Q7Z4N2 (TRPM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	TRPM1
Synonyms:	LTRPC1, MLSN, MLSN1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1603 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.7 Ref.8 Ref.9
Subcellular location	Cell membrane; Multi-pass membrane protein Potential Ref.7.
Tissue specificity	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. Ref.5 Ref.6 Ref.9
Induction	Up-regulated by hexamethylene bisacetamide (HBMA). Ref.6
Involvement in disease	Congenital stationary night blindness 1C (CSNB1C) [MIM:613216]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9 Ref.10
Sequence similarities	Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Sensory transduction Transport Vision
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Congenital stationary night blindness Disease mutation
Domain	Coiled coil Transmembrane Transmembrane helix
Molecular function	Ion channel Ligand-gated ion channel Receptor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular response to light stimulus Inferred from mutant phenotype Ref.9. Source: UniProtKB retinal rod cell development Inferred from electronic annotation. Source: Compara signal transduction Inferred from electronic annotation. Source: Compara visual perception Inferred from mutant phenotype Ref.8. Source: UniProtKB
Cellular_component	integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc new growing cell tip Inferred from electronic annotation. Source: Compara
Molecular_function	calcium channel activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 Ref.3 (identifier: Q7Z4N2-1)

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.

Note: No experimental confirmation available.

Isoform 2 Ref.1 Ref.2 Ref.4 (identifier: Q7Z4N2-2)

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

Isoform 3 Ref.2 (identifier: Q7Z4N2-3)

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

Isoform 4 Ref.2 (identifier: Q7Z4N2-4)

