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TRPM1 Gene

protein-coding   GIFtS: 61
GCID: GC15M031293

Transient Receptor Potential Cation Channel, Subfamily M,...

(Previous name: melastatin 1)
(Previous symbol: MLSN1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transient Receptor Potential Cation Channel, Subfamily M, Member 11 2     melastatin-12
MLSN11 2 3 5     Transient Receptor Potential Cation Channel Subfamily M Member 12
Long Transient Receptor Potential Channel 12 3     Transient Receptor Potential Melastatin Family2
LTRPC12 3     LTrpC13
CSNB1C2 5     MLSN3
Melastatin 11     Melastatin-13

External Ids:    HGNC: 71461   Entrez Gene: 43082   Ensembl: ENSG000001341607   OMIM: 6035765   UniProtKB: Q7Z4N23   

Export aliases for TRPM1 gene to outside databases

Previous GC identifers: GC15P027628 GC15M024049 GC15M028873 GC15M029009 GC15M029080 GC15M008470


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 congenital stationary night blindness, type 1c, and night blindness, congenital stationary , 1c, autosomal recessive. GO annotations related to this gene include calcium channel activity. An important paralog of this gene is TRPM2.

UniProtKB/Swiss-Prot: TRPM1_HUMAN, Q7Z4N2
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

Gene Wiki entry for TRPM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NT_187660.1  NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRPM1 gene promoter:
         Max1   C/EBPbeta   USF1   POU6F1 (c2)   MEF-2A   MZF-1   AREB6   USF-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRPM1 promoter sequence
   Search Chromatin IP Primers for TRPM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRPM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q13.3   Ensembl cytogenetic band:  15q13.3   HGNC cytogenetic band: 15q13.3

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M031293:  view genomic region     (about GC identifiers)

Start:
31,293,264 bp from pter      End:
31,453,476 bp from pter
Size:
160,213 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TRPM1_HUMAN, Q7Z4N2 (See protein sequence)
Recommended Name: Transient receptor potential cation channel subfamily M member 1  
Size: 1603 amino acids; 182178 Da
Secondary accessions: D9IDV2 D9IDV3 F8W865 H0YN37 O75560 Q6PE48 Q7Z4N1 Q7Z4N3 Q7Z4N4 Q7Z4N5
Alternative splicing: 7 isoforms:  Q7Z4N2-1   Q7Z4N2-2   Q7Z4N2-3   Q7Z4N2-4   Q7Z4N2-5   Q7Z4N2-6   Q7Z4N2-7   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for TRPM1: NX_Q7Z4N2

Explore proteomics data for TRPM1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TRPM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001238949.1  NP_001238953.1  NP_001238959.1  NP_002411.3  

    ENSEMBL proteins: 
     ENSP00000380897   ENSP00000256552   ENSP00000453644   ENSP00000453119   ENSP00000453477  
     ENSP00000452946   ENSP00000454077   ENSP00000453851   ENSP00000437849  
    Reactome Protein details: Q7Z4N2

    TRPM1 Human Recombinant Protein Products:

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    Novus Biologicals TRPM1 Lysate
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    Abcam antibodies for TRPM1 (Q7Z4N2, O75560)
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    Cloud-Clone Corp. ELISAs for TRPM1
    Cloud-Clone Corp. CLIAs for TRPM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TRP: Voltage-gated ion channels / Transient receptor potential cation channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPM1
    Transient Receptor Potential channels

    1 InterPro protein domain:
     IPR005821 Ion_trans_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z4N2

    ProtoNet protein and cluster: Q7Z4N2

    UniProtKB/Swiss-Prot: TRPM1_HUMAN, Q7Z4N2
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily


    TRPM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRPM1_HUMAN, Q7Z4N2
    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
    Induction: Up-regulated by hexamethylene bisacetamide (HBMA)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005261cation channel activity ----
    GO:0005262calcium channel activity IDA--
         
    TRPM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Trpm1):
     vision/eye 

    TRPM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TRPM1: Trpm1tm1Lex Trpm1tm1Tfur

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TRPM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TRPM1:
    hsa-mir-26b-5p (MIRT029939)

    Block miRNA regulation of human, mouse, rat TRPM1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate TRPM1:
    hsa-miR-4311 hsa-miR-643
    SwitchGear 3'UTR luciferase reporter plasmidTRPM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TRPM1
    Predesigned siRNA for gene silencing in human, mouse, rat TRPM1

    Gene Editing
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    OriGene clones in human, mouse for TRPM1 (see all 7)
    OriGene ORF clones in mouse, rat for TRPM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TRPM1 (NM_002420)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPM1

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRPM1_HUMAN, Q7Z4N2: Cell membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9806836
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0035841new growing cell tip IEA--

    TRPM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TRPM1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2CREB Pathway
    Intracellular Calcium Signaling0.50
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4TRP channels
    TRP channels
    5Calcium channels
    Calcium channels

