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

Gene ID: 57192, updated on 11-Apr-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A Structural Overview of TRPML1 and the TRPML Family. Fine M, et al. Handb Exp Pharmacol, 2023. PMID 35879577
  2. TRPML1-induced autophagy inhibition triggers mitochondrial mediated apoptosis. Liu Y, et al. Cancer Lett, 2022 Aug 10. PMID 35644286
  3. Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect. Al-Alawi B, et al. Genes (Basel), 2022 Jan 28. PMID 35205297, Free PMC Article
  4. Autophagy inhibition mediated by MCOLN1/TRPML1 suppresses cancer metastasis via regulating a ROS-driven TP53/p53 pathway. Xing Y, et al. Autophagy, 2022 Aug. PMID 34878954, Free PMC Article
  5. Estradiol analogs attenuate autophagy, cell migration and invasion by direct and selective inhibition of TRPML1, independent of estrogen receptors. RĂĽhl P, et al. Sci Rep, 2021 Apr 15. PMID 33859333, Free PMC Article

See all (113) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. UBA6 Inhibition Accelerates Lysosomal TRPML1 Depletion and Exosomal Secretion in Lung Cancer Cells.
    Title: UBA6 Inhibition Accelerates Lysosomal TRPML1 Depletion and Exosomal Secretion in Lung Cancer Cells.
  2. Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
    Title: Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
  3. Endolysosomal TRPML1 channel regulates cancer cell migration by altering intracellular trafficking of E-cadherin and beta1-integrin.
    Title: Endolysosomal TRPML1 channel regulates cancer cell migration by altering intracellular trafficking of E-cadherin and β(1)-integrin.
  4. Modulation of Cisplatin Sensitivity through TRPML1-Mediated Lysosomal Exocytosis in Ovarian Cancer Cells: A Comprehensive Metabolomic Approach.
    Title: Modulation of Cisplatin Sensitivity through TRPML1-Mediated Lysosomal Exocytosis in Ovarian Cancer Cells: A Comprehensive Metabolomic Approach.
  5. Ezrin inhibition alleviates oxidative stress and pyroptosis via regulating TRPML1-calcineurin axis mediated enhancement of autophagy in spinal cord injury.
    Title: Ezrin inhibition alleviates oxidative stress and pyroptosis via regulating TRPML1-calcineurin axis mediated enhancement of autophagy in spinal cord injury.
  6. The Lysosomal Calcium Channel TRPML1 Maintains Mitochondrial Fitness in NK Cells through Interorganelle Cross-Talk.
    Title: The Lysosomal Calcium Channel TRPML1 Maintains Mitochondrial Fitness in NK Cells through Interorganelle Cross-Talk.
  7. Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
    Title: Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
  8. Modulation of Lysosomal Cl[-] Mediates Migration and Apoptosis through the TRPML1 as a Lysosomal Cl[-] Sensor.
    Title: Modulation of Lysosomal Cl(-) Mediates Migration and Apoptosis through the TRPML1 as a Lysosomal Cl(-) Sensor.
  9. TRPML1 and TFEB, an Intimate Affair.
    Title: TRPML1 and TFEB, an Intimate Affair.
  10. A Structural Overview of TRPML1 and the TRPML Family.
    Title: A Structural Overview of TRPML1 and the TRPML Family.
Submit: New GeneRIF Correction See all GeneRIFs (80)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Lisch epithelial corneal dystrophy
MedGen: C2749050 OMIM: 620763 GeneReviews: Not available
not available
Mucolipidosis type IV
MedGen: C0238286 OMIM: 252650 GeneReviews: Mucolipidosis IV
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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 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 cation channel activity NAS
Non-traceable Author Statement
more info
 PubMed 
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 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 IEA
Inferred from Electronic Annotation
more info
  
involved_in localization IDA
Inferred from Direct Assay
more info
 PubMed 
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 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 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

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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)

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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_020533.3 → NP_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:388 → 524
    PKD_channel; Polycystin cation channel
    cd21070
    Location:112 → 292
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZU1.1 GenPept UniProtKB/Swiss-Prot:Q9GZU1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
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