TRPM1 (transient receptor potential cation channel subfamily M member 1)

Gene

• Entrez ID: 4308
• Gene name: Transient receptor potential cation channel subfamily M member 1
• Gene symbol: TRPM1
• Synonyms: CSNB1C, LTRPC1, MLSN1
• Chromosome: 15
• Chromosome location: 15q13.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138886378	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs150441866	A>C	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs191205969	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs267607139	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607141	G>A	Pathogenic	Coding sequence variant, stop gained
rs372529012	A>C,G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs387906862	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs763546583	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs768701595	C>T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs770561064	C>T	Likely-pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs772011426	TTAC>-	Pathogenic	Intron variant, splice donor variant, genic downstream transcript variant
rs1555424166	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555424849	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1596017653	A>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1596029830	T>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029939	hsa-miR-26b-5p	Microarray	19088304
MIRT515354	hsa-miR-4438	PAR-CLIP	23446348
MIRT515355	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT515353	hsa-miR-4252	PAR-CLIP	23446348
MIRT515352	hsa-miR-5095	PAR-CLIP	23446348
MIRT515351	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515350	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515349	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT515354	hsa-miR-4438	PAR-CLIP	23446348
MIRT515355	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT515353	hsa-miR-4252	PAR-CLIP	23446348
MIRT515352	hsa-miR-5095	PAR-CLIP	23446348
MIRT515351	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515350	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515349	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT1457294	hsa-miR-1273f	CLIP-seq
MIRT1457295	hsa-miR-34c-3p	CLIP-seq
MIRT1457296	hsa-miR-4423-5p	CLIP-seq
MIRT1457297	hsa-miR-4781-3p	CLIP-seq
MIRT2137122	hsa-miR-4427	CLIP-seq
MIRT2137123	hsa-miR-4680-3p	CLIP-seq
MIRT2357918	hsa-miR-106a	CLIP-seq
MIRT2357919	hsa-miR-106b	CLIP-seq
MIRT2357920	hsa-miR-150	CLIP-seq
MIRT2357921	hsa-miR-17	CLIP-seq
MIRT2357922	hsa-miR-20a	CLIP-seq
MIRT2357923	hsa-miR-20b	CLIP-seq
MIRT2357924	hsa-miR-302a	CLIP-seq
MIRT2357925	hsa-miR-302b	CLIP-seq
MIRT2357926	hsa-miR-302c	CLIP-seq
MIRT2357927	hsa-miR-302d	CLIP-seq
MIRT2357928	hsa-miR-302e	CLIP-seq
MIRT2357929	hsa-miR-3159	CLIP-seq
MIRT2357930	hsa-miR-372	CLIP-seq
MIRT2357931	hsa-miR-373	CLIP-seq
MIRT2357932	hsa-miR-4282	CLIP-seq
MIRT2137122	hsa-miR-4427	CLIP-seq
MIRT2137123	hsa-miR-4680-3p	CLIP-seq
MIRT2357933	hsa-miR-4757-5p	CLIP-seq
MIRT2357934	hsa-miR-519d	CLIP-seq
MIRT2357935	hsa-miR-520a-3p	CLIP-seq
MIRT2357936	hsa-miR-520b	CLIP-seq
MIRT2357937	hsa-miR-520c-3p	CLIP-seq
MIRT2357938	hsa-miR-520d-3p	CLIP-seq
MIRT2357939	hsa-miR-520e	CLIP-seq
MIRT2357940	hsa-miR-520g	CLIP-seq
MIRT2357941	hsa-miR-520h	CLIP-seq
MIRT2357942	hsa-miR-93	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Activation	14744763;15577322
MITF	Unknown	20482673

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005261	Function	Cation channel activity	IBA	21873635
GO:0005262	Function	Calcium channel activity	IBA	21873635
GO:0005262	Function	Calcium channel activity	IDA	23452348
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IMP	23452348
GO:0007601	Process	Visual perception	IMP	19878917
GO:0051262	Process	Protein tetramerization	IEA
GO:0060402	Process	Calcium ion transport into cytosol	IBA	21873635
GO:0060402	Process	Calcium ion transport into cytosol	IDA	23452348
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0071482	Process	Cellular response to light stimulus	IMP	19896109
GO:0098655	Process	Cation transmembrane transport	IBA	21873635

Other IDs

• MIM: 603576
• HGNC: 7146
• e!Ensembl: ENSG00000134160

Protein

• UniProt ID: Q7Z4N2
• Protein name: Transient receptor potential cation channel subfamily M member 1 (Long transient receptor potential channel 1) (LTrpC1) (Melastatin-1)
• Protein function: Constitutively open nonselective divalent cation-conducting channels which mediate the influx of Ca(2+), Mg(2+), Mn(2+), Ba(2+), and Ni(2+) into the cytoplasm, leading to membrane depolarization (PubMed:11535825, PubMed:19436059, PubMed:21278253
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18139	LSDAT_euk	70 → 335	SLOG in TRPM	Family
  PF00520	Ion_trans	828 → 1087	Ion transport protein	Family
  PF16519	TRPM_tetra	1179 → 1234	Tetramerisation domain of TRPM	Domain

• Sequence:

