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    MCOLN1 mucolipin TRP cation channel 1 [ Homo sapiens (human) ]

    Gene ID: 57192, updated on 2-May-2024

    Summary

    Official Symbol
    MCOLN1provided by HGNC
    Official Full Name
    mucolipin TRP cation channel 1provided by HGNC
    Primary source
    HGNC:HGNC:13356
    See related
    Ensembl:ENSG00000090674 MIM:605248; AllianceGenome:HGNC:13356
    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
    ML1; ML4; LECD; 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]
    Expression
    Ubiquitous expression in spleen (RPKM 28.6), adrenal (RPKM 14.9) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    19p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7522624..7534009)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7523360..7534743)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7587510..7598895)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9984 Neighboring gene Sharpr-MPRA regulatory region 11228 Neighboring gene stabilizer of axonemal microtubules 5 Neighboring gene uncharacterized LOC105372261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9986 Neighboring gene zinc finger protein 358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13887 Neighboring gene patatin like phospholipase domain containing 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7614843-7615534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7615535-7616226 Neighboring gene MPRA-validated peak3321 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7661728-7662333 Neighboring gene calmodulin regulated spectrin associated protein family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7669777-7670278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7670279-7670778 Neighboring gene microRNA 6792

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Exposure of macrophages to infectious or AT-2 inactivated HIV-1 increases expression of the TFEB targets ATG9B, UVRAG (both autophagy genes) and MCOLN1 (a lysosomal gene) at 24 hours post-exposure. PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PNPLA6

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAADP-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables iron ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iron ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables ligand-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables monoatomic anion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables monoatomic cation channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables potassium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sodium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagosome maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion export IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in iron ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoatomic anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic cation transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in phagosome maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lysosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transferrin transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane HDA PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in phagocytic cup IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mucolipin-1
    Names
    mucolipidin
    mucolipidosis type IV protein
    mucolipin 1
    transient receptor potential cation channel mucolipin subfamily member 1
    transient receptor potential channel mucolipin 1
    transient receptor potential mucolipin 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5015..16400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020533.3NP_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
      D6W647, Q7Z4F7, Q9GZU1, Q9H292, Q9H4B3, Q9H4B5
      UniProtKB/TrEMBL
      Q53HA8
      Related
      ENSP00000264079.5, ENST00000264079.11
      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_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7522624..7534009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7523360..7534743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)