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    MCOLN1 mucolipin 1 [ Homo sapiens (human) ]

    Gene ID: 57192, updated on 11-Jun-2017
    Official Symbol
    MCOLN1provided by HGNC
    Official Full Name
    mucolipin 1provided by HGNC
    Primary source
    HGNC:HGNC:13356
    See related
    Ensembl:ENSG00000090674 MIM:605248; Vega:OTTHUMG00000182046
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1
    Summary
    This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    19p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (7522610..7534009)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7587496..7598895)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene testis expressed 45 Neighboring gene uncharacterized LOC105372261 Neighboring gene zinc finger protein 358 Neighboring gene patatin like phospholipase domain containing 6 Neighboring gene calmodulin regulated spectrin associated protein family member 3 Neighboring gene microRNA 6792

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Iron metabolism in placenta, organism-specific biosystem (from WikiPathways)
      Iron metabolism in placenta, organism-specific biosystemDuring pregnancy, iron is transported from mother to fetus across the placenta. Iron is essential for many biological processes, including the transfer of oxygen in blood, but it can also be toxic. E...
    • Iron uptake and transport, organism-specific biosystem (from REACTOME)
      Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • TRP channels, organism-specific biosystem (from REACTOME)
      TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
    • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
      Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: PNPLA6

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NAADP-sensitive calcium-release channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    calcium channel activity TAS
    Traceable Author Statement
    more info
     
    cation channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    iron ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    autophagosome maturation IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    cation transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    iron ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    transferrin transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    mucolipin-1
    Names
    mucolipidin
    mucolipidosis type IV protein

    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.

    Genomic

    1. NG_015806.1 RefSeqGene

      Range
      5001..16400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020533.2NP_065394.1  mucolipin-1

      See identical proteins and their annotated locations for NP_065394.1

      Status: REVIEWED

      Source sequence(s)
      AA831948, BC005149, DC356874
      Consensus CDS
      CCDS12180.1
      UniProtKB/Swiss-Prot
      Q9GZU1
      Related
      ENSP00000264079.5, OTTHUMP00000268202, ENST00000264079.10, OTTHUMT00000458974
      Conserved Domains (1) summary
      pfam08016
      Location:388524
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      7522610..7534009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      7587414..7598813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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