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MGP005613

UniProt Annotations

Entry Information
Gene Namemucolipin 1
Protein EntryMCLN1_HUMAN
UniProt IDQ9GZU1
SpeciesHuman
Comments
Comment typeDescription
DiseaseMucolipidosis type IV (MLIV) [MIM:252650]: Autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews. {ECO:0000269|PubMed:11030752, ECO:0000269|PubMed:11317355, ECO:0000269|PubMed:12182165, ECO:0000269|PubMed:15523648}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationChannel function is transiently modulated by changes in Ca(2+), and inhibited by a reduction of pH; pH changes modify the aggregation state of unitary channels.
FunctionCation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. {ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:14749347}.
Sequence CautionSequence=AAQ13604.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC07813.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=EAW69031.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW69034.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily. {ECO:0000305}.
Subcellular LocationCell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
SubunitForms multimeric complexes. Interacts with PDCD6. {ECO:0000269|PubMed:14749347, ECO:0000269|PubMed:19864416}.
Tissue SpecificityWidely expressed in adult and fetal tissues. {ECO:0000269|PubMed:10973263, ECO:0000269|PubMed:11013137, ECO:0000269|PubMed:11030752}.
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