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1603	1603	Transient receptor potential cation channel subfamily M member 1		PRO_0000328930
Regions
	Topological domain	1 – 524	524	Extracellular Potential
	Transmembrane	525 – 545	21	Helical; Potential
	Topological domain	546 – 745	200	Cytoplasmic Potential
	Transmembrane	746 – 766	21	Helical; Potential
	Topological domain	767 – 830	64	Extracellular Potential
	Transmembrane	831 – 851	21	Helical; Potential
	Topological domain	852	1	Cytoplasmic Potential
	Transmembrane	853 – 873	21	Helical; Potential
	Topological domain	874 – 897	24	Extracellular Potential
	Transmembrane	898 – 918	21	Helical; Potential
	Topological domain	919 – 928	10	Cytoplasmic Potential
	Transmembrane	929 – 949	21	Helical; Potential
	Topological domain	950 – 961	12	Extracellular Potential
	Transmembrane	962 – 982	21	Helical; Potential
	Topological domain	983 – 1054	72	Cytoplasmic Potential
	Transmembrane	1055 – 1075	21	Helical; Potential
	Topological domain	1076 – 1105	30	Extracellular Potential
	Transmembrane	1106 – 1126	21	Helical; Potential
	Topological domain	1127 – 1603	477	Cytoplasmic Potential
	Coiled coil	1179 – 1240	62	Potential
Natural variations
	Alternative sequence	1 – 70	70	Missing in isoform 2. Ref.1 Ref.2 Ref.4		VSP_052748
	Alternative sequence	295 – 300	6	Missing in isoform 3. Ref.2		VSP_052749
	Alternative sequence	301 – 1603	1303	Missing in isoform 4. Ref.2		VSP_052750
	Natural variant	6	1	R → W. Ref.8 Ref.10		VAR_063173
	Natural variant	32	1	S → N. Ref.8 Ref.10 Corresponds to variant rs2241493 [ dbSNP | Ensembl ].		VAR_052370
	Natural variant	56	1	Y → C in CSNB1C. Ref.8		VAR_063174
	Natural variant	72	1	Y → C in CSNB1C. Ref.10		VAR_063175
	Natural variant	74	1	R → C in CSNB1C. Ref.8 Ref.9		VAR_063176
	Natural variant	99	1	L → P in CSNB1C. Ref.9 Ref.10		VAR_063177
	Natural variant	364	1	L → R in CSNB1C. Ref.9		VAR_063178
	Natural variant	399	1	P → T. Ref.1 Ref.10		VAR_063179
	Natural variant	473	1	R → P in CSNB1C. Ref.10		VAR_063180
	Natural variant	534	1	G → R in CSNB1C. Ref.9		VAR_063181
	Natural variant	541	1	M → K in CSNB1C. Ref.10		VAR_063182
	Natural variant	605	1	V → M. Ref.8 Ref.10 Corresponds to variant rs17815774 [ dbSNP | Ensembl ].		VAR_052371
	Natural variant	611	1	P → H in CSNB1C. Ref.9		VAR_063183
	Natural variant	721	1	R → Q in CSNB1C. Ref.8		VAR_063184
	Natural variant	883	1	E → G in CSNB1C. Ref.8		VAR_063185
	Natural variant	962	1	M → T in a patient with night blindness started in the third decade; associated in cis with G-1438. Ref.8		VAR_063186
	Natural variant	1002	1	I → F in CSNB1C. Ref.8		VAR_063187
	Natural variant	1161	1	Q → H. Ref.10		VAR_063188
	Natural variant	1229	1	N → T. Ref.10 Corresponds to variant rs17227996 [ dbSNP | Ensembl ].		VAR_052372
	Natural variant	1305	1	R → H. Corresponds to variant rs13380059 [ dbSNP | Ensembl ].		VAR_052373
	Natural variant	1379	1	P → T. Ref.10		VAR_063189
