Format

Send to:

Choose Destination

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

Gene ID: 57192, updated on 5-Jan-2022

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MCOLN1 in Genome Data Viewer
Location:
19p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7522624..7534009)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7587510..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 Sharpr-MPRA regulatory region 4105

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

Homology

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
PubMed 
enables calcium channel activity TAS
Traceable Author Statement
more info
 
enables cation channel activity NAS
Non-traceable Author Statement
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 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 cation transport NAS
Non-traceable Author Statement
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in phagosome maturation IDA
Inferred from Direct Assay
more info
PubMed 
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 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 integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
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
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
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
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
    Q9GZU1
    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: Homo sapiens Updated Annotation Release 109.20211119

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)
Support Center