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MCOLN1 mucolipin 1 [ Homo sapiens (human) ]

Gene ID: 57192, updated on 17-Jun-2019

Summary

Official Symbol
MCOLN1provided by HGNC
Official Full Name
mucolipin 1provided by HGNC
Primary source
HGNC:HGNC:13356
See related
Ensembl:ENSG00000090674 MIM:605248
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; 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

Genomic context

See MCOLN1 in Genome Data Viewer
Location:
19p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7522624..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 Sharpr-MPRA regulatory region 11228 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

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 FunctionsWhat'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 BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PNPLA6

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAADP-sensitive calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cation channel activity NAS
Non-traceable Author Statement
more info
PubMed 
intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
iron ion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
ligand-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
autophagosome maturation IEA
Inferred from Electronic Annotation
more info
 
calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
cation transport NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to pH ISS
Inferred from Sequence or Structural Similarity
more info
 
iron ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
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
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic cup IEA
Inferred from Electronic Annotation
more info
 
phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_020533.3NP_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
    Q9GZU1
    Related
    ENSP00000264079.5, ENST00000264079.11
    Conserved Domains (1) summary
    cl27887
    Location:388524
    PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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