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

Gene ID: 4308, updated on 22-Aug-2020

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
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

Genomic context

See TRPM1 in Genome Data Viewer
Location:
15q13.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (31001065..31161160, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31293264..31453476, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene FANCD2 and FANCI associated nuclease 1 Neighboring gene myotubularin related protein 10 Neighboring gene RNA, U6 small nuclear 466, pseudogene Neighboring gene uncharacterized LOC105370752 Neighboring gene microRNA 211 Neighboring gene Sharpr-MPRA regulatory region 5138 Neighboring gene long intergenic non-protein coding RNA 2352 Neighboring gene uncharacterized LOC283710

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, type 1C
MedGen: C2750747 OMIM: 613216 GeneReviews: Not available
Compare labs
Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled glutamate receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
calcium ion transport into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transport into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cation transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
divalent metal ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tetramerization IEA
Inferred from Electronic Annotation
more info
 
retinal rod cell development IEA
Inferred from Electronic Annotation
more info
 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

Preferred Names
transient receptor potential cation channel subfamily M member 1
Names
long transient receptor potential channel 1
melastatin-1
transient receptor potential melastatin family

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q7Z4N2
    Related
    ENSP00000437849.1, ENST00000542188.5
    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/Swiss-Prot
    Q7Z4N2
    Related
    ENSP00000256552.6, ENST00000256552.10
    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, ENST00000559179.1
  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
    Q7Z4N2
    Related
    ENSP00000380897.2, ENST00000397795.6
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p13 PATCHES

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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