MCOLN3

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]

Description

Mucolipin 3

Tissue specificity

Group enriched (adrenal gland, epididymis, parathyroid gland)

Subcell location

Nucleoli, Cytosol

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

1 (85018082 - 85048500)

Ensembl ID

ENSG00000055732  (ver. 103.38)

Orthologs

Mouse Mcoln3: ENSMUSG00000036853

UniProt

Q8TDD5

neXtProt

NX_Q8TDD5

Human splice variants
Mouse splice variants

Protein structure