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

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: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (7522624..7534009)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (7523360..7534743)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (7587510..7598895)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Activation of the TRPML1 Ion Channel Induces Proton Secretion in the Human Gastric Parietal Cell Line HGT-1.
Title: Activation of the TRPML1 Ion Channel Induces Proton Secretion in the Human Gastric Parietal Cell Line HGT-1.
TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells.
Title: TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells.
INPP4B promotes PDAC aggressiveness via PIKfyve and TRPML-1-mediated lysosomal exocytosis.
Title: INPP4B promotes PDAC aggressiveness via PIKfyve and TRPML-1-mediated lysosomal exocytosis.
TRPML1 triggers ferroptosis defense and is a potential therapeutic target in AKT-hyperactivated cancer.
Title: TRPML1 triggers ferroptosis defense and is a potential therapeutic target in AKT-hyperactivated cancer.
Transient receptor potential mucolipin 1 circumvents oxidative stress in primary human melanocytes.
Title: Transient receptor potential mucolipin 1 circumvents oxidative stress in primary human melanocytes.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (85)

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	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

RH93812 (e-PCR)
- UniSTS:86380

RH91529 (e-PCR)
- UniSTS:89489

RH68764 (e-PCR)
- UniSTS:7356

RH80512 (e-PCR)
- UniSTS:87491

PMC88885P1 (e-PCR)
- UniSTS:273608

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 more info	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

NG_015806.1 RefSeqGene

Range

5015..16400

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)