MCOLN1

MCOLN1
Identifiers
Aliases	MCOLN1, MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1, mucolipin 1
External IDs	OMIM: 605248 MGI: 1890498 HomoloGene: 10744 GeneCards: MCOLN1
Gene ontology Molecular function • cation channel activity • NAADP-sensitive calcium-release channel activity • iron ion transmembrane transporter activity • calcium channel activity Cellular component • lysosomal membrane • endosome membrane • integral component of membrane • integral component of plasma membrane • membrane • receptor complex • lysosome • endosome • late endosome membrane • plasma membrane • cytosol Biological process • calcium ion transport • transferrin transport • release of sequestered calcium ion into cytosol • ion transport • transport • cation transport • iron ion transmembrane transport • autophagosome maturation • calcium ion 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_444407.1 NP_444407
Location (UCSC)	Chr 19: 7.52 – 7.53 Mb	Chr 8: 3.5 – 3.52 Mb
PubMed search

57192

94178

ENSG00000090674

ENSMUSG00000004567

Q9GZU1

Q99J21

NM_020533

NM_053177

NP_065394

NP_444407.1
NP_444407

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. 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. TRPML1 is believed to channel iron ions across the endosome/lysosome membrane into the cell and so its malfunction causes cellular iron deficiency.

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