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MCOLN1 mucolipin 1 [ Homo sapiens (human) ]

Gene ID: 57192, updated on 19-Jul-2014
Official Symbol
MCOLN1provided by HGNC
Official Full Name
mucolipin 1provided by HGNC
Primary source
HGNC:13356
Locus tag
MSTP080
See related
Ensembl:ENSG00000090674; HPRD:05582; 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]
See MCOLN1 in Epigenomics, MapViewer
Location:
19p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 chromosome 19 open reading frame 45 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

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
 
cation channel activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
cation transport NAS
Non-traceable Author Statement
more info
PubMed 
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
release of sequestered calcium ion into cytosol IEA
Inferred from Electronic Annotation
more info
 
transferrin transport TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm 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
 
Preferred Names
mucolipin-1
Names
mucolipin-1
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 

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

mRNA and Protein(s)

  1. NM_020533.2NP_065394.1  mucolipin-1

    See proteins identical to NP_065394.1

    Status: REVIEWED

    Source sequence(s)
    AA831948, BC005149, DC356874
    Consensus CDS
    CCDS12180.1
    UniProtKB/Swiss-Prot
    Q9GZU1
    Related
    ENSP00000264079, OTTHUMP00000268202, ENST00000264079, OTTHUMT00000458974
    Conserved Domains (1) summary
    pfam08016
    Location:306524
    Blast Score: 135
    PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

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

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    7258672..7270051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

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