Version 5.4
Mus musculus Protein: Mcoln3
Summary
InnateDB Protein IDBP-198922.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mcoln3
Protein Name mucolipin 3
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000038801
InnateDB Gene IDBG-198920 (Mcoln3)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations Note=Defects in Mcoln3 are the cause of the varitin- waddler (Va) phenotype. Classical Va mice exhibit early-onset hearing loss, vestibular defects, pigmentation abnormalities and perinatal lethality. The phenotype varitin-waddler Jackcon (Va-J), which arose in a cross segregating for Va, is similar but less severe.
Tissue Specificity Expressed in the cochlea; particularly in the inner and outer hair cells. {ECO:0000269PubMed:12403827}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006811 ion transport
GO:0007626 locomotory behavior
GO:0042491 auditory receptor cell differentiation
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID MGI:1890500
InterPro IPR013122 Polycystin cation channel, PKD1/PKD2
PFAM PF08016
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8R4F0
PhosphoSite PhosphoSite-Q8R4F0
TrEMBL Q3KP78
UniProt Splice Variant
Entrez Gene 171166
UniGene Mm.470253
RefSeq NP_598921
MGI ID
MGI Symbol Mcoln3
OMIM
CCDS CCDS17900
HPRD
IMGT
EMBL AC161212 AF475086 AK030819 AK033008 AK035029 AY083531 BC106856 CH466532
GenPept AAI06857 AAL84623 AAM08924 BAC27146 BAC28123 BAC28916 EDL11983 EDL11984

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