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Aliases for TRPM1 Gene

Aliases for TRPM1 Gene

  • Transient Receptor Potential Cation Channel, Subfamily M, Member 1 2 3
  • Long Transient Receptor Potential Channel 1 3 4
  • Melastatin-1 3 4
  • LTRPC1 3 4
  • MLSN1 3 4
  • Transient Receptor Potential Melastatin Family 3
  • Melastatin 1 2
  • CSNB1C 3
  • MLSN 4

External Ids for TRPM1 Gene

Previous HGNC Symbols for TRPM1 Gene

  • MLSN1

Previous GeneCards Identifiers for TRPM1 Gene

  • GC15P027628
  • GC15M024049
  • GC15M028873
  • GC15M029009
  • GC15M029080
  • GC15M031293
  • GC15M008470

Summaries for TRPM1 Gene

Entrez Gene Summary for TRPM1 Gene

  • 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]

GeneCards Summary for TRPM1 Gene

TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) is a Protein Coding gene. Diseases associated with TRPM1 include night blindness, congenital stationary , 1c, autosomal recessive and melanoma metastasis. Among its related pathways are CREB Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ion channel activity and cation channel activity. An important paralog of this gene is TRPM8.

UniProtKB/Swiss-Prot for TRPM1 Gene

  • Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel.

Gene Wiki entry for TRPM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPM1 Gene

Genomics for TRPM1 Gene

Regulatory Elements for TRPM1 Gene

Genomic Location for TRPM1 Gene

Chromosome:
15
Start:
31,001,061 bp from pter
End:
31,161,273 bp from pter
Size:
160,213 bases
Orientation:
Minus strand

Genomic View for TRPM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TRPM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPM1 Gene

Proteins for TRPM1 Gene

  • Protein details for TRPM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4N2-TRPM1_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily M member 1
    Protein Accession:
    Q7Z4N2
    Secondary Accessions:
    • D9IDV2
    • D9IDV3
    • F8W865
    • H0YN37
    • O75560
    • Q6PE48
    • Q7Z4N1
    • Q7Z4N3
    • Q7Z4N4
    • Q7Z4N5

    Protein attributes for TRPM1 Gene

    Size:
    1603 amino acids
    Molecular mass:
    182178 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TRPM1 Gene

neXtProt entry for TRPM1 Gene

Proteomics data for TRPM1 Gene at MOPED

Post-translational modifications for TRPM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TRPM1

No data available for DME Specific Peptides for TRPM1 Gene

Domains & Families for TRPM1 Gene

Gene Families for TRPM1 Gene

Protein Domains for TRPM1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q7Z4N2

UniProtKB/Swiss-Prot:

TRPM1_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily.
genes like me logo Genes that share domains with TRPM1: view

Function for TRPM1 Gene

Molecular function for TRPM1 Gene

UniProtKB/Swiss-Prot Function:
Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel.
UniProtKB/Swiss-Prot Induction:
Up-regulated by hexamethylene bisacetamide (HBMA).

Gene Ontology (GO) - Molecular Function for TRPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005261 cation channel activity --
GO:0005262 calcium channel activity IDA 23452348
genes like me logo Genes that share ontologies with TRPM1: view

Phenotypes for TRPM1 Gene

MGI mutant phenotypes for TRPM1:
inferred from 2 alleles
GenomeRNAi human phenotypes for TRPM1:
genes like me logo Genes that share phenotypes with TRPM1: view

Animal Models for TRPM1 Gene

MGI Knock Outs for TRPM1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TRPM1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPM1 Gene

Localization for TRPM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPM1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPM1 Gene COMPARTMENTS Subcellular localization image for TRPM1 gene
Compartment Confidence
plasma membrane 4
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for TRPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 23452348
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9806836
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with TRPM1: view

Pathways & Interactions for TRPM1 Gene

genes like me logo Genes that share pathways with TRPM1: view

Pathways by source for TRPM1 Gene

PCR Array Products

Interacting Proteins for TRPM1 Gene

Selected Interacting proteins: Q7Z4N2-TRPM1_HUMAN for TRPM1 Gene via I2D

Symbol External ID(s) Details
MYC

Gene Ontology (GO) - Biological Process for TRPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9806836
GO:0006811 ion transport --
GO:0007165 signal transduction --
GO:0007216 G-protein coupled glutamate receptor signaling pathway IMP 23452348
GO:0007601 visual perception IMP 19878917
genes like me logo Genes that share ontologies with TRPM1: view

No data available for SIGNOR curated interactions for TRPM1 Gene

Drugs & Compounds for TRPM1 Gene

(4) Drugs for TRPM1 Gene - From: IUPHAR, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra 0
pregnenolone sulphate Pharma Activator 0
Zn<sup>2+</sup> Pharma Channel blocker 0
Calcium Nutra 0

(1) Additional Compounds for TRPM1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Hydroxy-L-proline
  • (2S)-4-hydroxypyrrolidine-2-carboxylic acid
  • (4S)-4-hydroxy-L-Proline
  • 4-Hydroxy-L-Proline
  • Allo-4-Hydroxy-L-proline
  • Allo-4-Hydroxyproline
30724-02-8
genes like me logo Genes that share compounds with TRPM1: view

Transcripts for TRPM1 Gene

Unigene Clusters for TRPM1 Gene

Transient receptor potential cation channel, subfamily M, member 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TRPM1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRPM1 Gene

No ASD Table

Relevant External Links for TRPM1 Gene

GeneLoc Exon Structure for
TRPM1
ECgene alternative splicing isoforms for
TRPM1

Expression for TRPM1 Gene

mRNA expression in normal human tissues for TRPM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPM1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x13.7), Skin - Not Sun Exposed (Suprapubic) (x12.7), and Testis (x7.0).

