598406
ENST00000595860
ENST00000599334 ENSP00000472176
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005261 cation channel activity
GO:0072345 NAADP-sensitive calcium-release channel activity
Biological Process
GO:0006812 cation transport
GO:0006879 cellular iron ion homeostasis
GO:0033572 transferrin transport
GO:0034220 ion transmembrane transport
GO:0051209 release of sequestered calcium ion into cytosol
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
GO:0031902 late endosome membrane
GO:0043235 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000004567
View Gene Order
ENSBTAG00000005592
Not yet available
Pathways
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_25283
Transferrin endocytosis and recycling pathway
REACT_25060
Iron uptake and transport pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
REACT_169333
TRP channels pathway
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.631858
RefSeq NM_020533
HUGO
OMIM
CCDS CCDS12180
HPRD 05582
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca