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Q7Z4N2

- TRPM1_HUMAN

UniProt

Q7Z4N2 - TRPM1_HUMAN

Protein

Transient receptor potential cation channel subfamily M member 1

Gene

TRPM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 2 (08 Apr 2008)
      Previous versions | rss
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    Functioni

    Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression By similarity. May act as a spontaneously active, calcium-permeable plasma membrane channel.By similarity3 Publications

    GO - Molecular functioni

    1. calcium channel activity Source: UniProtKB

    GO - Biological processi

    1. calcium ion transmembrane transport Source: Reactome
    2. calcium ion transport into cytosol Source: UniProtKB
    3. cellular response to light stimulus Source: UniProtKB
    4. G-protein coupled glutamate receptor signaling pathway Source: UniProtKB
    5. ion transmembrane transport Source: Reactome
    6. retinal rod cell development Source: Ensembl
    7. transmembrane transport Source: Reactome
    8. transport Source: ProtInc
    9. visual perception Source: UniProtKB

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Ion transport, Sensory transduction, Transport, Vision

    Enzyme and pathway databases

    ReactomeiREACT_169333. TRP channels.

    Protein family/group databases

    TCDBi1.A.4.5.2. the transient receptor potential ca(2+) channel (trp-cc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transient receptor potential cation channel subfamily M member 1
    Alternative name(s):
    Long transient receptor potential channel 1
    Short name:
    LTrpC1
    Melastatin-1
    Gene namesi
    Name:TRPM1Imported
    Synonyms:LTRPC1, MLSN1 Publication, MLSN1Imported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:7146. TRPM1.

    Subcellular locationi

    Cell membrane Sequence Analysis; Multi-pass membrane protein 1 PublicationSequence Analysis

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. new growing cell tip Source: Ensembl
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561Y → C in CSNB1C. 1 Publication
    VAR_063174
    Natural varianti72 – 721Y → C in CSNB1C. 1 Publication
    VAR_063175
    Natural varianti74 – 741R → C in CSNB1C. 2 Publications
    VAR_063176
    Natural varianti99 – 991L → P in CSNB1C. 2 Publications
    Corresponds to variant rs191205969 [ dbSNP | Ensembl ].
    VAR_063177
    Natural varianti364 – 3641L → R in CSNB1C. 1 Publication
    VAR_063178
    Natural varianti473 – 4731R → P in CSNB1C. 1 Publication
    VAR_063180
    Natural varianti534 – 5341G → R in CSNB1C. 1 Publication
    VAR_063181
    Natural varianti541 – 5411M → K in CSNB1C. 1 Publication
    VAR_063182
    Natural varianti611 – 6111P → H in CSNB1C. 1 Publication
    VAR_063183
    Natural varianti721 – 7211R → Q in CSNB1C. 1 Publication
    VAR_063184
    Natural varianti883 – 8831E → G in CSNB1C. 1 Publication
    VAR_063185
    Natural varianti1002 – 10021I → F in CSNB1C. 1 Publication
    VAR_063187

    Keywords - Diseasei

    Congenital stationary night blindness, Disease mutation

    Organism-specific databases

    MIMi613216. phenotype.
    Orphaneti215. Congenital stationary night blindness.
    PharmGKBiPA35496.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 16031603Transient receptor potential cation channel subfamily M member 1PRO_0000328930Add
    BLAST

    Proteomic databases

    PaxDbiQ7Z4N2.
    PRIDEiQ7Z4N2.

    PTM databases

    PhosphoSiteiQ7Z4N2.

    Expressioni

    Tissue specificityi

    Expressed in the retina where it localizes to the outer plexiform layer. Highly expressed in benign melanocytic nevi and diffusely expressed in various in situ melanomas, but not detected in melanoma metastases. Also expressed in melanocytes and pigmented metastatic melanoma cell lines. In melanocytes expression appears to be regulated at the level of transcription and mRNA processing.3 Publications

    Inductioni

    Up-regulated by hexamethylene bisacetamide (HBMA).1 Publication

    Gene expression databases

    ArrayExpressiQ7Z4N2.
    BgeeiQ7Z4N2.
    CleanExiHS_TRPM1.
    GenevestigatoriQ7Z4N2.

