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Aliases for TRPM1 Gene

Aliases for TRPM1 Gene

  • Transient Receptor Potential Cation Channel Subfamily M Member 1 2 3 5
  • Long Transient Receptor Potential Channel 1 3 4
  • Melastatin-1 3 4
  • LTRPC1 3 4
  • MLSN1 3 4
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 1 2
  • 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 Congenital Stationary Night Blindness. Among its related pathways are Ion channel transport and CREB Pathway. GO annotations related to this gene include ion channel activity and cation channel activity. An important paralog of this gene is TRPM3.

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

Enhancers for TRPM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F030988 1.3 Ensembl ENCODE 11.1 +170.8 170769 5.0 PKNOX1 WRNIP1 ARID4B SIN3A ZNF48 YY1 GLIS2 ELK1 ZNF143 ZNF207 MTMR10 HERC2P10 TRPM1 RNU6-466P FAN1 ENSG00000260382 ENSG00000215302 GC15M030957
GH15F031104 1.1 Ensembl ENCODE 11.4 +56.1 56066 1.3 CTCF ATF1 KLF1 ESRRA PTRF RAD21 ZNF335 IRF9 GATA3 POLR2A TRPM1 RNU6-466P MTMR10 GC15M031068
GH15F031197 1 Ensembl ENCODE 12.1 -36.4 -36391 0.5 CTCF PKNOX1 MAX EBF1 RAD21 YY1 RELA EED ZNF143 SMC3 TRPM1 KLF13 LOC102725022
GH15F031128 1 Ensembl ENCODE 11.7 +31.9 31942 0.9 CTCF TFAP4 ZNF654 MAFG SIN3A TRIM22 REST RAD21 JUND ZNF316 TRPM1 FAN1 GC15M031068
GH15F031092 1 Ensembl ENCODE 11.5 +68.4 68410 0.5 ELF3 SOX13 TFAP4 JUN RARA POLR2A RERE NR2F6 FOS GATAD2A MTMR10 TRPM1 FAN1 GC15M031068
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRPM1 on UCSC Golden Path with GeneCards custom track

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

Genes around TRPM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for TRPM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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:0005261 cation channel activity IEA --
GO:0005262 calcium channel activity TAS --
genes like me logo Genes that share ontologies with TRPM1: view
genes like me logo Genes that share phenotypes with TRPM1: view

Human Phenotype Ontology for TRPM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPM1 Gene

MGI Knock Outs for TRPM1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPM1

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPM1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for TRPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9806836
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035841 new growing cell tip IEA --
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

Interacting Proteins for TRPM1 Gene

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 IEA --
GO:0007165 signal transduction IEA --
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: DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra 0
pregnenolone sulphate Pharma Antagonist 0
Zn<sup>2+</sup> Pharma Positive, Allosteric regulator 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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for TRPM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRPM1 Gene:

TRPM1

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TRPM1 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia TRPM1 34 35
  • 88.16 (n)
cow
(Bos Taurus)
Mammalia TRPM1 34 35
  • 86.38 (n)
rat
(Rattus norvegicus)
Mammalia Trpm1 34
  • 83.74 (n)
mouse
(Mus musculus)
Mammalia Trpm1 34 16 35
  • 82.92 (n)
oppossum
(Monodelphis domestica)
Mammalia TRPM1 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPM1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRPM1 34 35
  • 75.53 (n)
lizard
(Anolis carolinensis)
Reptilia TRPM1 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpm1 34
  • 71.35 (n)
zebrafish
(Danio rerio)
Actinopterygii trpm1b 35
  • 78 (a)
OneToMany
trpm1a 35
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30078 36
  • 44 (a)
CG30079 36
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea gon-2 34
  • 51.01 (n)
Species where no ortholog for TRPM1 was found in the sources mined by GeneCards:
  • 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
rs191205969 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216], Pathogenic 31,068,010(+) TTAAG(A/G)GCTTG reference, missense
rs200514769 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] 31,068,091(+) GGATA(C/T)ACTGT reference, missense
rs267607139 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216], Pathogenic 31,042,140(-) GTATC(A/C)CTTCC reference, missense
rs369484186 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] 31,031,040(+) GAAGA(A/T)GTTTC intron-variant, reference, missense
rs372608320 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] 31,061,447(+) CTTTC(A/C)GCAGG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv832952 CNV gain+loss 17160897
nsv832951 CNV loss 17160897
nsv820152 CNV loss 19587683
nsv568767 CNV loss 21841781
nsv525795 CNV gain 19592680
nsv520825 CNV loss 19592680
nsv477818 CNV novel sequence insertion 20440878
nsv456746 CNV loss 19166990
nsv1050000 CNV loss 25217958
nsv1046874 CNV gain 25217958
esv3636048 CNV loss 21293372
esv3636047 CNV loss 21293372
esv3636046 CNV loss 21293372
esv3636045 CNV gain 21293372
esv3636044 CNV loss 21293372
esv3636043 CNV loss 21293372
esv3636036 CNV gain 21293372
esv3581612 CNV loss 25503493
esv3581611 CNV loss 25503493
esv3581610 CNV loss 25503493
esv33507 CNV loss 17666407
esv2761861 CNV loss 21179565
esv2760394 CNV loss 21179565
esv2678604 CNV deletion 23128226
esv2658003 CNV deletion 23128226
dgv4428n54 CNV loss 21841781
dgv2534n100 CNV loss 25217958

Variation tolerance for TRPM1 Gene

Residual Variation Intolerance Score: 85.4% 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

Human Gene Mutation Database (HGMD)
TRPM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPM1

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

Disorders for TRPM1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
night blindness, congenital stationary , 1c, autosomal recessive
  • congenital stationary night blindness, type 1c
congenital stationary night blindness
  • congenital essential nyctalopia
melanoma metastasis
night blindness
chromosome 15q13.3 microdeletion syndrome
  • chromosome 15q13.3 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
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 3 4 22 64
  2. TRPM1 forms ion channels associated with melanin content in melanocytes. (PMID: 19436059) Oancea E. … Clapham D.E. (Sci. Signal. 2009) 3 4 22 64
  3. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. (PMID: 19878917) Li Z. … Webster A.R. (Am. J. Hum. Genet. 2009) 3 4 22 64
  4. Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells. (PMID: 11112417) Fang D. … Setaluri V. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
  5. Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. (PMID: 9537257) Duncan L.M. … Shyjan A.W. (Cancer Res. 1998) 2 3 4 64

Products for TRPM1 Gene

Sources for TRPM1 Gene

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