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TRPM1 Gene(Protein Coding)

Transient Receptor Potential Cation Channel Subfamily M Member 1

GCID:
GC15M031001
GIFtS:
51
Genes Participants
UDN Logo

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, Type 1C and Congenital Stationary Night Blindness. Among its related pathways are CREB Pathway and Ion channel transport. Gene Ontology (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

Additional gene information for TRPM1 Gene

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

Genomics for TRPM1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for TRPM1 Gene

Promoters and enhancers for TRPM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH15I031101 Promoter 0.7 EPDnew 562.7 +59.5 59528 0.1 ZEB2 EZH2 ZEB1 TRPM1 MTMR10 GC15M031068
GH15I030988 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.1 +170.7 170669 4.8 PKNOX1 FOXA2 ARID4B SIN3A YY1 POLR2B ZNF207 ZNF143 REST ZNF592 MTMR10 HERC2P10 TRPM1 RNU6-466P FAN1 ENSG00000260382 ENSG00000215302 GC15M030957
GH15I031197 Enhancer 0.9 Ensembl ENCODE 12.1 -36.3 -36281 0.3 CTCF PKNOX1 USF1 MAX EBF1 BATF RAD21 RELA SMC3 ZNF143 TRPM1 KLF13 LINC02352
GH15I031128 Enhancer 0.9 Ensembl ENCODE 11.8 +32.0 32039 0.7 CTCF TFAP4 SIN3A RAD21 CC2D1A ZNF316 ARID2 SMC3 ZNF143 MAFK TRPM1 FAN1 GC15M031068
GH15I031092 Enhancer 0.8 ENCODE 11.6 +68.5 68450 0.1 ELF3 SOX13 TFAP4 FOXA2 ZBTB40 RARA RERE FOSL2 NR2F6 FOS MTMR10 TRPM1 FAN1 GC15M031068
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TRPM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRPM1 gene promoter:

Genomic Locations for TRPM1 Gene

Genomic Locations for TRPM1 Gene
chr15:31,001,061-31,161,273
(GRCh38/hg38)
Size:
160,213 bases
Orientation:
Minus strand
chr15:31,293,264-31,453,476
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for TRPM1 Gene

Proteins for TRPM1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPM1 Gene

Protein Expression for TRPM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TRPM1 Gene

No Post-translational modifications

Other Protein References for TRPM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TRPM1 Gene

Domains & Families for TRPM1 Gene

Gene Families for TRPM1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for TRPM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRPM1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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).

Phenotypes From GWAS Catalog for TRPM1 Gene

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

Clone Products

  • Addgene plasmids for TRPM1

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

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

1 Qiagen pathway 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

Products:

  1. Drug

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

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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TRPM1 Gene

(4) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(108) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TRPM1 Gene

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

Clone Products

  • Addgene plasmids for TRPM1

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRPM1 Gene

mRNA expression in normal human tissues for TRPM1 Gene
mRNA expression by GTEx for TRPM1 GenemRNA expression by BioGPS 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, PaxDb, 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.

Evidence on tissue expression from TISSUES for TRPM1 Gene

  • Skin(3.2)
  • Eye(2.5)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPM1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • blood
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TRPM1: view

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 33 34
  • 99.29 (n)
dog
(Canis familiaris)
 Mammalia TRPM1 33 34
  • 88.16 (n)
cow
(Bos Taurus)
 Mammalia TRPM1 33 34
  • 86.38 (n)
rat
(Rattus norvegicus)
 Mammalia Trpm1 33
  • 83.74 (n)
mouse
(Mus musculus)
 Mammalia Trpm1 33 16 34
  • 82.92 (n)
oppossum
(Monodelphis domestica)
 Mammalia TRPM1 34
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TRPM1 34
  • 68 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TRPM1 33 34
  • 75.53 (n)
lizard
(Anolis carolinensis)
 Reptilia TRPM1 34
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia trpm1 33
  • 71.35 (n)
zebrafish
(Danio rerio)
 Actinopterygii trpm1b 34
  • 78 (a)
 OneToMany
trpm1a 34
  • 68 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG30078 35
  • 44 (a)
CG30079 35
  • 44 (a)
worm
(Caenorhabditis elegans)
 Secernentea gon-2 33
  • 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 Variation AA Info Type
rs1035705 benign, not specified, Congenital Stationary Night Blindness, Recessive 31,050,541(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs11070718 benign, Congenital Stationary Night Blindness, Recessive 31,001,251(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs113814575 uncertain-significance, Congenital Stationary Night Blindness, Recessive 31,002,351(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs114875010 uncertain-significance, Congenital Stationary Night Blindness, Recessive 31,002,762(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs117105175 uncertain-significance, Congenital Stationary Night Blindness, Recessive 31,002,055(-) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for TRPM1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JJ … Shyjan AW (Genomics 1998) 2 3 4 22 58
  2. 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 AR (American journal of human genetics 2009) 3 4 22 58
  3. TRPM1 forms ion channels associated with melanin content in melanocytes. (PMID: 19436059) Oancea E … Clapham DE (Science signaling 2009) 3 4 22 58
  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 (Biochemical and biophysical research communications 2000) 3 4 22 58
  5. Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. (PMID: 9537257) Duncan LM … Shyjan AW (Cancer research 1998) 2 3 4 58

Products for TRPM1 Gene

  • Addgene plasmids for TRPM1

Sources for TRPM1 Gene

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