TRPM1

Protein identityUniProt · HPA

UniProt accession

Q7Z4N2

Gene

TRPM1

Ensembl

ENSG00000134160

Chromosome

15

Canonical length

1603 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels

Subcellular location

Golgi apparatus,Plasma membrane,Centriolar satellite

OverviewNCBI 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 synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

1603 residues, UniProt reviewed canonical sequence.

>Q7Z4N2|TRPM1
     1  MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS YPTDSYGVLE
    61  FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL ISVHGGLQNF EMQPKLKQVF
   121  GKGLIKAAMT TGAWIFTGGV STGVISHVGD ALKDHSSKSR GRVCAIGIAP WGIVENKEDL
   181  VGKDVTRVYQ TMSNPLSKLS VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN
   241  TRLGQGVPLV GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG
   301  IINESLREQL LVTIQKTFNY NKAQSHQLFA IIMECMKKKE LVTVFRMGSE GQQDIEMAIL
   361  TALLKGTNVS APDQLSLALA WNRVDIARSQ IFVFGPHWPP LGSLAPPTDS KATEKEKKPP
   421  MATTKGGRGK GKGKKKGKVK EEVEEETDPR KIELLNWVNA LEQAMLDALV LDRVDFVKLL
   481  IENGVNMQHF LTIPRLEELY NTRLGPPNTL HLLVRDVKKS NLPPDYHISL IDIGLVLEYL
   541  MGGAYRCNYT RKNFRTLYNN LFGPKRPKAL KLLGMEDDEP PAKGKKKKKK KKEEEIDIDV
   601  DDPAVSRFQY PFHELMVWAV LMKRQKMAVF LWQRGEESMA KALVACKLYK AMAHESSESD
   661  LVDDISQDLD NNSKDFGQLA LELLDQSYKH DEQIAMKLLT YELKNWSNST CLKLAVAAKH
   721  RDFIAHTCSQ MLLTDMWMGR LRMRKNPGLK VIMGILLPPT ILFLEFRTYD DFSYQTSKEN
   781  EDGKEKEEEN TDANADAGSR KGDEENEHKK QRSIPIGTKI CEFYNAPIVK FWFYTISYLG
   841  YLLLFNYVIL VRMDGWPSLQ EWIVISYIVS LALEKIREIL MSEPGKLSQK IKVWLQEYWN
   901  ITDLVAISTF MIGAILRLQN QPYMGYGRVI YCVDIIFWYI RVLDIFGVNK YLGPYVMMIG
   961  KMMIDMLYFV VIMLVVLMSF GVARQAILHP EEKPSWKLAR NIFYMPYWMI YGEVFADQID
  1021  LYAMEINPPC GENLYDEEGK RLPPCIPGAW LTPALMACYL LVANILLVNL LIAVFNNTFF
  1081  EVKSISNQVW KFQRYQLIMT FHDRPVLPPP MIILSHIYII IMRLSGRCRK KREGDQEERD
  1141  RGLKLFLSDE ELKRLHEFEE QCVQEHFREK EDEQQSSSDE RIRVTSERVE NMSMRLEEIN
  1201  ERETFMKTSL QTVDLRLAQL EELSNRMVNA LENLAGIDRS DLIQARSRAS SECEATYLLR
  1261  QSSINSADGY SLYRYHFNGE ELLFEDTSLS TSPGTGVRKK TCSFRIKEEK DVKTHLVPEC
  1321  QNSLHLSLGT STSATPDGSH LAVDDLKNAE ESKLGPDIGI SKEDDERQTD SKKEETISPS
  1381  LNKTDVIHGQ DKSDVQNTQL TVETTNIEGT ISYPLEETKI TRYFPDETIN ACKTMKSRSF
  1441  VYSRGRKLVG GVNQDVEYSS ITDQQLTTEW QCQVQKITRS HSTDIPYIVS EAAVQAEHKE
  1501  QFADMQDEHH VAEAIPRIPR LSLTITDRNG MENLLSVKPD QTLGFPSLRS KSLHGHPRNV
  1561  KSIQGKLDRS GHASSVSSLV IVSGMTAEEK KVKKEKASTE TEC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRPM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRPM1.

Disease | AllUniProt

Conditions TRPM1 is implicated in, by any mechanism.

• Night blindness, congenital stationary, 1C (CSNB1C) MIM:613216

Disease | GeneticClinVar

115 pathogenic / likely-pathogenic of 1,431 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital stationary night blindness 1C
• Congenital stationary night blindness
• Retinal dystrophy
• TRPM1-related disorder
• Retinal disorder

Disease | AutoantibodyPubMed

Conditions in which antibodies against TRPM1 are reported. Each links to that disease's full target list.

• Melanoma 7

Showing 1 of 3 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for TRPM1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.07

gnomAD pLI

0

gnomAD missense Z

-0.13

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• calcium ion import across plasma membrane
• calcium ion transmembrane transport
• calcium ion transport
• cellular response to light stimulus
• G protein-coupled glutamate receptor signaling pathway
• monoatomic cation transmembrane transport
• protein tetramerization
• visual perception

Molecular functions

• calcium channel activity
• monoatomic cation transmembrane transporter activity

Cellular components

• axon
• endoplasmic reticulum
• endoplasmic reticulum membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Ion transport domain
• TRPM, tetramerisation domain
• TRPM, tetramerisation domain superfamily
• TRPM, SLOG domain
• Transient receptor potential cation channel M
• TRPM-like domain
• Ion transport protein
• Tetramerisation domain of TRPM
• SLOG in TRPM
• TRPM2-like domain

KeywordsUniProt

• Cell membrane
• Cell projection
• Coiled coil
• Congenital stationary night blindness
• Endoplasmic reticulum
• Glycoprotein
• Ion channel
• Ion transport
• Ligand-gated ion channel
• Membrane
• Receptor
• Sensory transduction
• Transmembrane
• Transmembrane helix
• Transport
• Vision

InteractionsUniProt · HPA

Protein binding partners of TRPM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GPR179
• GRM6
• NYX
• TRPM3