MCOLN1 - mucolipin TRP cation channel 1 Gene

Homo sapiens

Also known as ML1; ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1

Gene ID: 57192 | Gene type: protein coding

About MCOLN1

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,522,624-7,534,009 (from NCBI)

This gene has 10 transcripts (splice variants), 273 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 28.6), adrenal (RPKM 14.9) and 24 other tissues.

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]

MCOLN1 Products(1)

mRNA	Protein	Name
NM_020533.3	NP_065394.1	mucolipin-1

MCOLN1 Protein Structure

PKD_channel

0
100
200
300
400
500
580 a.a.

Protein Preferred Names

Protein Names

mucolipin-1

mucolipidin

Related Diseases

Diseases

Alias

Mucolipidosis Iv

Mucolipidosis Type Iv	ML4
Sialolipidosis	Mucolipidosis Type 4
Ganglioside Sialidase Deficiency	Mliv
Ml Iv	Berman Syndrome
Ganglioside Neuraminidase Deficiency	Ml 4
Mucolipidosis 4	Type Iv Mucolipidosis
Gangliosidoses

Mucolipidosis

Mucolipidoses

Periventricular Leukomalacia

Leukomalacia, Periventricular	Pvl
Leukomalacia Periventricular

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

Retinal Degeneration

Degeneration Of Retina

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia	Yunis Varon Syndrome
YVS	Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia	Yunis-Varón Syndrome

Spondylometaphyseal Dysplasia, Kozlowski Type

Spondylometaphyseal Dysplasia Kozlowski Type	Jequier Kozlowski Skeletal Dysplasia
Smd Kozlowski Type	SMDK
Dysmorphism Arthrogryposis Skeletal Maturation Advanced	Jequier-Kozlowski Syndrome
Skeletal Dysplasia Jequier-Kozlowski Type	Smd, Kozlowski Type

Spondyloepiphyseal Dysplasia, Maroteaux Type

Spondyloepiphyseal Dysplasia Maroteaux Type	Pseudo-Morquio Syndrome Type 2
Sed, Maroteaux Type	Brachyolmia Type 2
Pseudo-Morquio Syndrome, Type 2	Spondyloepiphyseal Dysplasia Of Maroteaux
Brachyolmia Maroteaux Type	SEDM
Sed Maroteaux Type	Dysplasia, Spondyloepiphyseal, Maroteaux Type

Charcot-Marie-Tooth Disease, Type 4j

Charcot-Marie-Tooth Disease Type 4j	CMT4J
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j	Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
Charcot-Marie-Tooth Disease 4j

Psoriasis 13

PSORS13	Psoriasis 13, Susceptibility To
Psoriasis	Psoriasis Vulgaris
Psoriasis Susceptibility 13	Pv
Psoriasis, Susceptibility To, Type 13

Parastremmatic Dwarfism

Parastremmatic Dysplasia	PSTD
Dwarfism, Parastremmatic

Ceroid Lipofuscinosis, Neuronal, 3

Batten Disease	Juvenile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis 3	CLN3
Jncl	Spielmeyer-Vogt Disease
Vogt-Spielmeyer Disease	Spielmeyer-Sjogren Disease
Cln3 Disease	Neuronal Ceroid Lipofuscinosis, Juvenile
Cln3 Disease, Juvenile	Spielmeyer Sjogren Disease
Vogt Spielmeyer Disease	Batten-Mayou Disease
Batten-Spielmeyer-Vogt Disease	Cln3-Related Neuronal Ceroid-Lipofuscinosis
Juvenile Batten Disease	Juvenile Cerebroretinal Degeneration
Classic Juvenile Ncl	Classic Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Ncl	Lipofuscinosis, Ceroid, Neuronal, Type 3

Mucolipidosis Iii Alpha/Beta

Pseudo-Hurler Polydystrophy	Mucolipidosis Iii
Ml Iii Alpha/Beta	Mucolipidosis Iiia
Ml Iiia	Ml Iii
Ml 3 A	Ml3
Mucolipidosis Type 3a	Mucolipidosis Iii, Variant
Mucolipidosis Type Iii Alpha/Beta	Ml 3 Alpha/Beta
Mucolipidosis Type 3 Alpha/Beta	Mucolipidosis Type 3
Mucolipidosis Type Iii Complementation Group A	MLIIIA
Cariant Pseudo-Hurler Polydystrophy	Mucolipidosis, Type Iii Alpha/Beta
Mucolipidosis, Type Iii, Alpha/Beta