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TRPM1
        Intracellular Calcium Signaling

    1 Reactome Pathway for TRPM1
        TRP channels



    TRPM1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TRPM1: 
              Neuronal Ion Channels in human mouse rat
              Neurotoxicity in human mouse rat
              Tumor Metastasis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TRPM1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TRPM1 (Q7Z4N23 ENSP000003808974) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9806836
    GO:0006811ion transport ----
    GO:0007165signal transduction ----
    GO:0007216G-protein coupled glutamate receptor signaling pathway IMP--
    GO:0007601visual perception IMP19878917

    TRPM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TRPM1

    3 HMDB Compounds for TRPM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-Hydroxy-L-prolineL-4-hydroxy-proline (see all 11)30724-02-8--
    CalciumCa (see all 2)7440-70-2--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--

    2 IUPHAR Ligands for TRPM1 (TRPM1)    About this table
    LigandTypeActionAffinityPubmed IDs
    Zn2+
    Channel blockerNone6--
    pregnenolone sulphate
    ActivatorNone621278253



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TRPM1 gene (4 alternative transcripts): 
    NM_001252020.1  NM_001252024.1  NM_001252030.1  NM_002420.5  

    Unigene Cluster for TRPM1:

    Transient receptor potential cation channel, subfamily M, member 1
    Hs.155942  [show with all ESTs]
    Unigene Representative Sequence: NM_001252020
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397795(uc010azy.3 uc001zfl.3 uc021shz.1 uc001zfm.3)
    ENST00000256552 ENST00000560801 ENST00000558768 ENST00000559177 ENST00000558445
    ENST00000558212 ENST00000557948 ENST00000560658 ENST00000558070 ENST00000559179(uc001zfn.4)
    ENST00000542188(uc021sia.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat TRPM1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate TRPM1:
    hsa-miR-4311 hsa-miR-643
    SwitchGear 3'UTR luciferase reporter plasmidTRPM1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TRPM1
    Predesigned siRNA for gene silencing in human, mouse, rat TRPM1
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    OriGene clones in human, mouse for TRPM1 (see all 7)
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    GenScript: all cDNA clones in your preferred vector: TRPM1 (NM_002420)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPM1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRPM1
      QuantiTect SYBR Green Assays in human, mouse, rat TRPM1
      QuantiFast Probe-based Assays in human, mouse, rat TRPM1

    Additional mRNA sequence: 

    AB115498.1 AB115499.1 AB115500.1 AB115501.1 AB115502.1 AF071787.1 BC005892.1 BC017849.1 
    BC033627.1 BC058286.1 BC070356.1 GQ502181.1 GU576175.1 HM135790.1 HM135791.1 

    12 DOTS entries:

    DT.455489  DT.99950842  DT.101976135  DT.101981372  DT.105760  DT.303695  DT.121040672  DT.408670 
    DT.92421099  DT.121040674  DT.408671  DT.75181319 

    Selected AceView cDNA sequences (see all 108):

    H86490 BU177603 AB115502 AA419529 AB115499 AA057431 AI092759 AI082017 
    BU728911 BU183274 AW087796 AA490273 BU167902 AA318287 BQ676913 AI804385 
    BM724663 AI082301 AB115500 BM695497 AA983927 BM692716 AW340263 CD674987 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TRPM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAGTCACA
    TRPM1 Expression
    About this image


    TRPM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Maxillary Process
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Eye (Sensory Organs)
             Mature Rod Bipolar Cells Inner Nuclear Layer
    TRPM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRPM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.155942

    UniProtKB/Swiss-Prot: TRPM1_HUMAN, Q7Z4N2
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TRPM1: 
              Neuronal Ion Channels in human mouse rat
              Neurotoxicity in human mouse rat
              Tumor Metastasis in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TRPM1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TRPM1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpm11 , 5 transient receptor potential cation channel, subfamily more1, 5 82.92(n)1
    87.47(a)1
      7 (34.61 cM)5
    173641  NM_001039104.21  NP_001034193.21 
     641538355 
    chicken
    (Gallus gallus)
    Aves TRPM11 transient receptor potential cation channel, subfamily more 75.53(n)
    80.77(a)
      427494  XM_425066.3  XP_425066.3 
    lizard
    (Anolis carolinensis)
    Reptilia TRPM16
    transient receptor potential cation channel, subfa...
    78(a)
    1 ↔ 1
    GL343428.1(79466-111555)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia trpm11 transient receptor potential cation channel, subfamily more 71.35(n)
    75.62(a)
      100216447  XM_002934916.2  XP_002934962.2 
    zebrafish
    (Danio rerio)
    Actinopterygii trpm1b6
    trpm1a6
    transient receptor potential cation channel, subfa...
    transient receptor potential cation channel, subfa...
    78(a)
    68(a)
    1 ↔ many
    1 ↔ many
    25(35392180-35430445) ENSDARG00000061399
    7(30648884-30677872) ENSDARG00000011259
    worm
    (Caenorhabditis elegans)
    Secernentea gon-21 gon-2 51.01(n)
    44.43(a)
      172646  NM_001129035.2  NP_001122507.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRPM1 gene
    TRPM22  TRPM52  TRPM82  TRPM72  TRPM62  TRPM32  TRPM42  
    4 SIMAP similar genes for TRPM1 using alignment to 4 protein entries:     TRPM1_HUMAN (see all proteins):
    MLSN2    TRPM3    TRPM6    TRPM7

