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

Gene ID: 4308, updated on 8-Apr-2014
Official Symbol
TRPM1provided by HGNC
Official Full Name
transient receptor potential cation channel, subfamily M, member 1provided by HGNC
Primary source
HGNC:7146
See related
Ensembl:ENSG00000134160; HPRD:04656; MIM:603576; Vega:OTTHUMG00000129267
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]
Location :
15q13.3
Sequence :
Chromosome: 15; NC_000015.10 (31001061..31161273, complement)
See TRPM1 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene FANCD2/FANCI-associated nuclease 1 Neighboring gene transmembrane protein 183A pseudogene Neighboring gene myotubularin related protein 10 Neighboring gene microRNA 211 Neighboring gene uncharacterized LOC283710 Neighboring gene Kruppel-like factor 13

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

Description
Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • TRP channels, organism-specific biosystem (from REACTOME)
    TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
G-protein coupled glutamate receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
calcium ion transport into cytosol IDA
Inferred from Direct Assay
more info
 
cellular response to light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
retinal rod cell development IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
new growing cell tip IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
transient receptor potential cation channel subfamily M member 1
Names
transient receptor potential cation channel subfamily M member 1
melastatin-1
long transient receptor potential channel 1
transient receptor potential melastatin family

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_016453.1 RefSeqGene

    Range
    4996..105661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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/Swiss-Prot
    Q7Z4N2
    Related
    ENSP00000437849, ENST00000542188
    Conserved Domains (1) summary
    pfam00520
    Location:9011113
    Blast Score: 235
    Ion_trans; Ion transport protein
  2. NM_001252024.1NP_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/Swiss-Prot
    Q7Z4N2
    Related
    ENSP00000256552, OTTHUMP00000247778, ENST00000256552, OTTHUMT00000417166
    Conserved Domains (1) summary
    pfam00520
    Location:8841096
    Blast Score: 235
    Ion_trans; Ion transport protein
  3. NM_001252030.1NP_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, OTTHUMP00000247780, ENST00000559179, OTTHUMT00000417168
  4. NM_002420.5NP_002411.3  transient receptor potential cation channel subfamily M member 1 isoform 2

    See proteins identical to 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
    Q7Z4N2
    Related
    ENSP00000380897, OTTHUMP00000159584, ENST00000397795, OTTHUMT00000251378
    Conserved Domains (1) summary
    pfam00520
    Location:8621074
    Blast Score: 235
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1

    Range
    3286821..3447037, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725544.1XP_006725607.1  

    Conserved Domains (1) summary
    pfam00520
    Location:7921004
    Blast Score: 232
    Ion_trans; Ion transport protein

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38 Primary Assembly

    Range
    31001061..31161273, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000147.1 Alternate HuRef

    Range
    8470226..8630487, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    31284115..31444331, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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