Protein differential expression in normal tissues from HIPED for TRPM1 Gene

This gene is overexpressed in Heart (67.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRPM1 Gene



SOURCE GeneReport for Unigene cluster for TRPM1 Gene Hs.155942

mRNA Expression by UniProt/SwissProt for TRPM1 Gene

Q7Z4N2-TRPM1_HUMAN
Tissue specificity: Expressed in the retina where it localizes to the outer plexiform layer. Highly expressed in benign melanocytic nevi and diffusely expressed in various in situ melanomas, but not detected in melanoma metastases. Also expressed in melanocytes and pigmented metastatic melanoma cell lines. In melanocytes expression appears to be regulated at the level of transcription and mRNA processing.
genes like me logo Genes that share expression patterns with TRPM1: view

Protein tissue co-expression partners for TRPM1 Gene

Primer Products

In Situ Assay Products

Orthologs for TRPM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRPM1 35
  • 86.38 (n)
  • 88.64 (a)
TRPM1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPM1 35
  • 88.16 (n)
  • 90.65 (a)
TRPM1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpm1 35
  • 82.92 (n)
  • 87.47 (a)
Trpm1 16
Trpm1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRPM1 35
  • 99.29 (n)
  • 99.45 (a)
TRPM1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpm1 35
  • 83.74 (n)
  • 88.76 (a)
oppossum
(Monodelphis domestica)
Mammalia TRPM1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPM1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRPM1 35
  • 75.53 (n)
  • 80.77 (a)
TRPM1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRPM1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpm1 35
  • 71.35 (n)
  • 75.62 (a)
zebrafish
(Danio rerio)
Actinopterygii trpm1a 36
  • 68 (a)
OneToMany
trpm1b 36
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30078 37
  • 44 (a)
CG30079 37
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea gon-2 35
  • 51.01 (n)
  • 44.43 (a)
Species with no ortholog for TRPM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRPM1 Gene

ENSEMBL:
Gene Tree for TRPM1 (if available)
TreeFam:
Gene Tree for TRPM1 (if available)

Paralogs for TRPM1 Gene

Paralogs for TRPM1 Gene

(4) SIMAP similar genes for TRPM1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TRPM1: view

Variants for TRPM1 Gene

Sequence variations from dbSNP and Humsavar for TRPM1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs3214509 -- 31,076,127(+) ACCTC(-/G/GG)GGGGG intron-variant
rs3214510 -- 31,042,706(+) TAGAG(-/A)AAAAT intron-variant
rs3842341 -- 31,067,551(+) TGCCT(-/C)AGTTT intron-variant
rs4779823 -- 31,111,902(+) CCCCC(A/C)AAAAA intron-variant
rs10606906 -- 31,162,529(+) GTCTC(-/A)AAAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TRPM1 Gene

Variant ID Type Subtype PubMed ID
nsv525795 CNV Gain 19592680
nsv903831 CNV Gain 21882294
nsv832951 CNV Loss 17160897
nsv903834 CNV Gain 21882294
esv33507 CNV Loss 17666407
nsv832952 CNV Gain+Loss 17160897
esv2678604 CNV Deletion 23128226
nsv903835 CNV Gain 21882294
nsv903836 CNV Gain 21882294
nsv520825 CNV Loss 19592680
nsv456746 CNV Loss 19166990
nsv903837 CNV Gain 21882294
nsv820152 CNV Loss 19587683

Variation tolerance for TRPM1 Gene

Residual Variation Intolerance Score: 85.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.52; 82.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRPM1 Gene

HapMap Linkage Disequilibrium report
TRPM1
Human Gene Mutation Database (HGMD)
TRPM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPM1 Gene

Disorders for TRPM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TRPM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
night blindness, congenital stationary , 1c, autosomal recessive
  • congenital stationary night blindness, type 1c
melanoma metastasis
congenital stationary night blindness
  • congenital essential nyctalopia
melanoma-associated retinopathy
night blindness
- elite association
Search TRPM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRPM1_HUMAN
  • Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269 PubMed:19878917, ECO:0000269 PubMed:19896109, ECO:0000269 PubMed:19896113}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRPM1

Genetic Association Database (GAD)
TRPM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPM1
genes like me logo Genes that share disorders with TRPM1: view

No data available for Genatlas for TRPM1 Gene

Publications for TRPM1 Gene

  1. Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). (PMID: 9806836) Hunter J.J. … Shyjan A.W. (Genomics 1998) 2 23 67
  2. The correlation of TRPM1 (Melastatin) mRNA expression with microphthalmia-associated transcription factor (MITF) and other melanogenesis-related proteins in normal and pathological skin, hair follicles and melanocytic nevi. (PMID: 20482673) Lu S. … Carlson J.A. (J. Cutan. Pathol. 2010) 23 67
  3. TRPM1 (Melastatin-1/MLSN1) mRNA expression in Spitz nevi and nodular melanomas. (PMID: 19396153) Erickson L.A. … Duncan L.M. (Mod. Pathol. 2009) 23 67
  4. Calcium homeostasis in human melanocytes: role of transient receptor potential melastatin 1 (TRPM1) and its regulation by ultraviolet light. (PMID: 19587221) Devi S. … Setaluri V. (Am. J. Physiol., Cell Physiol. 2009) 23 67
  5. TRPM1 forms ion channels associated with melanin content in melanocytes. (PMID: 19436059) Oancea E. … Clapham D.E. (Sci. Signal. 2009) 23 67

Products for TRPM1 Gene

Sources for TRPM1 Gene

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