• Gene id: 4308

Gene Summary

• Gene Symbol: TRPM1   Gene   UCSC   Ensembl
• Aliases: CSNB1C, LTRPC1, MLSN1
• Gene name: transient receptor potential cation channel subfamily M member 1
• Alternate names: transient receptor potential cation channel subfamily M member 1, long transient receptor potential channel 1, melastatin-1, transient receptor potential melastatin family,
• Gene location: 15q13.3 (31161272: 31001060)     Exons: 29     NC_000015.10
• Gene summary(Entrez): 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 syn
• OMIM: 608860

Protein Summary

• Protein general information: Q7Z4N2  
  • Name: Transient receptor potential cation channel subfamily M member 1 (Long transient receptor potential channel 1) (LTrpC1) (Melastatin 1)
  • Length: 1603  
  • Mass: 182178
  • Tissue specificity: Expressed in the retina where it localizes to the outer plexiform layer. Highly expressed in benign melanocytic nevi and diffusely expressed in various in situ melanomas, but not detected in melanoma metastases. Also expressed in melan
• Sequence:

  MKDSNRCCCGQFTNQHIPPLPSATPSKNEEESKQVETQPEKWSVAKHTQSYPTDSYGVLEFQGGGYSNKAMYIRV
  SYDTKPDSLLHLMVKDWQLELPKLLISVHGGLQNFEMQPKLKQVFGKGLIKAAMTTGAWIFTGGVSTGVISHVGD
  ALKDHSSKSRGRVCAIGIAPWGIVENKEDLVGKDVTRVYQTMSNPLSKLSVLNNSHTHFILADNGTLGKYGAEVK
  LRRLLEKHISLQKINTRLGQGVPLVGLVVEGGPNVVSIVLEYLQEEPPIPVVICDGSGRASDILSFAHKYCEEGG
  IINESLREQLLVTIQKTFNYNKAQSHQLFAIIMECMKKKELVTVFRMGSEGQQDIEMAILTALLKGTNVSAPDQL
  SLALAWNRVDIARSQIFVFGPHWPPLGSLAPPTDSKATEKEKKPPMATTKGGRGKGKGKKKGKVKEEVEEETDPR
  KIELLNWVNALEQAMLDALVLDRVDFVKLLIENGVNMQHFLTIPRLEELYNTRLGPPNTLHLLVRDVKKSNLPPD
  YHISLIDIGLVLEYLMGGAYRCNYTRKNFRTLYNNLFGPKRPKALKLLGMEDDEPPAKGKKKKKKKKEEEIDIDV
  DDPAVSRFQYPFHELMVWAVLMKRQKMAVFLWQRGEESMAKALVACKLYKAMAHESSESDLVDDISQDLDNNSKD
  FGQLALELLDQSYKHDEQIAMKLLTYELKNWSNSTCLKLAVAAKHRDFIAHTCSQMLLTDMWMGRLRMRKNPGLK
  VIMGILLPPTILFLEFRTYDDFSYQTSKENEDGKEKEEENTDANADAGSRKGDEENEHKKQRSIPIGTKICEFYN
  APIVKFWFYTISYLGYLLLFNYVILVRMDGWPSLQEWIVISYIVSLALEKIREILMSEPGKLSQKIKVWLQEYWN
  ITDLVAISTFMIGAILRLQNQPYMGYGRVIYCVDIIFWYIRVLDIFGVNKYLGPYVMMIGKMMIDMLYFVVIMLV
  VLMSFGVARQAILHPEEKPSWKLARNIFYMPYWMIYGEVFADQIDLYAMEINPPCGENLYDEEGKRLPPCIPGAW
  LTPALMACYLLVANILLVNLLIAVFNNTFFEVKSISNQVWKFQRYQLIMTFHDRPVLPPPMIILSHIYIIIMRLS
  GRCRKKREGDQEERDRGLKLFLSDEELKRLHEFEEQCVQEHFREKEDEQQSSSDERIRVTSERVENMSMRLEEIN
  ERETFMKTSLQTVDLRLAQLEELSNRMVNALENLAGIDRSDLIQARSRASSECEATYLLRQSSINSADGYSLYRY
  HFNGEELLFEDTSLSTSPGTGVRKKTCSFRIKEEKDVKTHLVPECQNSLHLSLGTSTSATPDGSHLAVDDLKNAE
  ESKLGPDIGISKEDDERQTDSKKEETISPSLNKTDVIHGQDKSDVQNTQLTVETTNIEGTISYPLEETKITRYFP
  DETINACKTMKSRSFVYSRGRKLVGGVNQDVEYSSITDQQLTTEWQCQVQKITRSHSTDIPYIVSEAAVQAEHKE
  QFADMQDEHHVAEAIPRIPRLSLTITDRNGMENLLSVKPDQTLGFPSLRSKSLHGHPRNVKSIQGKLDRSGHASS
  VSSLVIVSGMTAEEKKVKKEKASTETEC

• Structural information:
  • Interpro: IPR005821  IPR029588  IPR041491  IPR032415  IPR037162  
  • STRING: ENSP00000437849
• Other Databases: GeneCards:  TRPM1  Malacards:  TRPM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005262	calcium channel activity	IDA	molecular function
GO:0060402	calcium ion transport into cytosol	IDA	biological process
GO:0007601	visual perception	IMP	biological process
GO:0071482	cellular response to light stimulus	IMP	biological process
GO:0007216	G protein-coupled glutamate receptor signaling pathway	IMP	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0007216	G protein-coupled glutamate receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0051262	protein tetramerization	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0071482	cellular response to light stimulus	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005262	calcium channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0035841	new growing cell tip	IEA	cellular component
GO:0046548	retinal rod cell development	IEA	biological process
GO:0071482	cellular response to light stimulus	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Congenital stationary night blindness	KEGG:H00787
Chromosome 15q13.3 microdeletion syndrome	KEGG:H01877
Congenital stationary night blindness	KEGG:H00787
Chromosome 15q13.3 microdeletion syndrome	KEGG:H01877
Congenital stationary night blindness	PMID:19896113
Congenital stationary night blindness	PMID:19878917
Congenital stationary night blindness	PMID:19896109
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray