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Protein Coding Gene : Mcoln1 mucolipin 1

Primary Identifier  MGI:1890498 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  94178
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 5.4.0)

Enables intracellular phosphatidylinositol-3,5-bisphosphate-sensitive monatomic cation channel activity. Involved in several processes, including cellular response to calcium ion; cellular response to pH; and protein homotetramerization. Acts upstream of or within autophagosome maturation. Located in membrane. Is active in intracellular vesicle. Is expressed in several structures, including cochlea; genitourinary system; liver; lung; and spleen. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1).
PHENOTYPE: Mice homozygous for a null allele exhibit premature death around 8 months of age preceeded by weight loss, weakness, lethargy, bladder and stomach distension, and retinal degradation. [provided by MGI curators]
  • synonyms:
  • Mcoln1,
  • 2210015I05Rik,
  • mucolipidin,
  • MGI:1919606,
  • RIKEN cDNA 2210015I05 gene,
  • TRPML1,
  • mucolipin 1

Features --> Cross References


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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features


Gene --> Proteins


Mouse features --> Functions (GO terms)


Genes --> Homologs


6 Pathways

37 Targeted By

Gene --> Protein-Protein Interactions


Gene --> Expression annotations


Genes/Features --> Phenotypes (MP terms)


Mouse features --> Human diseases


Mouse features --> Publications



0 Driver For