	Natural variant	1395	1	V → I. Ref.8 Ref.10 Corresponds to variant rs3784588 [ dbSNP | Ensembl ].		VAR_052374
	Natural variant	1422	1	R → G. Corresponds to variant rs3784587 [ dbSNP | Ensembl ].		VAR_052375
	Natural variant	1422	1	R → W. Ref.10		VAR_063190
	Natural variant	1438	1	R → G in a patient with night blindness started in the third decade; associated in cis with T-962. Ref.8		VAR_063191
	Natural variant	1498	1	H → Q. Ref.1 Ref.10 Corresponds to variant rs12898290 [ dbSNP | Ensembl ].		VAR_052376
Experimental info
	Sequence conflict	369	1	V → L in BAC80200. Ref.2
	Sequence conflict	1195	1	R → G in BAC80201. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 2. Checksum: 8B9658FAE3F7B32F	FASTA	1,603	182,178
	10 20 30 40 50 60 MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS YPTDSYGVLE 70 80 90 100 110 120 FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL ISVHGGLQNF EMQPKLKQVF 130 140 150 160 170 180 GKGLIKAAMT TGAWIFTGGV STGVISHVGD ALKDHSSKSR GRVCAIGIAP WGIVENKEDL 190 200 210 220 230 240 VGKDVTRVYQ TMSNPLSKLS VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN 250 260 270 280 290 300 TRLGQGVPLV GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG 310 320 330 340 350 360 IINESLREQL LVTIQKTFNY NKAQSHQLFA IIMECMKKKE LVTVFRMGSE GQQDIEMAIL 370 380 390 400 410 420 TALLKGTNVS APDQLSLALA WNRVDIARSQ IFVFGPHWPP LGSLAPPTDS KATEKEKKPP 430 440 450 460 470 480 MATTKGGRGK GKGKKKGKVK EEVEEETDPR KIELLNWVNA LEQAMLDALV LDRVDFVKLL 490 500 510 520 530 540 IENGVNMQHF LTIPRLEELY NTRLGPPNTL HLLVRDVKKS NLPPDYHISL IDIGLVLEYL 550 560 570 580 590 600 MGGAYRCNYT RKNFRTLYNN LFGPKRPKAL KLLGMEDDEP PAKGKKKKKK KKEEEIDIDV 610 620 630 640 650 660 DDPAVSRFQY PFHELMVWAV LMKRQKMAVF LWQRGEESMA KALVACKLYK AMAHESSESD 670 680 690 700 710 720 LVDDISQDLD NNSKDFGQLA LELLDQSYKH DEQIAMKLLT YELKNWSNST CLKLAVAAKH 730 740 750 760 770 780 RDFIAHTCSQ MLLTDMWMGR LRMRKNPGLK VIMGILLPPT ILFLEFRTYD DFSYQTSKEN 790 800 810 820 830 840 EDGKEKEEEN TDANADAGSR KGDEENEHKK QRSIPIGTKI CEFYNAPIVK FWFYTISYLG 850 860 870 880 890 900 YLLLFNYVIL VRMDGWPSLQ EWIVISYIVS LALEKIREIL MSEPGKLSQK IKVWLQEYWN 910 920 930 940 950 960 ITDLVAISTF MIGAILRLQN QPYMGYGRVI YCVDIIFWYI RVLDIFGVNK YLGPYVMMIG 970 980 990 1000 1010 1020 KMMIDMLYFV VIMLVVLMSF GVARQAILHP EEKPSWKLAR NIFYMPYWMI YGEVFADQID 1030 1040 1050 1060 1070 1080 LYAMEINPPC GENLYDEEGK RLPPCIPGAW LTPALMACYL LVANILLVNL LIAVFNNTFF 1090 1100 1110 1120 1130 1140 EVKSISNQVW KFQRYQLIMT FHDRPVLPPP MIILSHIYII IMRLSGRCRK KREGDQEERD 1150 1160 1170 1180 1190 1200 RGLKLFLSDE ELKRLHEFEE QCVQEHFREK EDEQQSSSDE RIRVTSERVE NMSMRLEEIN 1210 1220 1230 1240 1250 1260 ERETFMKTSL QTVDLRLAQL EELSNRMVNA LENLAGIDRS DLIQARSRAS SECEATYLLR 1270 1280 1290 1300 1310 1320 QSSINSADGY SLYRYHFNGE ELLFEDTSLS TSPGTGVRKK TCSFRIKEEK DVKTHLVPEC 1330 1340 1350 1360 1370 1380 QNSLHLSLGT STSATPDGSH LAVDDLKNAE ESKLGPDIGI SKEDDERQTD SKKEETISPS 1390 1400 1410 1420 1430 1440 LNKTDVIHGQ DKSDVQNTQL TVETTNIEGT ISYPLEETKI TRYFPDETIN ACKTMKSRSF 1450 1460 1470 1480 1490 1500 VYSRGRKLVG GVNQDVEYSS ITDQQLTTEW QCQVQKITRS HSTDIPYIVS EAAVQAEHKE 1510 1520 1530 1540 1550 1560 QFADMQDEHH VAEAIPRIPR LSLTITDRNG MENLLSVKPD QTLGFPSLRS KSLHGHPRNV 1570 1580 1590 1600 KSIQGKLDRS GHASSVSSLV IVSGMTAEEK KVKKEKASTE TEC
