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

Also Known as MLSN1; CSNB1C; LTRPC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4308

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	References	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	References	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	References	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
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-B0151	Pregnenolone	99.85%	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)		99.91%	Phase 4

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110220	CIM0216	Agonist	99.94%	Unkown
HY-101464	ML329	Inhibitor	98.0%	Unkown
HY-156483	TT-012	Inhibitor	99.76%	Unkown
HY-B0151S2	Pregnenolone-d4-1		99.34%	Unkown
HY-110189S1	Pregnenolone monosulfate-d4 sodium		99.8%	Unkown
HY-B0151S	Pregnenolone-d4		/	Unkown
HY-B0151S1	Pregnenolone-13C2,d2		99.2%	Unkown
HY-110189S	Pregnenolone monosulfate sodium-13C2,d2		/	Unkown
HY-B0151S3	Pregnenolone-d6		/	Unkown
HY-RS15111	TRPM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17998	Trpm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24470	Trpm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	TRPM1	NCBI