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    Mcoln1 mucolipin 1 [ Mus musculus (house mouse) ]

    Gene ID: 94178, updated on 9-Dec-2024

    Summary

    Official Symbol
    Mcoln1provided by MGI
    Official Full Name
    mucolipin 1provided by MGI
    Primary source
    MGI:MGI:1890498
    See related
    Ensembl:ENSMUSG00000004567 AllianceGenome:MGI:1890498
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    TRPML1; mucolipidin; 2210015I05Rik
    Summary
    Enables iron ion transmembrane transporter activity and monoatomic ion 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 Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 109.5), ovary adult (RPKM 65.5) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Mcoln1 in Genome Data Viewer
    Location:
    8 A1.1; 8 1.92 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (3550458..3565232)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (3500519..3515232)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10487 Neighboring gene peroxisomal biogenesis factor 11 gamma Neighboring gene stabilizer of axonemal microtubules 5 Neighboring gene zinc finger protein 358 Neighboring gene STARR-positive B cell enhancer ABC_E2258 Neighboring gene patatin-like phospholipase domain containing 6 Neighboring gene STARR-seq mESC enhancer starr_20589 Neighboring gene STARR-seq mESC enhancer starr_20590 Neighboring gene STARR-seq mESC enhancer starr_20592 Neighboring gene ribosomal protein S23, retrogene 1 Neighboring gene ribosomal protein S23, pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    General gene information

    Clone Names

    • MGC7172

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables NAADP-sensitive calcium-release channel activity  
    enables NAADP-sensitive calcium-release channel activity  
    enables NAADP-sensitive calcium-release channel activity  
    enables calcium channel activity PubMed 
    enables calcium channel activity  
    enables identical protein binding  
    enables identical protein binding  
    enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity PubMed 
    enables iron ion transmembrane transporter activity PubMed 
    enables iron ion transmembrane transporter activity  
    enables ligand-gated calcium channel activity  
    enables lipid binding  
    enables monoatomic anion channel activity PubMed 
    enables monoatomic cation channel activity PubMed 
    enables potassium channel activity PubMed 
    enables protein binding PubMed 
    enables sodium channel activity PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response  
    acts_upstream_of_or_within autophagosome maturation PubMed 
    involved_in calcium ion export  
    involved_in calcium ion export  
    involved_in calcium ion transmembrane transport  
    involved_in calcium-mediated signaling  
    involved_in cellular response to calcium ion PubMed 
    involved_in cellular response to pH PubMed 
    acts_upstream_of_or_within endosomal transport PubMed 
    involved_in iron ion transmembrane transport PubMed 
    involved_in iron ion transmembrane transport  
    involved_in monoatomic anion transmembrane transport  
    involved_in monoatomic cation transmembrane transport PubMed 
    involved_in phagosome maturation PubMed 
    involved_in phagosome maturation  
    involved_in positive regulation of lysosome organization  
    involved_in positive regulation of lysosome organization  
    involved_in potassium ion transmembrane transport  
    involved_in protein homotetramerization PubMed 
    involved_in protein homotetramerization  
    involved_in release of sequestered calcium ion into cytosol  
    involved_in release of sequestered calcium ion into cytosol  
    involved_in sodium ion transmembrane transport  
    Items 1 - 20 of 22
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    located_in Golgi apparatus  
    located_in cell projection  
    located_in intracellular membrane-bounded organelle  
    is_active_in intracellular vesicle PubMed 
    located_in late endosome PubMed 
    located_in late endosome  
    located_in late endosome membrane  
    is_active_in lysosomal membrane  
    is_active_in lysosomal membrane  
    located_in lysosomal membrane  
    is_active_in lysosomal membrane  
    located_in lysosome  
    located_in lysosome  
    located_in membrane PubMed 
    located_in membrane PubMed 
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in phagocytic cup  
    located_in phagocytic vesicle membrane  
    is_active_in plasma membrane  
    part_of receptor complex PubMed 
    Items 1 - 20 of 22

    General protein information

    Preferred Names
    mucolipin-1
    Names
    transient receptor potential-mucolipin 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_053177.1NP_444407.1  mucolipin-1

      See identical proteins and their annotated locations for NP_444407.1

      Status: VALIDATED

      Source sequence(s)
      BC005651
      Consensus CDS
      CCDS22063.1
      UniProtKB/Swiss-Prot
      Q99J21
      Related
      ENSMUSP00000004683.7, ENSMUST00000004683.13
      Conserved Domains (2) summary
      pfam08016
      Location:388524
      PKD_channel; Polycystin cation channel
      cd21070
      Location:112292
      ELD_TRPML1; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipin 1 (TRPML1)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      3550458..3565232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004934904.1 RNA Sequence

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