Property Summary

NCBI Gene PubMed Count 34
PubMed Score 81.81
PubTator Score 55.57

Knowledge Summary

Patent (4,688)

Expression

  Differential Expression (2)

Disease log2 FC p
cutaneous lupus erythematosus -2.200 3.5e-03
Atopic dermatitis 1.100 2.1e-03

Gene RIF (25)

PMID Text
25112866 these data indicate that purified TRPM1 is mostly dimeric. The three-dimensional structure of TRPM1 dimers is characterized by a small putative transmembrane domain and a larger domain with a hollow cavity.
24668847 genotype-phenotype correlations showed that this eye phenotype was secondary to homozygous deletion of TRPM1, the gene responsible for autosomal recessive congenital stationary night blindness. The main differential diagnosis is ceroid lipofuscinosis.
24053997 This is the first reported case of a melanoma-associated retinopathy diagnosed utilizing the innovative approach of testing for serum TRPM1 autoantibodies.
23936334 visual deficits in melanoma associated retinopathy are caused by the uptake of TRPM1 autoantibodies into ON-bipolar cells
23714322 We found 13 different mutations in the TRPM1 gene in congenital stationary night blindness.
23452348 These data suggest differences in coupling of TRPM1 function to mGluR6 signaling explain different cellular responses to glutamate in the retina and the skin.
22735794 The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB),No variations were found in TRPM1.
21896854 In the human retina TRPM1 is expressed on ON-bipolar cell dendrites that invaginate photoreceptor terminals and is also expressed on the synaptic ribbons of a subclass of rods, suggesting a dual function for TRPM1 in the ON-pathway.
21832182 A proteomic search for proteins associated with nyctalopin in the retina identifies TRPM1 as the binding partner.
21611200 This study reveals TRPM1 to be one of the autoantigens targeted by autoantibodies in at least some patients with cancer-associated retinopathy or melanoma-associated retinopathy associated with retinal ON bipolar cell dysfunction.
21439949 present investigation found no evidence for an association between sequence variation at the TRPM1 gene and albumin-to-creatinine ratio in Mexican Americans, although it appears to have modest influence on T2DM risk factors
21290293 summarize and discuss our present knowledge of TRPM1: its discovery, expression, regulation, and proposed functions in skin and eye
21278253 Data demonstrate that TRPM1 proteins are bona fide ion-conducting plasma membrane channels.
20846719 This review covers the significant discoveries related to the physiological function and regulatory mechanism of the TRPM1 channel in retinal ON bipolar cells and the association of human TRPM1 mutations.
20482673 TRPM1 mRNA expression is specific for melanocytes and strongly associated with MITF and tyrosinase expression, the latter implicating a mature melanocyte phenotype
20346272 TRPM1 is mutated in patients with autosomal-recessive congenital stationary night blindness.
20300565 Human TRPM1 mutations are associated with the complete form of congenital stationary night blindness in Japanese patients.
19896113 TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
19896109 Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
19887679 [REVIEW] TRPM1 and TRPM2, are localized in intracellular compartments and are involved in melanin synthesis and oxidative stress-induced cell death
19878917 Recessive mutations of TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness.
19587221 The regulation of TRPM1 by ultraviolet and its role in melanogenesis in epidermal melanocytes are reported.
19436059 Data suggest that TRPM1 is an ion channel whose function is critical to normal melanocyte pigmentation and is thus a potential target for pigmentation disorders.
19396153 These findings suggest that the pattern of TRPM1 mRNA expression may be helpful in the differentiation of Spitz nevi and nodular melanomas.
14744763 studies identify MITF as a major transcriptional regulator of TRPM1 and suggest that its prognostic value may be linked to MITF-mediated regulation of cellular differentiation