  MKDSNRCCCGQFTNQHIPPLPSATPSKNEEESKQVETQPEKWSVAKHTQSYPTDSYGVLE
  FQGGGYSNKAMYIRVSYDTKPDSLLHLMVKDWQLELPKLLISVHGGLQNFEMQPKLKQVF
  GKGLIKAAMTTGAWIFTGGVSTGVISHVGDALKDHSSKSRGRVCAIGIAPWGIVENKEDL
  VGKDVTRVYQTMSNPLSKLSVLNNSHTHFILADNGTLGKYGAEVKLRRLLEKHISLQKIN
  TRLGQGVPLVGLVVEGGPNVVSIVLEYLQEEPPIPVVICDGSGRASDILSFAHKYCEEGG
  IINESLREQLLVTIQKTFNYNKAQSHQLFAIIMECMKKKELVTVFRMGSEGQQDIEMAIL
  TALLKGTNVSAPDQLSLALAWNRVDIARSQIFVFGPHWPPLGSLAPPTDSKATEKEKKPP
  MATTKGGRGKGKGKKKGKVKEEVEEETDPRKIELLNWVNALEQAMLDALVLDRVDFVKLL
  IENGVNMQHFLTIPRLEELYNTRLGPPNTLHLLVRDVKKSNLPPDYHISLIDIGLVLEYL
  MGGAYRCNYTRKNFRTLYNNLFGPKRPKALKLLGMEDDEPPAKGKKKKKKKKEEEIDIDV
  DDPAVSRFQYPFHELMVWAVLMKRQKMAVFLWQRGEESMAKALVACKLYKAMAHESSESD
  LVDDISQDLDNNSKDFGQLALELLDQSYKHDEQIAMKLLTYELKNWSNSTCLKLAVAAKH
  RDFIAHTCSQMLLTDMWMGRLRMRKNPGLKVIMGILLPPTILFLEFRTYDDFSYQTSKEN
  EDGKEKEEENTDANADAGSRKGDEENEHKKQRSIPIGTKICEFYNAPIVKFWFYTISYLG
  YLLLFNYVILVRMDGWPSLQEWIVISYIVSLALEKIREILMSEPGKLSQKIKVWLQEYWN
  ITDLVAISTFMIGAILRLQNQPYMGYGRVIYCVDIIFWYIRVLDIFGVNKYLGPYVMMIG
  KMMIDMLYFVVIMLVVLMSFGVARQAILHPEEKPSWKLARNIFYMPYWMIYGEVFADQID
  LYAMEINPPCGENLYDEEGKRLPPCIPGAWLTPALMACYLLVANILLVNLLIAVFNNTFF
  EVKSISNQVWKFQRYQLIMTFHDRPVLPPPMIILSHIYIIIMRLSGRCRKKREGDQEERD
  RGLKLFLSDEELKRLHEFEEQCVQEHFREKEDEQQSSSDERIRVTSERVENMSMRLEEIN
  ERETFMKTSLQTVDLRLAQLEELSNRMVNALENLAGIDRSDLIQARSRASSECEATYLLR
  QSSINSADGYSLYRYHFNGEELLFEDTSLSTSPGTGVRKKTCSFRIKEEKDVKTHLVPEC
  QNSLHLSLGTSTSATPDGSHLAVDDLKNAEESKLGPDIGISKEDDERQTDSKKEETISPS
  LNKTDVIHGQDKSDVQNTQLTVETTNIEGTISYPLEETKITRYFPDETINACKTMKSRSF
  VYSRGRKLVGGVNQDVEYSSITDQQLTTEWQCQVQKITRSHSTDIPYIVSEAAVQAEHKE
  QFADMQDEHHVAEAIPRIPRLSLTITDRNGMENLLSVKPDQTLGFPSLRSKSLHGHPRNV
  KSIQGKLDRSGHASSVSSLVIVSGMTAEEKKVKKEKASTETEC

• Sequence length: 1603

Pathways

Reactome:

TRP channels

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26830138
Congenital stationary night blindness	Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness	rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911, rs122456133, rs122456134, rs122456135, rs2147483647, rs104893789, rs104893790, rs104893796, rs121918582, rs104893740, rs80359870, rs387906862, rs786205113, rs772011426, rs281875234, rs794726685, rs387907138, rs773126191, rs770066665, rs794726686, rs397509379, rs397509380, rs61750168, rs281865186, rs281865194, rs150115958, rs786205852, rs786205853, rs786205854, rs778390089, rs869312176, rs879253773, rs879253774, rs886039559, rs886039560, rs886043488, rs1057518829, rs104893793, rs1553186509, rs61751398, rs781463257, rs531851447, rs770380556, rs748046539, rs1555418784, rs1555424166, rs781610444, rs1555424849, rs1555966753, rs1555967281, rs1557106008, rs1557107192, rs1557107417, rs1557108147, rs1557109796, rs1557109912, rs1557110046, rs1557110192, rs1557110499, rs1557110988, rs372529012, rs374913800, rs1410075831, rs766780281, rs1555967031, rs1566945534, rs777989874, rs782581701, rs1485132228, rs1567728372, rs1567725425, rs150441866, rs1358925739, rs779821510, rs1590998813, rs1594580431, rs777168556, rs763546583, rs1290420698, rs765645888, rs1596029830, rs1602180478, rs1602180791, rs1602181006, rs1602181043, rs1602181253, rs1602627593, rs782740998, rs1602630650, rs1602639607, rs1602641426, rs1602644716, rs1602658505, rs1602628429, rs2065841382, rs1596017653, rs769355168, rs1578278438, rs984572250, rs775166854, rs2065717735
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30130595
Age-related macular degeneration	Age related macular degeneration	rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475	28813576
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21970977

Unknown
Disease name	Disease term	dbSNP ID	References
Disorder of eye	Disorder of eye
Eczema	Eczema
Hypoplasia of optic disc	Hypoplasia of optic disc
Night blindness	Night blindness, congenital stationary, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder), NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C, Night Blindness, Congenital Stationary, Type 1A, Night blindness, congenital stationary, type 1		19896109, 19896113, 26872967, 20300565, 19896113, 19896109, 19878917
Nyctalopia	Nyctalopia
Strabismus	Strabismus
Congenital stationary night blindness, x-linked	X-Linked Csnb	rs201620180, rs762960396