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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]
TRPM1 (Transient Receptor Potential Cation Channel Subfamily M Member 1) is a Protein Coding gene. Diseases associated with TRPM1 include Night Blindness, Congenital Stationary, Type 1C and Congenital Stationary Night Blindness. Among its related pathways are CREB Pathway and TRP channels. Gene Ontology (GO) annotations related to this gene include ion channel activity and cation channel activity. An important paralog of this gene is TRPM3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | IEA | -- |
GO:0005261 | cation channel activity | IEA | -- |
GO:0005262 | calcium channel activity | TAS,IDA | 23452348 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 9806836 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ion channel transport | ||
2 | CREB Pathway |
Intracellular Calcium Signaling
.50
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|
3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
4 | TRP channels |
Symbol | External ID(s) | Details |
---|---|---|
FXR1 | ||
POU5F1 | ||
ACTG1 | ||
BCOR | ||
C8orf44-SGK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007216 | G protein-coupled glutamate receptor signaling pathway | IMP | 23452348 |
GO:0007601 | visual perception | IMP | 19878917 |
GO:0034220 | ion transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
hydroxyproline | Experimental | Pharma | 0 | |||
pregnenolone sulphate | Pharma | Antagonist, Activator | 0 | |||
Zn<sup>2+</sup> | Pharma | Allosteric regulator, Negative, Positive, Channel blocker, Inhibition, Potentiation, Agonist, Pore Blocker, Antagonist | 0 | |||
Calcium | Nutra | 6556 | ||||
Proline | Nutra | 44 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRPM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TRPM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TRPM1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trpm1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Trpm1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TRPM1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TRPM1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TRPM1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TRPM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trpm1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | trpm1b 31 |
|
OneToMany | |
trpm1a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG30078 32 |
|
|
|
CG30079 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | gon-2 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636226 | Uncertain Significance: Retinitis pigmentosa | 31,050,432(-) | G/A | MISSENSE_VARIANT | |
645561 | Pathogenic: not provided | 31,042,072(-) | G/A | NONSENSE | |
708603 | Conflicting Interpretations: Congenital stationary night blindness, type 1C; not provided | 31,067,081(-) | T/C | SYNONYMOUS_VARIANT | |
708961 | Conflicting Interpretations: Congenital stationary night blindness, type 1C; not provided | 31,037,768(-) | G/A | SYNONYMOUS_VARIANT | |
709475 | Benign/Likely Benign: Congenital stationary night blindness, type 1C; not provided | 31,067,066(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2534n100 | CNV | loss | 25217958 |
dgv4428n54 | CNV | loss | 21841781 |
esv2658003 | CNV | deletion | 23128226 |
esv2678604 | CNV | deletion | 23128226 |
esv2760394 | CNV | loss | 21179565 |
esv2761861 | CNV | loss | 21179565 |
esv33507 | CNV | loss | 17666407 |
esv3581610 | CNV | loss | 25503493 |
esv3581611 | CNV | loss | 25503493 |
esv3581612 | CNV | loss | 25503493 |
esv3636036 | CNV | gain | 21293372 |
esv3636043 | CNV | loss | 21293372 |
esv3636044 | CNV | loss | 21293372 |
esv3636045 | CNV | gain | 21293372 |
esv3636046 | CNV | loss | 21293372 |
esv3636047 | CNV | loss | 21293372 |
esv3636048 | CNV | loss | 21293372 |
nsv1046874 | CNV | gain | 25217958 |
nsv1050000 | CNV | loss | 25217958 |
nsv456746 | CNV | loss | 19166990 |
nsv477818 | CNV | novel sequence insertion | 20440878 |
nsv520825 | CNV | loss | 19592680 |
nsv525795 | CNV | gain | 19592680 |
nsv568767 | CNV | loss | 21841781 |
nsv820152 | CNV | loss | 19587683 |
nsv832951 | CNV | loss | 17160897 |
nsv832952 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
night blindness, congenital stationary, type 1c |
|
|
congenital stationary night blindness |
|
|
fundus dystrophy |
|
|
inherited retinal disorder |
|
|
night blindness |
|
|