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    TRPM1 transient receptor potential cation channel subfamily M member 1 [ Homo sapiens (human) ]

    Gene ID: 4308, updated on 11-Apr-2024

    Summary

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    Official Symbol
    TRPM1provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily M member 1provided by HGNC
    Primary source
    HGNC:HGNC:7146
    See related
    Ensembl:ENSG00000134160 MIM:603576; AllianceGenome:HGNC:7146
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLSN1; CSNB1C; LTRPC1
    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]
    Expression
    Biased expression in skin (RPKM 2.8) and testis (RPKM 1.1) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q13.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (31001065..31161160, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28795157..28955270, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31293268..31453363, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31195700-31196697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31201877-31202376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31209335-31209834 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31214641-31215582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31215583-31216523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31219875-31220375 Neighboring gene FANCD2 and FANCI associated nuclease 1 Neighboring gene myotubularin related protein 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31246205-31246731 Neighboring gene RNA, U6 small nuclear 466, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:31283406-31283928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:31283929-31284450 Neighboring gene Sharpr-MPRA regulatory region 8183 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283 Neighboring gene uncharacterized LOC105370752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31369248-31369779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31370311-31370842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31370843-31371373 Neighboring gene microRNA 211 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31440177-31440810 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:31442413-31443612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31451146-31451792 Neighboring gene uncharacterized LOC124903454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31517937-31518509 Neighboring gene long intergenic non-protein coding RNA 2352 Neighboring gene long intergenic non-protein coding RNA 3034

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Clinical and genetic findings in TRPM1-related congenital stationary night blindness. Iosifidis C, et al. Acta Ophthalmol, 2022 Sep. PMID 35633130
    2. Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population. Ma C, et al. Genet Test Mol Biomarkers, 2020 Oct. PMID 33001715, Free PMC Article
    3. A case of melanoma-associated retinopathy with autoantibodies against TRPM1. Kim MS, et al. Doc Ophthalmol, 2020 Dec. PMID 32472235
    4. Genetic polymorphisms of transient receptor potential melastatin 1 correlate with voriconazole-related visual adverse events. Jiang YK, et al. Mycoses, 2020 Jun. PMID 32222082
    5. Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness. Al-Hujaili H, et al. Mol Vis, 2019. PMID 31908403, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TRPM1 promotes tumor progression in acral melanoma by activating the Ca[2+]/CaMKIIdelta/AKT pathway.
      Title: TRPM1 promotes tumor progression in acral melanoma by activating the Ca(2+)/CaMKIIδ/AKT pathway.
    2. The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration.
      Title: The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration.
    3. Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
      Title: Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
    4. Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.
      Title: Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.
    5. Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population.
      Title: Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population.
    6. Serum SUR1 and TRPM4 in patients with subarachnoid hemorrhage.
      Title: Serum SUR1 and TRPM4 in patients with subarachnoid hemorrhage.
    7. Genetic polymorphisms of transient receptor potential melastatin 1 correlate with voriconazole-related visual adverse events.
      Title: Genetic polymorphisms of transient receptor potential melastatin 1 correlate with voriconazole-related visual adverse events.
    8. TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
      Title: TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
    9. A case of melanoma-associated retinopathy with autoantibodies against TRPM1.
      Title: A case of melanoma-associated retinopathy with autoantibodies against TRPM1.
    10. A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in TRPM1 was identified in two siblings.
      Title: Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital stationary night blindness 1C
    MedGen: C2750747 OMIM: 613216 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled glutamate receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in cellular response to light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in metal ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic cation transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    transient receptor potential cation channel subfamily M member 1
    Names
    TRPM1-203 APA Isoform, Intron 10
    TRPM1-203 APA Isoform, Intron 3
    long transient receptor potential channel 1
    melastatin-1
    transient receptor potential melastatin family

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016453.2 RefSeqGene

      Range
      64549..165209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252020.2 → NP_001238949.1  transient receptor potential cation channel subfamily M member 1 isoform 1

      See identical proteins and their annotated locations for NP_001238949.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BU743036, HM135791
      Consensus CDS
      CCDS58347.1
      UniProtKB/TrEMBL
      A0A0G2JN34
      Related
      ENSP00000452946.2, ENST00000558445.6
      Conserved Domains (2) summary
      pfam00520
      Location:893 → 1123
      Ion_trans; Ion transport protein
      pfam16519
      Location:1222 → 1273
      TRPM_tetra; Tetramerization domain of TRPM

    2. NM_001252024.2 → NP_001238953.1  transient receptor potential cation channel subfamily M member 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate exon in the 5' coding region. These differences cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC009562, BC058286, BU743036, HM135790
      Consensus CDS
      CCDS58346.1
      UniProtKB/TrEMBL
      A0A0G2JMR4
      Related
      ENSP00000256552.7, ENST00000256552.11
      Conserved Domains (2) summary
      pfam00520
      Location:876 → 1106
      Ion_trans; Ion transport protein
      pfam16519
      Location:1205 → 1256
      TRPM_tetra; Tetramerization domain of TRPM

    3. NM_001252030.2 → NP_001238959.1  transient receptor potential cation channel subfamily M member 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR, and coding region, compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC009562, BC058286, BU741333
      Consensus CDS
      CCDS58345.1
      UniProtKB/Swiss-Prot
      Q7Z4N2
      Related
      ENSP00000453851.1, ENST00000559179.2

    4. NM_002420.6 → NP_002411.3  transient receptor potential cation channel subfamily M member 1 isoform 2

      See identical proteins and their annotated locations for NP_002411.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009562, AF071787, BU743036, BU933033, HM135791
      Consensus CDS
      CCDS10024.2
      UniProtKB/Swiss-Prot
      D9IDV2, D9IDV3, F8W865, H0YN37, O75560, Q6PE48, Q7Z4N1, Q7Z4N2, Q7Z4N3, Q7Z4N4, Q7Z4N5
      UniProtKB/TrEMBL
      A0A0G2JMJ5
      Related
      ENSP00000380897.2, ENST00000397795.7
      Conserved Domains (2) summary
      pfam00520
      Location:854 → 1084
      Ion_trans; Ion transport protein
      pfam16519
      Location:1183 → 1234
      TRPM_tetra; Tetramerization domain of TRPM

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      31001065..31161160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      3174373..3334472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331796.1 → XP_054187771.1  transient receptor potential cation channel subfamily M member 1 isoform X1

    2. XM_054331797.1 → XP_054187772.1  transient receptor potential cation channel subfamily M member 1 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3286825..3446924 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330024.1 → XP_054185999.1  transient receptor potential cation channel subfamily M member 1 isoform X1

    2. XM_054330025.1 → XP_054186000.1  transient receptor potential cation channel subfamily M member 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      28795157..28955270 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377959.1 → XP_054233934.1  transient receptor potential cation channel subfamily M member 1 isoform X3

    2. XM_054377960.1 → XP_054233935.1  transient receptor potential cation channel subfamily M member 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4N2.2 GenPept UniProtKB/Swiss-Prot:Q7Z4N2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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