    TRPM1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TRPM1 (see all 3790)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1912059691,2,,4
    CNight blindness, congenital stationary, 1C (CSNB1C)4 pathogenic111400278(+) TTAAGA/GGCTTG 6 P L mis10--------
    VAR_0631854
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631852 E G mis40--------
    VAR_0631844
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631842 R Q mis40--------
    VAR_0631764
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631762 R C mis40--------
    VAR_0631754
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631752 Y C mis40--------
    VAR_0631824
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631822 M K mis40--------
    VAR_0631744
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631742 Y C mis40--------
    VAR_0631874
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631872 I F mis40--------
    VAR_0631814
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631812 G R mis40--------
    VAR_0631834
    Night blindness, congenital stationary, 1C (CSNB1C)4--see VAR_0631832 P H mis40--------

    HapMap Linkage Disequilibrium report for TRPM1 (31293264 - 31453476 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TRPM1 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678604CNV Deletion23128226
    nsv456746CNV Loss19166990
    nsv520825CNV Loss19592680
    nsv832951CNV Loss17160897
    nsv820152CNV Loss19587683
    esv33507CNV Loss17666407
    nsv903834CNV Gain21882294
    nsv903831CNV Gain21882294
    nsv903835CNV Gain21882294
    nsv903836CNV Gain21882294

    Human Gene Mutation Database (HGMD): TRPM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPM1
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 603576   
    OMIM disorders: 613216  
    UniProtKB/Swiss-Prot: TRPM1_HUMAN, Q7Z4N2
  • Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]: A non-progressive retinal disorder
    characterized by impaired night vision, often associated with nystagmus and myopia. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 15 diseases for TRPM1:    
    About MalaCards
    congenital stationary night blindness, type 1c    night blindness, congenital stationary , 1c, autosomal recessive    night blindness, congenital stationary , 1d, autosomal recessive    congenital stationary night blindness
    night blindness    blindness    melanoma    cutaneous malignant melanoma
    microphthalmia    myopia    atherosclerosis    retinitis
    multiple myeloma    myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TRPM1:
    Night blindness

    TRPM1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for TRPM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastatic melanoma 62.4 7 11112417 (1), 15577322 (1), 10607831 (1), 10903843 (1)
    melanoma 59.7 47 19396153 (7), 19436059 (6), 15577322 (6), 11112417 (3) (see all 9)
    metastasis 32.3 4 15577322 (2), 11112417 (1)
    tumors 14.3 10 15843919 (1), 19587221 (1), 19396153 (1), 20482673 (1)

    Genetic Association Database (GAD): TRPM1

    Export disorders for TRPM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TRPM1 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with TRPM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). (PubMed id 9806836)1, 2, 3, 9 Hunter J.J.... Shyjan A.W. (Genomics 1998)
    2. Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. (PubMed id 9537257)1, 2, 3 Duncan L.M.... Shyjan A.W. (Cancer Res. 1998)
    3. TRPM1 forms ion channels associated with melanin content in melanocytes. (PubMed id 19436059)1, 2, 9 Oancea E.... Clapham D.E. (Sci. Signal. 2009)
    4. Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells. (PubMed id 11112417)1, 2, 9 Fang D. and Setaluri V. (Biochem. Biophys. Res. Commun. 2000)
    5. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. (PubMed id 19878917)1, 2, 9 Li Z.... Webster A.R. (Am. J. Hum. Genet. 2009)
    6. Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics. (PubMed id 19721433)1, 4 McClay J.L....van den Oord E.J. (Mol. Psychiatry 2011)
    7. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. (PubMed id 19896113)1, 2 Audo I....Zeitz C. (Am. J. Hum. Genet. 2009)
    8. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. (PubMed id 19896109)1, 2 van Genderen M.M.... Kamermans M. (Am. J. Hum. Genet. 2009)
    9. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)1, 3 Clapham D.E....Schultz G. (Pharmacol. Rev. 2005)
    10. Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform. (PubMed id 11535825)1, 2 Xu X.-Z.S.... Montell C. (Proc. Natl. Acad. Sci. U.S.A. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4308 HGNC: 7146 AceView: TRPM1 Ensembl:ENSG00000134160 euGenes: HUgn4308
    ECgene: TRPM1 H-InvDB: TRPM1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TRPM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TRPM1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TRPM1 gene:
    Search GeneIP for patents involving TRPM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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