    Organism-specific databases

    HPAiHPA014785.

    Interactioni

    Protein-protein interaction databases

    BioGridi110453. 1 interaction.
    IntActiQ7Z4N2. 1 interaction.
    STRINGi9606.ENSP00000380897.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z4N2.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 524524ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini546 – 745200CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini767 – 83064ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini852 – 8521CytoplasmicSequence Analysis
    Topological domaini874 – 89724ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini919 – 92810CytoplasmicSequence Analysis
    Topological domaini950 – 96112ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini983 – 105472CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1076 – 110530ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1127 – 1603477CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei525 – 54521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei746 – 76621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei831 – 85121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei853 – 87321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei898 – 91821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei929 – 94921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei962 – 98221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1055 – 107521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1106 – 112621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili1179 – 124062Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG253824.
    HOGENOMiHOG000230920.
    HOVERGENiHBG055663.
    KOiK04976.
    OMAiTMKSRSF.
    OrthoDBiEOG7NPFSC.
    PhylomeDBiQ7Z4N2.
    TreeFamiTF314204.

    Family and domain databases

    InterProiIPR005821. Ion_trans_dom.
    IPR029588. TRPM1.
    [Graphical view]
    PANTHERiPTHR13800:SF13. PTHR13800:SF13. 1 hit.
    PfamiPF00520. Ion_trans. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q7Z4N2-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS     50
    YPTDSYGVLE FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL 100
    ISVHGGLQNF EMQPKLKQVF GKGLIKAAMT TGAWIFTGGV STGVISHVGD 150
    ALKDHSSKSR GRVCAIGIAP WGIVENKEDL VGKDVTRVYQ TMSNPLSKLS 200
    VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN TRLGQGVPLV 250
    GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG 300
    IINESLREQL LVTIQKTFNY NKAQSHQLFA IIMECMKKKE LVTVFRMGSE 350
    GQQDIEMAIL TALLKGTNVS APDQLSLALA WNRVDIARSQ IFVFGPHWPP 400
    LGSLAPPTDS KATEKEKKPP MATTKGGRGK GKGKKKGKVK EEVEEETDPR 450
    KIELLNWVNA LEQAMLDALV LDRVDFVKLL IENGVNMQHF LTIPRLEELY 500
    NTRLGPPNTL HLLVRDVKKS NLPPDYHISL IDIGLVLEYL MGGAYRCNYT 550
    RKNFRTLYNN LFGPKRPKAL KLLGMEDDEP PAKGKKKKKK KKEEEIDIDV 600
    DDPAVSRFQY PFHELMVWAV LMKRQKMAVF LWQRGEESMA KALVACKLYK 650
    AMAHESSESD LVDDISQDLD NNSKDFGQLA LELLDQSYKH DEQIAMKLLT 700
    YELKNWSNST CLKLAVAAKH RDFIAHTCSQ MLLTDMWMGR LRMRKNPGLK 750
    VIMGILLPPT ILFLEFRTYD DFSYQTSKEN EDGKEKEEEN TDANADAGSR 800
    KGDEENEHKK QRSIPIGTKI CEFYNAPIVK FWFYTISYLG YLLLFNYVIL 850
    VRMDGWPSLQ EWIVISYIVS LALEKIREIL MSEPGKLSQK IKVWLQEYWN 900
    ITDLVAISTF MIGAILRLQN QPYMGYGRVI YCVDIIFWYI RVLDIFGVNK 950
    YLGPYVMMIG KMMIDMLYFV VIMLVVLMSF GVARQAILHP EEKPSWKLAR 1000
    NIFYMPYWMI YGEVFADQID LYAMEINPPC GENLYDEEGK RLPPCIPGAW 1050
    LTPALMACYL LVANILLVNL LIAVFNNTFF EVKSISNQVW KFQRYQLIMT 1100
    FHDRPVLPPP MIILSHIYII IMRLSGRCRK KREGDQEERD RGLKLFLSDE 1150
    ELKRLHEFEE QCVQEHFREK EDEQQSSSDE RIRVTSERVE NMSMRLEEIN 1200
    ERETFMKTSL QTVDLRLAQL EELSNRMVNA LENLAGIDRS DLIQARSRAS 1250
    SECEATYLLR QSSINSADGY SLYRYHFNGE ELLFEDTSLS TSPGTGVRKK 1300
    TCSFRIKEEK DVKTHLVPEC QNSLHLSLGT STSATPDGSH LAVDDLKNAE 1350
    ESKLGPDIGI SKEDDERQTD SKKEETISPS LNKTDVIHGQ DKSDVQNTQL 1400
    TVETTNIEGT ISYPLEETKI TRYFPDETIN ACKTMKSRSF VYSRGRKLVG 1450
    GVNQDVEYSS ITDQQLTTEW QCQVQKITRS HSTDIPYIVS EAAVQAEHKE 1500
    QFADMQDEHH VAEAIPRIPR LSLTITDRNG MENLLSVKPD QTLGFPSLRS 1550
    KSLHGHPRNV KSIQGKLDRS GHASSVSSLV IVSGMTAEEK KVKKEKASTE 1600
    TEC 1603

