Homo sapiens Gene: MCOLN3
Summary
InnateDB Gene IDBG-100021.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MCOLN3
Gene Name mucolipin 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000055732
Encoded Proteins
mucolipin 3
mucolipin 3
mucolipin 3
mucolipin 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:85018082-85048499
Strand Reverse strand
Band p22.3
Transcripts
ENST00000370589 ENSP00000359621
ENST00000341115 ENSP00000342698
ENST00000370587 ENSP00000359619
ENST00000474447
ENST00000490600 ENSP00000474024
ENST00000475312
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
Biological Process
GO:0007626 locomotory behavior
GO:0034220 ion transmembrane transport
GO:0042491 auditory receptor cell differentiation
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Stimuli-sensing channels pathway
Ion channel transport pathway
TRP channels pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL B1ANB7
UniProt Splice Variant
Entrez Gene 55283
UniGene Hs.535239
RefSeq NM_001253693 NM_018298 XM_005271003 XM_006710750 XM_006710751
HUGO HGNC:13358
OMIM 607400
CCDS CCDS58009 CCDS701
HPRD 09585
IMGT
EMBL AL358789 CH471097
GenPept EAW73218
RNA Seq Atlas 55283