MCOLN1

MCOLN1
Identifiers
Aliases	MCOLN1, MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1, mucolipin 1, ML1, mucolipin TRP cation channel 1
External IDs	OMIM: 605248; MGI: 1890498; HomoloGene: 10744; GeneCards: MCOLN1; OMA:MCOLN1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.2 Start 7,522,624 bp[1] End 7,534,009 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A1.1|8 1.92 cM Start 3,550,457 bp[2] End 3,565,232 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen left adrenal gland pituitary gland stromal cell of endometrium anterior pituitary right lung upper lobe of left lung gastric mucosa monocyte prefrontal cortex Top expressed in superior frontal gyrus yolk sac lip cerebellar cortex proximal tubule lens interventricular septum neural tube facial motor nucleus duodenum More reference expression data BioGPS n/a
Gene ontology Molecular function cation channel activity NAADP-sensitive calcium-release channel activity iron ion transmembrane transporter activity calcium channel activity protein binding lipid binding intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity ligand-gated calcium channel activity Cellular component lysosomal membrane endosome membrane integral component of membrane integral component of plasma membrane membrane receptor complex endosome late endosome membrane plasma membrane cytosol phagocytic cup lysosome late endosome phagocytic vesicle membrane cytoplasmic vesicle cell projection cytoplasmic vesicle membrane Biological process calcium ion transport transferrin transport release of sequestered calcium ion into cytosol ion transport cation transport iron ion transmembrane transport autophagosome maturation calcium ion transmembrane transport transport adaptive immune response immune system process calcium-mediated signaling protein homotetramerization cellular response to calcium ion cellular response to pH cation transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57192 94178 Ensembl ENSG00000090674 ENSMUSG00000004567 UniProt Q9GZU1 Q99J21 RefSeq (mRNA) NM_020533 NM_053177 RefSeq (protein) NP_065394 NP_444407 Location (UCSC) Chr 19: 7.52 – 7.53 Mb Chr 8: 3.55 – 3.57 Mb PubMed search [3] [4]
Wikidata
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Mucolipin-1 also known as TRPML1 (transient receptor potential cation channel, mucolipin subfamily, member 1) is a protein that in humans is encoded by the MCOLN1 gene.^[5] It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.

TRPML1 is a 65 kDa protein associated with mucolipidosis type IV. Its predicted structure includes six transmembrane domains, a transient receptor potential (TRP) cation-channel domain, and an internal channel pore.^[6] TRPML1 is believed to channel iron ions across the endosome/lysosome membrane into the cell and so its malfunction causes cellular iron deficiency.^[7] It is important in lysosome function and plays a part in processes such as vesicular trafficking, exocytosis and autophagy.^[8][9]

Ligands

Agonists

• ML-SA1
• MK6-83^[10]

See also

• transient receptor potential cation channel, mucolipin subfamily, member 2 (MCOLN2)
• transient receptor potential cation channel, mucolipin subfamily, member 3 (MCOLN3)
• mucolipidosis type IV
• TRPML

References

External links

• GeneReviews/NIH/NCBI/UW entry on Mucolipidosis IV
• mucolipin-1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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