    Note: No experimental confirmation available.Curated

    Length:1,603
    Mass (Da):182,178
    Last modified:April 8, 2008 - v2
    Checksum:i8B9658FAE3F7B32F
    GO
    Isoform 22 Publications (identifier: Q7Z4N2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-70: Missing.

    Show »
    Length:1,533
    Mass (Da):174,418
    Checksum:iD824DC467BC1A70F
    GO
    Isoform 31 Publication (identifier: Q7Z4N2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         295-300: Missing.

    Show »
    Length:1,597
    Mass (Da):181,540
    Checksum:i44A93B1C9CF533C7
    GO
    Isoform 41 Publication (identifier: Q7Z4N2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         301-1603: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:300
    Mass (Da):32,814
    Checksum:iEA1EE23D05248823
    GO
    Isoform 5 (identifier: Q7Z4N2-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MSSFKRGSLKSSTSGSQKGQKSWIEKTFCKRECIFVIPSM

    Show »
    Length:1,642
    Mass (Da):186,545
    Checksum:i8FCF58496AF8504D
    GO
    Isoform 6 (identifier: Q7Z4N2-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MGQKSWIEKTFCKRECIFVIPSM

    Show »
    Length:1,625
    Mass (Da):184,792
    Checksum:i242329CE4A78C0F6
    GO
    Isoform 7 (identifier: Q7Z4N2-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         72-136: YIRVSYDTKP...AAMTTGAWIF → VRKAFRHGAT...AMRLGNWTPL
         137-1603: Missing.