Familial Episodic Pain Syndrome

Feps

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia	MPS3A
Mps Iiia	Sanfilippo Syndrome A
Heparan Sulfate Sulfatase Deficiency	Sulfamidase Deficiency
Heparan Sulfamidase Deficiency	Mpsiiia
Mucopolysaccharidosis Type 3a	Sanfilippo Syndrome Type A
Mucopolysaccharidosis Iii-A	Heparane Sulfamidase Deficiency
Mps 3a	Mucopoly-Saccharidosis Type 3a
Mps Iii-A	Mucopolysaccharidosis 3a
Mucopolysaccharidosis Iii

Mucopolysaccharidosis Iii

Sanfilippo Syndrome	Mucopolysaccharidosis Type Iii
Mucopolysaccharidosis Type 3	Mps Iii
Mpsiii	Sanfilippo Disease
Heparan Sulfate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Iii
N-Sulphoglucosamine Sulphohydrolase Deficiency	Naglu Deficiency
Sanfilippo'S Syndrome	Mucopoly-Saccharidosis Type 3
Mps3	Sanfilippos Syndrome
Mucopolysaccharidosis Type Iiia	Mps Iii B

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Brachyolmia

Brachyrachia

Lipid Storage Disease

Lipoidosis	Inborn Lipid Storage Disorder
Lipoid Storage Diseas	Lipid Storage Diseases
Lipidoses

Tay-Sachs Disease

Hexosaminidase A Deficiency	TSD
Hexa Deficiency	Gm2 Gangliosidosis, Type 1
Hexosaminidase Alpha-Subunit Deficiency	Gm2-Gangliosidosis, Several Forms
Gm2-Gangliosidosis, B, B1, Ab Variant	B Variant Gm2 Gangliosidosis
Sphingolipidosis, Tay-Sachs	Gm2-Gangliosidosis, Type I
B Variant Gm2-Gangliosidosis	Hex A Pseudodeficiency
Hexa Disorders	Beta-Hexosaminidase A Deficiency
Gm2 Gangliosidosis, Type I	Gangliosidosis Gm2 , Type 1
Gm2 Gangliosidosis, B, B1 Variant	Gm2-Gangliosidosis 1
GM2G1	Gm2-Gangliosidosis B Variant
Tay-Sachs Disease Pseudo-Ab Variant	Tay-Sachs Disease Variant B1
Gangliosidoses, Gm2

Sphingolipidosis

Sphingolipidoses

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

C Syndrome

Opitz Trigonocephaly Syndrome	Trigonocephaly
Trigonocephaly Syndrome	Trigonocephaly C Syndrome
Opitz C Trigonocephaly	Opitz Trigonocephaly C Syndrome
Otcs	CSYN

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency	Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
Acid Sphingomyelinase Deficiency, Neurovisceral Type	Asmd, Neurovisceral Type
Infantile Neurovisceral Acid Sphingomyelinase Deficiency	Infantile Neurovisceral Asmd
Npd-A	Niemann-Pick Disease A
NPDA	Classical Niemann-Pick Disease
Niemann-Pick Disease Acute Neuronopathic Form	Niemann-Pick Disease Acute Neurovisceral Form
Niemann-Pick Disease Classical Infantile Form	Niemann-Pick Disease Intermediate Protracted Neurovisceral
Niemann-Pick Disease Neuronopathic Type	Niemann-Pick Disease Type I
Npa	Niemann-Pick Diseases

Gaucher'S Disease

Gaucher Disease	Kerasin Thesaurismosis
Glucocerebrosidase Deficiency	Glucosylceramidase Deficiency
Cerebroside Lipidosis Syndrome	Acid Beta-Glucosidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency	Acute Cerebral Gaucher Disease
Gaucher Splenomegaly	Glucocerebrosidosis
Glucosyl Cerebroside Lipidosis	Kerasin Lipoidosis
Lipoid Histiocytosis	Glocucerebrosidase Deficiency
Sphingolipidosis 1	Gaucher Syndrome
Gauchers Disease	Gd
Glucosylceramide Lipidosis	Kerasin Histiocytosis
Gaucher Disease, Type 1	Gaucher Disease, Type 2

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type	Adpkd
Polycystic Kidney Diseases	Polycystic Kidney, Autosomal Dominant
Congenital Biliary Ectasias	Polycystic Kidney And Hepatic Disease 1
Polycystic Kidney Disease, Autosomal Dominant	Kidney, Polycystic, Disease, Autosomal Dominant
Adult Polycystic Kidney Disease	Polycystic Kidney, Adult Type
Apckd - [Autosomal Polycystic Kidney Disease]

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08244	MCOLN1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MCOLN1	MGD	MGI:1890498
Rattus norvegicus	MCOLN1	RGD	RGD:1308953
Felis catus	MCOLN1	VGNC	VGNC:63418
Macaca mulatta	MCOLN1	VGNC	VGNC:74503
Canis familiaris	MCOLN1	VGNC	VGNC:43090
Bos taurus	MCOLN1	VGNC	VGNC:31318
Others	MCOLN1	NCBI