TRPM1 - transient receptor potential cation channel subfamily M member 1 Gene

Homo sapiens

Also known as MLSN1; CSNB1C; LTRPC1

Gene ID: 4308 | Gene type: protein coding

About TRPM1

Cytogenetic location: 15q13.3 Genomic coordinates (GRCh38): 15:31,001,065-31,161,160 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 314 orthologues, 7 paralogues and is associated with 4 phenotypes. Biased expression in skin (RPKM 2.8) and testis (RPKM 1.1).

Summary

This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

TRPM1 Products(4)

mRNA	Protein	Name
NM_001252020.2	NP_001238949.1	transient receptor potential cation channel subfamily M member 1 isoform 1
NM_001252024.2	NP_001238953.1	transient receptor potential cation channel subfamily M member 1 isoform 3
NM_001252030.2	NP_001238959.1	transient receptor potential cation channel subfamily M member 1 isoform 4
NM_002420.6	NP_002411.3	transient receptor potential cation channel subfamily M member 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium channel activity	IDA IDA: Inferred from direct assay	23452348	GOA
enables monoatomic cation transmembrane transporter activity	IDA IDA: Inferred from direct assay	21278253	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in G protein-coupled glutamate receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	23452348	GOA
involved in calcium ion import across plasma membrane	IDA IDA: Inferred from direct assay	23452348	GOA
involved in cellular response to light stimulus	IMP IMP: Inferred from mutant phenotype	19896109	GOA
involved in monoatomic cation transmembrane transport	IDA IDA: Inferred from direct assay	21278253	GOA
involved in visual perception	IMP IMP: Inferred from mutant phenotype	19878917	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	30027108	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

TRPM1 Protein Structure

Ion_trans

0
300
600
900
1200
1500
1603 a.a.

Protein Preferred Names

Protein Names

transient receptor potential cation channel subfamily M member 1

long transient receptor potential channel 1

Related Diseases

Diseases

Alias

Night Blindness, Congenital Stationary, Type 1c

Congenital Stationary Night Blindness 1c	CSNB1C
Csnb, Complete, Autosomal Recessive	Night Blindness, Congenital Stationary , 1c, Autosomal Recessive
Congenital Stationary Night Blindness 1c Autosomal Recessive	Night Blindness, Congenital Stationary, 1c
Complete Autosomal Recessive Csnb	Night Blindness, Congenital Stationary, Type Ic
Blindness, Night, Stationary, Congenital, Type 1c

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Night Blindness

Nyctalopia

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome	15q13.3 Microdeletion Syndrome
15q13.3 Microdeletion	Microdeletion 15q13.3 Syndrome
Del(15)(Q13.3)	Monosomy 15q13.3

Night Blindness, Congenital Stationary, Type 1b

Congenital Stationary Night Blindness 1b	CSNB1B
Night Blindness, Congenital Stationary, Complete, Autosomal Recessive	Csnb, Complete, Autosomal Recessive
Night Blindness, Congenital Stationary , 1b, Autosomal Recessive	Autosomal Recessive Complete Congenital Stationary Night Blindness
Congenital Stationary Night Blindness 1b Autosomal Recessive	Night Blindness, Congenital Stationary, 1b
Complete Autosomal Recessive Csnb	Complete Congenital Stationary Night Blindness Autosomal Recessive
Blindness, Night, Stationary, Congenital, Type 1b

Retinitis Pigmentosa 32

RP32	Retinitis Pigmentosa-32

Retinoschisis 1, X-Linked, Juvenile

Retinoschisis	X-Linked Retinoschisis
X-Linked Juvenile Retinoschisis	RS1
XLRS1	X-Linked Juvenile Retinoschisis 1
Xlrs	Retinoschisis, X-Linked
Rs	Congenital X-Linked Retinoschisis
Degenerative Retinoschisis	Juvenile Retinoschisis
Xjr	Retinoschisis Juvenile X-Linked 1
Retinoschisis, Juvenile, X-Linked	Retinoschisis, Degenerative

Schizophrenia 10

SCZD10	Schizophrenia Susceptibility Locus, Chromosome 15q15-Related
Catatonia, Periodic

Abnormal Threshold Of Rods

Abnormal Dark Adaptation Curve

Facial Dermatosis

Facial Dermatoses

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Conjunctival Nevus

Nevus Of Conjunctiva

Ocular Cancer

Eye Neoplasm	Eye Carcinoma
Eye Cancer	Eye Neoplasms
Malignant Eye Neoplasm	Neoplasm Of Eye
Neoplasm Of Eye Proper	Ocular Tumor
Carcinoma Of Eye	Ocular Carcinoma
Malignant Tumor Of Eye

Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome	Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4a	WS4A
Ws4	Waardenburg Syndrome Type 4
Waardenburg Syndrome Type Iva	Waardenburg Syndrome With Hirschsprung Disease Type 4a
Hirschsprung Disease With Pigmentary Anomaly	Waardenburg-Hirschsprung Syndrome
Waardenburg Syndrome, Type Iva	Waardenburg Syndrome With Hirschsprung Disease, Type 4a
Waardenburg-Hirschsprung Disease	Waardenburg Syndrome, Type 4
Waardenburg Syndrome 4a

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Approval

Bioactive Molecules (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-B0151	Pregnenolone	99.87%	Unkown
HY-110189	Pregnenolone monosulfate sodium	99.96%	Unkown
HY-B1739	Pregnenolone monosulfate	99.96%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-B0151R	Pregnenolone (Standard)		/	Phase 4

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110220	CIM0216	Agonist	99.94%	Unkown
HY-101464	ML329	Inhibitor	≥98.0%	Unkown
HY-B0151S2	Pregnenolone-d4-1		99.34%	Unkown
HY-B0151S	Pregnenolone-d4		/	Unkown
HY-110189S	Pregnenolone monosulfate sodium-13C2,d2		/	Unkown
HY-110189S1	Pregnenolone monosulfate-d4 sodium		/	Unkown
HY-B0151S1	Pregnenolone-13C2,d2		/	Unkown
HY-RS15111	TRPM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS17998	Trpm1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS24470	Trpm1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TRPM1	VGNC	VGNC:47873
Rattus norvegicus	TRPM1	RGD	RGD:1597140
Macaca mulatta	TRPM1	VGNC	VGNC:79964
Bos taurus	TRPM1	VGNC	VGNC:36388
Felis catus	TRPM1	VGNC	VGNC:68275
Mus musculus	TRPM1	MGD	MGI:1330305

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