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
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberration ...
. 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.
It is important in lysosome function and plays a part in processes such as
vesicular trafficking,
exocytosis
Exocytosis () is a form of active transport and bulk transport in which a cell transports molecules (e.g., neurotransmitters and proteins) out of the cell ('' exo-'' + ''cytosis''). As an active transport mechanism, exocytosis requires the use o ...
and
autophagy
Autophagy (or autophagocytosis; from the Ancient Greek , , meaning "self-devouring" and , , meaning "hollow") is the natural, conserved degradation of the cell that removes unnecessary or dysfunctional components through a lysosome-dependent re ...
.
Ligands
;Agonists
*
ML-SA1
*
MK6-83
MK6-83 is a chemical compound which acts as a channel opener for the TRPML family of calcium channels, with moderate selectivity for TRPML1 over the related TRPML2 and TRPML3 subtypes.
See also
* ML-SI3
* ML2-SA1
* SN-2
SN-2 is a chemical ...
See also
* transient receptor potential cation channel, mucolipin subfamily, member 2 (
MCOLN2
Mucolipin-2 also known as TRPML2 (transient receptor potential cation channel, mucolipin subfamily, member 2) is a protein that in humans is encoded by the ''MCOLN2'' gene. It is a member of the small family of the TRPML channels, a subgroup of t ...
)
* transient receptor potential cation channel, mucolipin subfamily, member 3 (
MCOLN3
Mucolipin-3 also known as TRPML3 (transient receptor potential cation channel, mucolipin subfamily, member 3) is a protein that in humans is encoded by the ''MCOLN3'' gene. It is a member of the small family of the TRPML channels, a subgroup of t ...
)
*
mucolipidosis type IV
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberration ...
*
TRPML
References
External links
GeneReviews/NIH/NCBI/UW entry on Mucolipidosis IV*
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