Sequence Detail

ID/Version

Q8R4F0 Q8CDB2 Q8BS73 Q8BSG1 (UniProt | EBI)

Last sequence update: 2002-06-01
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=Mucolipin-3;AltName: Full=Transient receptor potential channel mucolipin 3; Short=TRPML3;

Provider

SWISS-PROT

Sequence

Polypeptide 553 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Mcoln3	mucolipin 3	16	98	4	13

Sequence references in MGI

J:80336 Di Palma F, et al., Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14994-9
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:127446 Xu H, et al., Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18321-6
J:128490 Grimm C, et al., A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19583-8
J:167711 Jors S, et al., Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice. PLoS One. 2010;5(12):e14317
J:176565 van Aken AF, et al., TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice. J Physiol. 2008 Nov 15;586(Pt 22):5403-18