Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4308
Gene name Gene Name - the full gene name approved by the HGNC.	Transient receptor potential cation channel subfamily M member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TRPM1
Synonyms (NCBI Gene) Gene synonyms aliases	CSNB1C, LTRPC1, MLSN1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CSNB1C
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(15)

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

Show/Hide all(48)

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

Show/Hide all(2)

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

Show/Hide all(13)

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

MIM	HGNC	e!Ensembl
603576	7146	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

Tissue specificity

TISSUE SPECIFICITY: Expressed in the retina where it localizes to the outer plexiform layer. Specifically, it is expressed in retinal bipolar cells (BPCs) of the ON subtype (PubMed:30027108). Highly expressed in benign melanocytic nevi and diffusely expre

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

Interactions

View interactions

	Reactome
			TRP channels

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	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 View all (100 more)
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	30130595
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152 View all (20 more)	28813576
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	21970977

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Congenital stationary night blindness, x-linked	X-Linked Csnb	ClinVar
Huntington Disease	Huntington Disease	GWAS
Myasthenia Gravis	Myasthenia Gravis	GWAS
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
Albuminuria	Associate	21439949
Atrial Fibrillation	Stimulate	28839241
Autistic Disorder	Associate	23375656
Bipolar Disorder	Associate	19878917
Cataract	Associate	37511188
Cognitive Dysfunction	Associate	37107586
Drug Related Side Effects and Adverse Reactions	Associate	30194076
Fetal Alcohol Spectrum Disorders	Associate	35633130
Glioblastoma	Associate	34238116
Horse Diseases	Associate	19896113
Hypertensive Retinopathy	Associate	35633130
Macular Degeneration	Associate	28813576, 31995762
Melanoma	Inhibit	19396153, 20482673
Melanoma	Associate	22897572, 35181301
Melanoma Cutaneous Malignant	Associate	19396153, 22897572
Myopia	Associate	31908403, 34064005
Neoplasm Metastasis	Inhibit	19587221
Neoplasm Metastasis	Associate	21072171
Neoplasms	Inhibit	21072171
Nevus Epithelioid and Spindle Cell	Associate	19396153
Nevus Pigmented	Associate	20482673
Night blindness congenital stationary	Associate	19878917, 19896109, 19896113, 23452348, 24715752, 29522070, 31427709, 31908403, 34064005, 35633130, 35872165, 36499293
Nystagmus Pathologic	Associate	31908403, 34064005
Pigmentation Disorders	Associate	35181301
Poroma	Associate	19396153
Retinal Degeneration	Associate	31908403

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