MCOLN1 - mucolipin TRP cation channel 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57192

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium channel activity	IDA IDA: Inferred from direct assay	25720963	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	29019983	GOA
enables iron ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	18794901	GOA
enables ligand-gated calcium channel activity	IDA IDA: Inferred from direct assay	25720963	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21224396	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion export	IDA IDA: Inferred from direct assay	25720963	GOA
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	29019983	GOA
involved in iron ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	18794901	GOA
involved in phagosome maturation	IDA IDA: Inferred from direct assay	27623384	GOA
involved in positive regulation of lysosome organization	IDA IDA: Inferred from direct assay	25720963	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	29019983	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in late endosome	IDA IDA: Inferred from direct assay	21224396	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	25720963	GOA
located in lysosome	IDA IDA: Inferred from direct assay	21224396	GOA
located in membrane	IDA IDA: Inferred from direct assay	29019983	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCOLN1 Protein Structure

PKD_channel

0
100
200
300
400
500
580 a.a.

Protein Preferred Names	Protein Names
mucolipin-1	mucolipidin

MCOLN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MCOLN1	Q9GZU1	MCOLN1	Homo sapiens	Q9GZU1	3D-EM	30305615
Intra	MCOLN1	Q9GZU1	TRIM27	Homo sapiens	P14373	Y2H Pooling	16169070
Intra	MCOLN1	Q9GZU1	SLC35E1	Homo sapiens	Q96K37	Y2H Pooling	16169070
Intra	MCOLN1	Q9GZU1	ap3a_sars2	SARS-CoV-2	P0DTC3	Anti Tag CoIP	34706264
Intra	MCOLN1	Q9GZU1	ap3a_sars2	SARS-CoV-2	P0DTC3	Confocal	34706264
Intra	MCOLN1	Q9GZU1	MCOLN1	Homo sapiens	Q9GZU1	GMS	29019983
Intra	MCOLN1	Q9GZU1	MCOLN2	Homo sapiens	Q8IZK6	Anti Tag CoIP	35271311
Intra	MCOLN1	Q9GZU1	APPBP2	Homo sapiens	Q92624	Y2H Prey Pooling	32296183
Intra	MCOLN1	Q9GZU1	MCOLN1	Homo sapiens	Q9GZU1	3D-EM	29019983
Intra	MCOLN1	Q9GZU1	GPR35	Homo sapiens	Q9HC97	Ub Reconstruction	28298427
Intra	MCOLN1	Q9GZU1	APPBP2	Homo sapiens	Q92624	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

MCOLN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86974	Mucolipin-1 Antibody (YA6667)	WB, IHC-P	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08244	MCOLN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20178	Mcoln1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26682	Mcoln1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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