mucolipin-1; MG-2; mucolipidin (MCOLN1 ML4 MSTP080)

Function

• cation channel
• prpbably plays a role in the endocytic pathway & in control of membrane trafficking of proteins & lipids
• may play role in Ca+2 transport regulating lysosomal exocytosis
• channel function is transiently modulated by changes in Ca+2, & inhibited by a reduction of pH
  • pH changes modify the aggregation state of unitary channels
• forms multimeric complexes

Structure

• belongs to the transient receptor (TC 1.A.4) family polycystin subfamily, MCOLN1 sub-subfamily

Compartment

• cell membrane
• late endosome membrane
• lysosome membrane
• multi-pass membrane protein

Alternative splicing

named isoforms=2

Expression

widely expressed in adult & fetal tissues

Pathology

• defects in MCOLN1 are the cause of mucolipidosis type 4

More general terms

• mucolipin
• transmembrane 6 protein
• phosphoprotein

Additional terms

• mucolipidosis

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=57192
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57192
• OMIM: https://mirror.omim.org/entry/252650
• OMIM: https://mirror.omim.org/entry/605248
• UniProt: http://www.uniprot.org/uniprot/Q9GZU1.html