AA Sequence

MKDSNRCCCGQFTNQHIPPLPSATPSKNEEESKQVETQPEKWSVAKHTQSYPTDSYGVLEFQGGGYSNKA      1 - 70
MYIRVSYDTKPDSLLHLMVKDWQLELPKLLISVHGGLQNFEMQPKLKQVFGKGLIKAAMTTGAWIFTGGV     71 - 140
STGVISHVGDALKDHSSKSRGRVCAIGIAPWGIVENKEDLVGKDVTRVYQTMSNPLSKLSVLNNSHTHFI    141 - 210
LADNGTLGKYGAEVKLRRLLEKHISLQKINTRLGQGVPLVGLVVEGGPNVVSIVLEYLQEEPPIPVVICD    211 - 280
GSGRASDILSFAHKYCEEGGIINESLREQLLVTIQKTFNYNKAQSHQLFAIIMECMKKKELVTVFRMGSE    281 - 350
GQQDIEMAILTALLKGTNVSAPDQLSLALAWNRVDIARSQIFVFGPHWPPLGSLAPPTDSKATEKEKKPP    351 - 420
MATTKGGRGKGKGKKKGKVKEEVEEETDPRKIELLNWVNALEQAMLDALVLDRVDFVKLLIENGVNMQHF    421 - 490
LTIPRLEELYNTRLGPPNTLHLLVRDVKKSNLPPDYHISLIDIGLVLEYLMGGAYRCNYTRKNFRTLYNN    491 - 560
LFGPKRPKALKLLGMEDDEPPAKGKKKKKKKKEEEIDIDVDDPAVSRFQYPFHELMVWAVLMKRQKMAVF    561 - 630
LWQRGEESMAKALVACKLYKAMAHESSESDLVDDISQDLDNNSKDFGQLALELLDQSYKHDEQIAMKLLT    631 - 700
YELKNWSNSTCLKLAVAAKHRDFIAHTCSQMLLTDMWMGRLRMRKNPGLKVIMGILLPPTILFLEFRTYD    701 - 770
DFSYQTSKENEDGKEKEEENTDANADAGSRKGDEENEHKKQRSIPIGTKICEFYNAPIVKFWFYTISYLG    771 - 840
YLLLFNYVILVRMDGWPSLQEWIVISYIVSLALEKIREILMSEPGKLSQKIKVWLQEYWNITDLVAISTF    841 - 910
MIGAILRLQNQPYMGYGRVIYCVDIIFWYIRVLDIFGVNKYLGPYVMMIGKMMIDMLYFVVIMLVVLMSF    911 - 980
GVARQAILHPEEKPSWKLARNIFYMPYWMIYGEVFADQIDLYAMEINPPCGENLYDEEGKRLPPCIPGAW    981 - 1050
LTPALMACYLLVANILLVNLLIAVFNNTFFEVKSISNQVWKFQRYQLIMTFHDRPVLPPPMIILSHIYII   1051 - 1120
IMRLSGRCRKKREGDQEERDRGLKLFLSDEELKRLHEFEEQCVQEHFREKEDEQQSSSDERIRVTSERVE   1121 - 1190
NMSMRLEEINERETFMKTSLQTVDLRLAQLEELSNRMVNALENLAGIDRSDLIQARSRASSECEATYLLR   1191 - 1260
QSSINSADGYSLYRYHFNGEELLFEDTSLSTSPGTGVRKKTCSFRIKEEKDVKTHLVPECQNSLHLSLGT   1261 - 1330
STSATPDGSHLAVDDLKNAEESKLGPDIGISKEDDERQTDSKKEETISPSLNKTDVIHGQDKSDVQNTQL   1331 - 1400
TVETTNIEGTISYPLEETKITRYFPDETINACKTMKSRSFVYSRGRKLVGGVNQDVEYSSITDQQLTTEW   1401 - 1470
QCQVQKITRSHSTDIPYIVSEAAVQAEHKEQFADMQDEHHVAEAIPRIPRLSLTITDRNGMENLLSVKPD   1471 - 1540
QTLGFPSLRSKSLHGHPRNVKSIQGKLDRSGHASSVSSLVIVSGMTAEEKKVKKEKASTETEC          1541 - 1603
//

Text Mined References (36)

PMID Year Title
25112866 2014 Oligomeric state of purified transient receptor potential melastatin-1 (TRPM1), a protein essential for dim light vision.
24668847 2014 Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
24053997 2013 Diagnosis of occult melanoma using transient receptor potential melastatin 1 (TRPM1) autoantibody testing: a novel approach.
23936334 2013 Serum TRPM1 autoantibodies from melanoma associated retinopathy patients enter retinal on-bipolar cells and attenuate the electroretinogram in mice.
23714322 2013 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
23452348 2013 Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes.
22735794 2012 Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
21896854 2011 Ultrastructural localization and expression of TRPM1 in the human retina.
21832182 2011 TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.
21611200 2011 Identification of autoantibodies against TRPM1 in patients with paraneoplastic retinopathy associated with ON bipolar cell dysfunction.
21439949 2011 Genetic variants in transient receptor potential cation channel, subfamily M 1 (TRPM1) and their risk of albuminuria-related traits in Mexican Americans.
21290293 2011 TRPM1: new trends for an old TRP.
21278253 2011 Transient receptor potential melastatin 1 (TRPM1) is an ion-conducting plasma membrane channel inhibited by zinc ions.
20846719 TRPM1: a vertebrate TRP channel responsible for retinal ON bipolar function.
20482673 2010 The correlation of TRPM1 (Melastatin) mRNA expression with microphthalmia-associated transcription factor (MITF) and other melanogenesis-related proteins in normal and pathological skin, hair follicles and melanocytic nevi.
20346272 2010 [TRPM1, a new gene implicated in congenital stationary night blindness].
20300565 2010 TRPM1 mutations are associated with the complete form of congenital stationary night blindness.
19896113 2009 TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
19896109 2009 Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
19887679 2009 In with the TRP channels: intracellular functions for TRPM1 and TRPM2.
19878917 2009 Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
19721433 2011 Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
19587221 2009 Calcium homeostasis in human melanocytes: role of transient receptor potential melastatin 1 (TRPM1) and its regulation by ultraviolet light.
19436059 2009 TRPM1 forms ion channels associated with melanin content in melanocytes.
19396153 2009 TRPM1 (Melastatin-1/MLSN1) mRNA expression in Spitz nevi and nodular melanomas.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16382100 2005 International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14744763 2004 Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11535825 2001 Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform.
11112417 2000 Expression and Up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells.
9806836 1998 Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1).
9537257 1998 Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.