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Q7Z4N2

- TRPM1_HUMAN

UniProt

Q7Z4N2 - TRPM1_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

MaxQBiQ7Z4N2.
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

BgeeiQ7Z4N2.
CleanExiHS_TRPM1.
ExpressionAtlasiQ7Z4N2. baseline and differential.
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.
GeneTreeiENSGT00760000119127.
HOGENOMiHOG000230920.
HOVERGENiHBG055663.
InParanoidiQ7Z4N2.
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

        10         20         30         40         50
MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS
60 70 80 90 100
YPTDSYGVLE FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL
110 120 130 140 150
ISVHGGLQNF EMQPKLKQVF GKGLIKAAMT TGAWIFTGGV STGVISHVGD
160 170 180 190 200
ALKDHSSKSR GRVCAIGIAP WGIVENKEDL VGKDVTRVYQ TMSNPLSKLS
210 220 230 240 250
VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN TRLGQGVPLV
260 270 280 290 300
GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG
310 320 330 340 350
IINESLREQL LVTIQKTFNY NKAQSHQLFA IIMECMKKKE LVTVFRMGSE
360 370 380 390 400
GQQDIEMAIL TALLKGTNVS APDQLSLALA WNRVDIARSQ IFVFGPHWPP
410 420 430 440 450
LGSLAPPTDS KATEKEKKPP MATTKGGRGK GKGKKKGKVK EEVEEETDPR
460 470 480 490 500
KIELLNWVNA LEQAMLDALV LDRVDFVKLL IENGVNMQHF LTIPRLEELY
510 520 530 540 550
NTRLGPPNTL HLLVRDVKKS NLPPDYHISL IDIGLVLEYL MGGAYRCNYT
560 570 580 590 600
RKNFRTLYNN LFGPKRPKAL KLLGMEDDEP PAKGKKKKKK KKEEEIDIDV
610 620 630 640 650
DDPAVSRFQY PFHELMVWAV LMKRQKMAVF LWQRGEESMA KALVACKLYK
660 670 680 690 700
AMAHESSESD LVDDISQDLD NNSKDFGQLA LELLDQSYKH DEQIAMKLLT
710 720 730 740 750
YELKNWSNST CLKLAVAAKH RDFIAHTCSQ MLLTDMWMGR LRMRKNPGLK
760 770 780 790 800
VIMGILLPPT ILFLEFRTYD DFSYQTSKEN EDGKEKEEEN TDANADAGSR
810 820 830 840 850
KGDEENEHKK QRSIPIGTKI CEFYNAPIVK FWFYTISYLG YLLLFNYVIL
860 870 880 890 900
VRMDGWPSLQ EWIVISYIVS LALEKIREIL MSEPGKLSQK IKVWLQEYWN
910 920 930 940 950
ITDLVAISTF MIGAILRLQN QPYMGYGRVI YCVDIIFWYI RVLDIFGVNK
960 970 980 990 1000
YLGPYVMMIG KMMIDMLYFV VIMLVVLMSF GVARQAILHP EEKPSWKLAR
1010 1020 1030 1040 1050
NIFYMPYWMI YGEVFADQID LYAMEINPPC GENLYDEEGK RLPPCIPGAW
1060 1070 1080 1090 1100
LTPALMACYL LVANILLVNL LIAVFNNTFF EVKSISNQVW KFQRYQLIMT
1110 1120 1130 1140 1150
FHDRPVLPPP MIILSHIYII IMRLSGRCRK KREGDQEERD RGLKLFLSDE
1160 1170 1180 1190 1200
ELKRLHEFEE QCVQEHFREK EDEQQSSSDE RIRVTSERVE NMSMRLEEIN
1210 1220 1230 1240 1250
ERETFMKTSL QTVDLRLAQL EELSNRMVNA LENLAGIDRS DLIQARSRAS
1260 1270 1280 1290 1300
SECEATYLLR QSSINSADGY SLYRYHFNGE ELLFEDTSLS TSPGTGVRKK
1310 1320 1330 1340 1350
TCSFRIKEEK DVKTHLVPEC QNSLHLSLGT STSATPDGSH LAVDDLKNAE
1360 1370 1380 1390 1400
ESKLGPDIGI SKEDDERQTD SKKEETISPS LNKTDVIHGQ DKSDVQNTQL
1410 1420 1430 1440 1450
TVETTNIEGT ISYPLEETKI TRYFPDETIN ACKTMKSRSF VYSRGRKLVG
1460 1470 1480 1490 1500
GVNQDVEYSS ITDQQLTTEW QCQVQKITRS HSTDIPYIVS EAAVQAEHKE
1510 1520 1530 1540 1550
QFADMQDEHH VAEAIPRIPR LSLTITDRNG MENLLSVKPD QTLGFPSLRS
1560 1570 1580 1590 1600
KSLHGHPRNV KSIQGKLDRS GHASSVSSLV IVSGMTAEEK KVKKEKASTE

TEC

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]
ENST00000559179; ENSP00000453851; ENSG00000134160. [Q7Z4N2-7]
ENST00000560658; ENSP00000454077; ENSG00000134160. [Q7Z4N2-4]
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

MaxQBi Q7Z4N2.
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 ]
ENST00000559179 ; ENSP00000453851 ; ENSG00000134160 . [Q7Z4N2-7 ]
ENST00000560658 ; ENSP00000454077 ; ENSG00000134160 . [Q7Z4N2-4 ]
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.
GeneTreei ENSGT00760000119127.
HOGENOMi HOG000230920.
HOVERGENi HBG055663.
InParanoidi Q7Z4N2.
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

Bgeei Q7Z4N2.
CleanExi HS_TRPM1.
ExpressionAtlasi Q7Z4N2. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 93 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

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