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

    Gene ID: 4308, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TRPM1 in Genome Data Viewer
    Location:
    15q13.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (31001065..31161160, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28795157..28955270, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    enables monoatomic cation transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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)

    NEW Try the new Transcript table

    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_001252020.2NP_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:8931123
      Ion_trans; Ion transport protein
      pfam16519
      Location:12221273
      TRPM_tetra; Tetramerization domain of TRPM
    2. NM_001252024.2NP_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:8761106
      Ion_trans; Ion transport protein
      pfam16519
      Location:12051256
      TRPM_tetra; Tetramerization domain of TRPM
    3. NM_001252030.2NP_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_002420.6NP_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:8541084
      Ion_trans; Ion transport protein
      pfam16519
      Location:11831234
      TRPM_tetra; Tetramerization domain of TRPM

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_054331796.1XP_054187771.1  transient receptor potential cation channel subfamily M member 1 isoform X1

    2. XM_054331797.1XP_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_054330024.1XP_054185999.1  transient receptor potential cation channel subfamily M member 1 isoform X1

    2. XM_054330025.1XP_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_054377959.1XP_054233934.1  transient receptor potential cation channel subfamily M member 1 isoform X3

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