    Show »
    Length:136
    Mass (Da):15,099
    Checksum:iEAA6CA0DA32B87D7
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1 – 11M → T in ADJ52077. (PubMed:19436059)Curated
    Sequence conflicti369 – 3691V → L in BAC80200. 1 PublicationCurated
    Sequence conflicti1195 – 11951R → G in BAC80201. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61R → W.2 Publications
    VAR_063173
    Natural varianti32 – 321S → N.3 Publications
    Corresponds to variant rs2241493 [ dbSNP | Ensembl ].
    VAR_052370
    Natural varianti56 – 561Y → C in CSNB1C. 1 Publication
    VAR_063174
    Natural varianti72 – 721Y → C in CSNB1C. 1 Publication
    VAR_063175
    Natural varianti74 – 741R → C in CSNB1C. 2 Publications
    VAR_063176
    Natural varianti99 – 991L → P in CSNB1C. 2 Publications
    Corresponds to variant rs191205969 [ dbSNP | Ensembl ].
    VAR_063177
    Natural varianti364 – 3641L → R in CSNB1C. 1 Publication
    VAR_063178
    Natural varianti399 – 3991P → T.2 Publications
    Corresponds to variant rs141540242 [ dbSNP | Ensembl ].
    VAR_063179
    Natural varianti473 – 4731R → P in CSNB1C. 1 Publication
    VAR_063180
    Natural varianti534 – 5341G → R in CSNB1C. 1 Publication
    VAR_063181
    Natural varianti541 – 5411M → K in CSNB1C. 1 Publication
    VAR_063182
    Natural varianti605 – 6051V → M.2 Publications
    Corresponds to variant rs17815774 [ dbSNP | Ensembl ].
    VAR_052371
    Natural varianti611 – 6111P → H in CSNB1C. 1 Publication
    VAR_063183
    Natural varianti721 – 7211R → Q in CSNB1C. 1 Publication
    VAR_063184
    Natural varianti883 – 8831E → G in CSNB1C. 1 Publication
    VAR_063185
    Natural varianti962 – 9621M → T in a patient with night blindness started in the third decade; associated in cis with G-1438. 1 Publication
    VAR_063186
    Natural varianti1002 – 10021I → F in CSNB1C. 1 Publication
    VAR_063187
    Natural varianti1161 – 11611Q → H.1 Publication
    Corresponds to variant rs182549235 [ dbSNP | Ensembl ].
    VAR_063188
    Natural varianti1229 – 12291N → T.1 Publication
    Corresponds to variant rs17227996 [ dbSNP | Ensembl ].
    VAR_052372
    Natural varianti1305 – 13051R → H.
    Corresponds to variant rs13380059 [ dbSNP | Ensembl ].
    VAR_052373
    Natural varianti1379 – 13791P → T.1 Publication
    Corresponds to variant rs61734298 [ dbSNP | Ensembl ].
    VAR_063189
    Natural varianti1395 – 13951V → I.2 Publications
    Corresponds to variant rs3784588 [ dbSNP | Ensembl ].
    VAR_052374
    Natural varianti1422 – 14221R → G.
    Corresponds to variant rs3784587 [ dbSNP | Ensembl ].
    VAR_052375
    Natural varianti1422 – 14221R → W.1 Publication
    VAR_063190
    Natural varianti1438 – 14381R → G in a patient with night blindness started in the third decade; associated in cis with T-962. 1 Publication
    VAR_063191
    Natural varianti1498 – 14981H → Q.2 Publications
    Corresponds to variant rs12898290 [ dbSNP | Ensembl ].
    VAR_052376

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7070Missing in isoform 2. 2 PublicationsVSP_052748Add
    BLAST
    Alternative sequencei1 – 11M → MSSFKRGSLKSSTSGSQKGQ KSWIEKTFCKRECIFVIPSM in isoform 5. 1 PublicationVSP_046786
    Alternative sequencei1 – 11M → MGQKSWIEKTFCKRECIFVI PSM in isoform 6. 1 PublicationVSP_046787
    Alternative sequencei72 – 13665YIRVS…GAWIF → VRKAFRHGATRITAFIGGQS PSPKLQIPGLLHGCGSIFLD ISLKNQEIYLCTWLLAMRLG NWTPL in isoform 7. 1 PublicationVSP_046788Add
    BLAST
    Alternative sequencei137 – 16031467Missing in isoform 7. 1 PublicationVSP_046789Add
    BLAST
    Alternative sequencei295 – 3006Missing in isoform 3. 1 PublicationVSP_052749
    Alternative sequencei301 – 16031303Missing in isoform 4. 1 PublicationVSP_052750Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF071787 mRNA. Translation: AAC80000.1.
    HM135790 mRNA. Translation: ADJ52077.1.
    HM135791 mRNA. Translation: ADJ52078.1.
    AB115498 mRNA. Translation: BAC80200.1.
    AB115499 mRNA. Translation: BAC80201.1.
    AB115500 mRNA. Translation: BAC80202.1.
    AB115501 mRNA. Translation: BAC80203.1.
    AB115502 mRNA. Translation: BAC80204.1.
    AC009562 Genomic DNA. No translation available.
    AC090829 Genomic DNA. No translation available.
    CH471216 Genomic DNA. Translation: EAW61261.1.
    BC058286 mRNA. Translation: AAH58286.1.
    CCDSiCCDS10024.2. [Q7Z4N2-1]
    CCDS58345.1. [Q7Z4N2-7]
    CCDS58346.1. [Q7Z4N2-6]
    CCDS58347.1. [Q7Z4N2-5]
    RefSeqiNP_001238949.1. NM_001252020.1. [Q7Z4N2-5]
    NP_001238953.1. NM_001252024.1. [Q7Z4N2-6]
    NP_001238959.1. NM_001252030.1. [Q7Z4N2-7]
    NP_002411.3. NM_002420.5. [Q7Z4N2-1]
    UniGeneiHs.155942.
    Hs.732541.

