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TRPM1

Family: Transient Receptor Potential channels

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Tissue Distribution
Functional Assays
Physiological Functions
Phenotypes, Alleles and Disease Models
Clinically-Relevant Mutations and Pathophysiology
Gene Expression and Pathophysiology
General Comments
References
Gene and Protein Information
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 6 0 1603 15q13-q14 TRPM1 transient receptor potential cation channel, subfamily M, member 1 1-4
Mouse 6 0 1506 7 C Trpm1 transient receptor potential cation channel, subfamily M, member 1
Rat 6 0 1628 1q22 Trpm1 transient receptor potential cation channel, subfamily M, member 1
Previous and Unofficial Names
MLSN1
LTRPC1
Melastatin
melastatin 1
melastatin-1
transient receptor potential cation channel subfamily M member 1
transient receptor potential cation channel, subfamily M, member 1
4732499L03Rik
AI606771
Database Links
Ensembl ENSG00000134160 (Hs), ENSMUSG00000030523 (Mm), ENSRNOG00000015829 (Rn)
Entrez Gene 4308 (Hs), 17364 (Mm), 361586 (Rn)
GeneCards TRPM1 (Hs)
GenitoUrinary Development Molecular Anatomy Project Trpm1 (Mm)
HomoloGene 19940 (Hs)
Human Protein Reference Database 04656 (Hs)
InterPro Q7Z4N2 (Hs), Q2TV84 (Mm), Q2WEA5 (Rn)
KEGG Gene hsa:4308 (Hs), mmu:17364 (Mm), rno:361586 (Rn)
OMIM 603576 (Hs)
Orphanet Gene ORPHA225280 (Hs)
PharmGKB Gene PA35496 (Hs)
PhosphoSitePlus Q7Z4N2 (Hs), Q2TV84 (Mm)
Protein Ontology (PRO) PRO:000016697 (Hs)
RefSeq Nucleotide NM_002420 (Hs), NM_018752 (Mm), NM_001037734 (Rn)
RefSeq Protein NP_002411 (Hs), NP_061222 (Mm), NP_001032823 (Rn)
TreeFam ENSG00000134160 (Hs), ENSMUSG00000030523 (Mm), ENSRNOG00000015829 (Rn)
UniGene Hs. 155942 (Hs)
UniProt Q7Z4N2 (Hs), Q2TV84 (Mm), Q2WEA5 (Rn)
Wikipedia TRPM1
Transient Receptor Potential channels
Search for 3D structures on the PDB
Search by keyword: Transient Receptor Potential channels TRPM1 Search by accession number: Q2TV84, Q7Z4N2, Q2WEA5
Ion Selectivity and Conductance
Not Determined
Voltage Dependence
Not Determined
Tissue Distribution
Melanocytes
Species:  Human
Technique:  Immunocytochemistry, RT-PCR, Western Blot, Northern Blot.
References:  1-4
Functional Assays
Ca2+ imaging.
Species:  Human
Tissue:  Heterologous overexpression in HEK 293 cells.
Response measured:  Ca2+ influx.
References:  5
Physiological Functions
Tumour suppressor: in human melanocytic primary neoplasms, an inverse correlation with melanoma exists, i.e. loss of TRPM1 expression correlates with melanoma thickness.
Species:  Human
Tissue:  Skin.
References:  1-4
Phenotypes, Alleles and Disease Models Mouse data from MGI

Click here to show/hide data

Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Trpm1tm1Lex Trpm1tm1Lex/Trpm1tm1Lex
involves: 129S/SvEvBrd		 MGI:1330305  MP:0004022 abnormal cone electrophysiology PMID: 19861548 
Trpm1tm1Tfur Trpm1tm1Tfur/Trpm1tm1Tfur
involves: 129S6/SvEvTac		 MGI:1330305  MP:0004022 abnormal cone electrophysiology PMID: 19966281 
Trpm1tm1Lex Trpm1tm1Lex/Trpm1tm1Lex
involves: 129S/SvEvBrd		 MGI:1330305  MP:0005551 abnormal eye electrophysiology PMID: 19861548 
Trpm1tm1Lex Trpm1tm1Lex/Trpm1tm1Lex
involves: 129S/SvEvBrd		 MGI:1330305  MP:0005253 abnormal eye physiology PMID: 19861548 
Trpm1tm1Lex Trpm1tm1Lex/Trpm1tm1Lex
involves: 129S/SvEvBrd		 MGI:1330305  MP:0004021 abnormal rod electrophysiology PMID: 19861548 
Trpm1tm1Tfur Trpm1tm1Tfur/Trpm1tm1Tfur
involves: 129S6/SvEvTac		 MGI:1330305  MP:0004021 abnormal rod electrophysiology PMID: 19966281 
Trpm1tm1Lex Trpm1tm1Lex/Trpm1tm1Lex
involves: 129S/SvEvBrd		 MGI:1330305  MP:0002090 abnormal vision PMID: 19861548 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Night blindness, congenital stationary, type 1C; CSNB1C
OMIM:  613216
Orphanet:  215
References: 
Mutations not determined
Gene Expression and Pathophysiology
Downregulation of expression is correlated with metastasis and poor prognosis in melanoma.
Tissue or cell type:  pigmented melanoma cell lines.
Pathophysiology: 
Species:  Human
Technique:  Immunocytochemistry, RT-PCR, western blot, northern blot.
References:  1-4
General Comments
Constitutively open Ca2+ entry channel, whose membrane insertion may be regulated by a short isoform (MLSN-S, 500 aa) [5]. Identified as a tumour suppressor, however channel function has not yet clearly been shown. Microphthalmia-associated transcription factor (MITF) induces expression of TRPM1 [4,6].

REFERENCES

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1. Duncan, LM; Deeds, J; Cronin, FE; Donovan, M; Sober, AJ; Kauffman, M; McCarthy, JJ. (2001) Melastatin expression and prognosis in cutaneous malignant melanoma. J. Clin. Oncol., 19 (2): 568-76. [PMID:11208852]

2. Duncan, LM; Deeds, J; Hunter, J; Shao, J; Holmgren, LM; Woolf, EA; Tepper, RI; Shyjan, AW. (1998) Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. Cancer Res., 58 (7): 1515-20. [PMID:9537257]

3. Hunter, JJ; Shao, J; Smutko, JS; Dussault, BJ; Nagle, DL; Woolf, EA; Holmgren, LM; Moore, KJ; Shyjan, AW. (1998) Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). Genomics, 54 (1): 116-23. [PMID:9806836]

4. Miller, AJ; Du, J; Rowan, S; Hershey, CL; Widlund, HR; Fisher, DE. (2004) Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma. Cancer Res., 64 (2): 509-16. [PMID:14744763]

5. Xu, XZ; Moebius, F; Gill, DL; Montell, C. (2001) Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform. Proc. Natl. Acad. Sci. U.S.A., 98 (19): 10692-7. [PMID:11535825]

6. Zhiqi, S; Soltani, MH; Bhat, KM; Sangha, N; Fang, D; Hunter, JJ; Setaluri, V. (2004) Human melastatin 1 (TRPM1) is regulated by MITF and produces multiple polypeptide isoforms in melanocytes and melanoma. Melanoma Res., 14 (6): 509-16. [PMID:15577322]

To cite this database page, please use the following:

David E. Clapham, Bernd Nilius, Grzegorz Owsianik.
Transient Receptor Potential channels: TRPM1. Last modified on 20/01/2012. Accessed on 23/05/2013. IUPHAR database (IUPHAR-DB), http://iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=493.


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