Property Summary

NCBI Gene PubMed Count 34
Grant Count 35
R01 Count 15
Funding $3,227,945.02
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 0.003
Atopic dermatitis 1.100 0.002

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.
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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.
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