    Genome annotation databases

    EnsembliENST00000256552; ENSP00000256552; ENSG00000134160. [Q7Z4N2-6]
    ENST00000397795; ENSP00000380897; ENSG00000134160. [Q7Z4N2-1]
    ENST00000542188; ENSP00000437849; ENSG00000134160. [Q7Z4N2-5]
    ENST00000558768; ENSP00000453119; ENSG00000134160.
    ENST00000559179; ENSP00000453851; ENSG00000134160. [Q7Z4N2-7]
    ENST00000560658; ENSP00000454077; ENSG00000134160. [Q7Z4N2-4]
    ENST00000560801; ENSP00000453644; ENSG00000134160.
    GeneIDi4308.
    KEGGihsa:4308.
    UCSCiuc001zfm.3. human. [Q7Z4N2-1]
    uc010azy.3. human. [Q7Z4N2-3]

    Polymorphism databases

    DMDMi182701419.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF071787 mRNA. Translation: AAC80000.1 .
    HM135790 mRNA. Translation: ADJ52077.1 .
    HM135791 mRNA. Translation: ADJ52078.1 .
    AB115498 mRNA. Translation: BAC80200.1 .
    AB115499 mRNA. Translation: BAC80201.1 .
    AB115500 mRNA. Translation: BAC80202.1 .
    AB115501 mRNA. Translation: BAC80203.1 .
    AB115502 mRNA. Translation: BAC80204.1 .
    AC009562 Genomic DNA. No translation available.
    AC090829 Genomic DNA. No translation available.
    CH471216 Genomic DNA. Translation: EAW61261.1 .
    BC058286 mRNA. Translation: AAH58286.1 .
    CCDSi CCDS10024.2. [Q7Z4N2-1 ]
    CCDS58345.1. [Q7Z4N2-7 ]
    CCDS58346.1. [Q7Z4N2-6 ]
    CCDS58347.1. [Q7Z4N2-5 ]
    RefSeqi NP_001238949.1. NM_001252020.1. [Q7Z4N2-5 ]
    NP_001238953.1. NM_001252024.1. [Q7Z4N2-6 ]
    NP_001238959.1. NM_001252030.1. [Q7Z4N2-7 ]
    NP_002411.3. NM_002420.5. [Q7Z4N2-1 ]
    UniGenei Hs.155942.
    Hs.732541.

    3D structure databases

    ProteinModelPortali Q7Z4N2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110453. 1 interaction.
    IntActi Q7Z4N2. 1 interaction.
    STRINGi 9606.ENSP00000380897.

    Chemistry

    GuidetoPHARMACOLOGYi 493.

    Protein family/group databases

    TCDBi 1.A.4.5.2. the transient receptor potential ca(2+) channel (trp-cc) family.

    PTM databases

    PhosphoSitei Q7Z4N2.

    Polymorphism databases

    DMDMi 182701419.

    Proteomic databases

    PaxDbi Q7Z4N2.
    PRIDEi Q7Z4N2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000256552 ; ENSP00000256552 ; ENSG00000134160 . [Q7Z4N2-6 ]
    ENST00000397795 ; ENSP00000380897 ; ENSG00000134160 . [Q7Z4N2-1 ]
    ENST00000542188 ; ENSP00000437849 ; ENSG00000134160 . [Q7Z4N2-5 ]
    ENST00000558768 ; ENSP00000453119 ; ENSG00000134160 .
    ENST00000559179 ; ENSP00000453851 ; ENSG00000134160 . [Q7Z4N2-7 ]
    ENST00000560658 ; ENSP00000454077 ; ENSG00000134160 . [Q7Z4N2-4 ]
    ENST00000560801 ; ENSP00000453644 ; ENSG00000134160 .
    GeneIDi 4308.
    KEGGi hsa:4308.
    UCSCi uc001zfm.3. human. [Q7Z4N2-1 ]
    uc010azy.3. human. [Q7Z4N2-3 ]

