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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4308
Gene name	Transient receptor potential cation channel subfamily M member 1
Gene symbol	TRPM1
Synonyms (NCBI Gene)	CSNB1CLTRPC1MLSN1
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

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

Show/Hide all (2)

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

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IDA	23452348
GO:0005262	Function	Calcium channel activity	TAS	9806836
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	30027108
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9806836
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IBA
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IMP	23452348
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	19878917
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	IDA	21278253
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0051262	Process	Protein tetramerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0071482	Process	Cellular response to light stimulus	IMP	19896109
GO:0098655	Process	Monoatomic cation transmembrane transport	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	21278253
GO:0098703	Process	Calcium ion import across plasma membrane	IDA	23452348

MIM	HGNC	e!Ensembl
603576	7146	ENSG00000134160

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

295

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital stationary night blindness	Pathogenic; Likely pathogenic	rs770380556, rs748046539, rs1555418784, rs1555424166, rs781610444, rs1555424849, rs1485132228, rs765645888, rs1596029830	RCV000505084 RCV000504895 RCV000504632 RCV000505098 RCV000504906 RCV000504718 RCV001003230 RCV001003231 RCV001003233
Congenital stationary night blindness 1C	Likely pathogenic; Pathogenic	rs180869804, rs2141098146, rs1195734631, rs754705612, rs773030662, rs1226505973, rs749930261, rs2504151460, rs759370186, rs778390089, rs766862238, rs267607140, rs267607141, rs747553429, rs869312176 View all (11 more)	RCV002488206 RCV001542686 RCV001785091 RCV001783913 RCV001783914 RCV002460350 RCV006257349 RCV002291126 RCV003992700 RCV001542687 RCV000006601 RCV000006603 RCV000006604 RCV005631085 RCV000210285 RCV000023310 RCV000023311 RCV000023312 RCV000505592 RCV000785957 RCV000778427 RCV003133622 RCV005359738 RCV001029885 RCV001198800 RCV001262194
Intellectual disability	Likely pathogenic	rs2033825467	RCV001255343
Retinal disorder	Likely pathogenic; Pathogenic	rs369742878	RCV006276073
Retinal dystrophy	Pathogenic; Likely pathogenic	rs749930261, rs2034398158, rs2034427266, rs760391688, rs766396216	RCV004816930 RCV001074672 RCV001075105 RCV001074146 RCV004813913
TRPM1-related disorder	Likely pathogenic; Pathogenic	rs369742878, rs779821510, rs765645888	RCV003422046 RCV003411717 RCV003413796

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign; Likely benign	rs201162331	RCV005909603
Cone-rod dystrophy	Benign; Likely benign	rs117855013	RCV005626257
Congenital Stationary Night Blindness, Recessive	Uncertain significance	rs886051028, rs563082388, rs760089242, rs753959724	RCV000316199 RCV000395867 RCV000357534 RCV000339729
Ependymoma	Uncertain significance	rs1555424877	RCV000577841
Hereditary macular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs148802607, rs753584603	RCV005626425 RCV005626580
Melanoma	Conflicting classifications of pathogenicity	rs188852505	RCV005913769
Night blindness	Conflicting classifications of pathogenicity	rs768701595	RCV004798815
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs200684841, rs117105175, rs117855013	RCV004816271 RCV004816555 RCV004813851
Retinitis pigmentosa	Uncertain significance; Conflicting classifications of pathogenicity	rs371853965, rs138886378	RCV000787921 RCV000787888

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)