    Organism-specific databases

    CTDi 4308.
    GeneCardsi GC15M031293.
    HGNCi HGNC:7146. TRPM1.
    HPAi HPA014785.
    MIMi 603576. gene.
    613216. phenotype.
    neXtProti NX_Q7Z4N2.
    Orphaneti 215. Congenital stationary night blindness.
    PharmGKBi PA35496.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG253824.
    HOGENOMi HOG000230920.
    HOVERGENi HBG055663.
    KOi K04976.
    OMAi TMKSRSF.
    OrthoDBi EOG7NPFSC.
    PhylomeDBi Q7Z4N2.
    TreeFami TF314204.

    Enzyme and pathway databases

    Reactomei REACT_169333. TRP channels.

    Miscellaneous databases

    GeneWikii TRPM1.
    GenomeRNAii 4308.
    NextBioi 16953.
    PROi Q7Z4N2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z4N2.
    Bgeei Q7Z4N2.
    CleanExi HS_TRPM1.
    Genevestigatori Q7Z4N2.

    Family and domain databases

    InterProi IPR005821. Ion_trans_dom.
    IPR029588. TRPM1.
    [Graphical view ]
    PANTHERi PTHR13800:SF13. PTHR13800:SF13. 1 hit.
    Pfami PF00520. Ion_trans. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)."
      Hunter J.J., Shao J., Smutko J.S., Dussault B.J., Nagle D.L., Woolf E.A., Holmgren L.M., Moore K.J., Shyjan A.W.
      Genomics 54:116-123(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS THR-399 AND GLN-1498.
      Tissue: RetinaImported.
    2. "TRPM1 forms ion channels associated with melanin content in melanocytes."
      Oancea E., Vriens J., Brauchi S., Jun J., Splawski I., Clapham D.E.
      Sci. Signal. 2:RA21-RA21(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6).
    3. "ProX human full-length cDNA cloning project."
      Sano M., Okabayashi K., Miyauchi A., Gonoi T.
      Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
      Tissue: MelanomaImported.
    4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7), VARIANT ASN-32.
    7. "Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis."
      Duncan L.M., Deeds J., Hunter J., Shao J., Holmgren L.M., Woolf E.A., Tepper R.I., Shyjan A.W.
      Cancer Res. 58:1515-1520(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. "Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells."
      Fang D., Setaluri V.
      Biochem. Biophys. Res. Commun. 279:53-61(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, INDUCTION.
    9. "Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform."
      Xu X.-Z.S., Moebius F., Gill D.L., Montell C.
      Proc. Natl. Acad. Sci. U.S.A. 98:10692-10697(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    10. "Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans."
      Li Z., Sergouniotis P.I., Michaelides M., Mackay D.S., Wright G.A., Devery S., Moore A.T., Holder G.E., Robson A.G., Webster A.R.
      Am. J. Hum. Genet. 85:711-719(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, VARIANTS CSNB1C CYS-56; CYS-74; GLN-721; GLY-883 AND PHE-1002, VARIANTS TRP-6; ASN-32; MET-605; THR-962; ILE-1395 AND GLY-1438.
    11. Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CSNB1C CYS-74; PRO-99; ARG-364; ARG-534 AND HIS-611.
    12. Cited for: VARIANTS CSNB1C CYS-72; PRO-99; PRO-473 AND LYS-541, VARIANTS TRP-6; ASN-32; THR-399; MET-605; HIS-1161; THR-1229; THR-1379; ILE-1395; TRP-1422 AND GLN-1498.

    Entry informationi

    Entry nameiTRPM1_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z4N2
    Secondary accession number(s): D9IDV2
    , D9IDV3, F8W865, H0YN37, O75560, Q6PE48, Q7Z4N1, Q7Z4N3, Q7Z4N4, Q7Z4N5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 8, 2008
    Last sequence update: April 8, 2008
    Last modified: October 1, 2014
    This is version 92 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3