	Isoform 2 [UniParc]. Checksum: D824DC467BC1A70F	FASTA	1,533	174,418
	10 20 30 40 50 60 MYIRVSYDTK PDSLLHLMVK DWQLELPKLL ISVHGGLQNF EMQPKLKQVF GKGLIKAAMT 70 80 90 100 110 120 TGAWIFTGGV STGVISHVGD ALKDHSSKSR GRVCAIGIAP WGIVENKEDL VGKDVTRVYQ 130 140 150 160 170 180 TMSNPLSKLS VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN TRLGQGVPLV 190 200 210 220 230 240 GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG IINESLREQL 250 260 270 280 290 300 LVTIQKTFNY NKAQSHQLFA IIMECMKKKE LVTVFRMGSE GQQDIEMAIL TALLKGTNVS 310 320 330 340 350 360 APDQLSLALA WNRVDIARSQ IFVFGPHWPP LGSLAPPTDS KATEKEKKPP MATTKGGRGK 370 380 390 400 410 420 GKGKKKGKVK EEVEEETDPR KIELLNWVNA LEQAMLDALV LDRVDFVKLL IENGVNMQHF 430 440 450 460 470 480 LTIPRLEELY NTRLGPPNTL HLLVRDVKKS NLPPDYHISL IDIGLVLEYL MGGAYRCNYT 490 500 510 520 530 540 RKNFRTLYNN LFGPKRPKAL KLLGMEDDEP PAKGKKKKKK KKEEEIDIDV DDPAVSRFQY 550 560 570 580 590 600 PFHELMVWAV LMKRQKMAVF LWQRGEESMA KALVACKLYK AMAHESSESD LVDDISQDLD 610 620 630 640 650 660 NNSKDFGQLA LELLDQSYKH DEQIAMKLLT YELKNWSNST CLKLAVAAKH RDFIAHTCSQ 670 680 690 700 710 720 MLLTDMWMGR LRMRKNPGLK VIMGILLPPT ILFLEFRTYD DFSYQTSKEN EDGKEKEEEN 730 740 750 760 770 780 TDANADAGSR KGDEENEHKK QRSIPIGTKI CEFYNAPIVK FWFYTISYLG YLLLFNYVIL 790 800 810 820 830 840 VRMDGWPSLQ EWIVISYIVS LALEKIREIL MSEPGKLSQK IKVWLQEYWN ITDLVAISTF 850 860 870 880 890 900 MIGAILRLQN QPYMGYGRVI YCVDIIFWYI RVLDIFGVNK YLGPYVMMIG KMMIDMLYFV 910 920 930 940 950 960 VIMLVVLMSF GVARQAILHP EEKPSWKLAR NIFYMPYWMI YGEVFADQID LYAMEINPPC 970 980 990 1000 1010 1020 GENLYDEEGK RLPPCIPGAW LTPALMACYL LVANILLVNL LIAVFNNTFF EVKSISNQVW 1030 1040 1050 1060 1070 1080 KFQRYQLIMT FHDRPVLPPP MIILSHIYII IMRLSGRCRK KREGDQEERD RGLKLFLSDE 1090 1100 1110 1120 1130 1140 ELKRLHEFEE QCVQEHFREK EDEQQSSSDE RIRVTSERVE NMSMRLEEIN ERETFMKTSL 1150 1160 1170 1180 1190 1200 QTVDLRLAQL EELSNRMVNA LENLAGIDRS DLIQARSRAS SECEATYLLR QSSINSADGY 1210 1220 1230 1240 1250 1260 SLYRYHFNGE ELLFEDTSLS TSPGTGVRKK TCSFRIKEEK DVKTHLVPEC QNSLHLSLGT 1270 1280 1290 1300 1310 1320 STSATPDGSH LAVDDLKNAE ESKLGPDIGI SKEDDERQTD SKKEETISPS LNKTDVIHGQ 1330 1340 1350 1360 1370 1380 DKSDVQNTQL TVETTNIEGT ISYPLEETKI TRYFPDETIN ACKTMKSRSF VYSRGRKLVG 1390 1400 1410 1420 1430 1440 GVNQDVEYSS ITDQQLTTEW QCQVQKITRS HSTDIPYIVS EAAVQAEHKE QFADMQDEHH 1450 1460 1470 1480 1490 1500 VAEAIPRIPR LSLTITDRNG MENLLSVKPD QTLGFPSLRS KSLHGHPRNV KSIQGKLDRS 1510 1520 1530 GHASSVSSLV IVSGMTAEEK KVKKEKASTE TEC
	Isoform 3 [UniParc]. Checksum: 44A93B1C9CF533C7	FASTA	1,597	181,540
	10 20 30 40 50 60 MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS YPTDSYGVLE 70 80 90 100 110 120 FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL ISVHGGLQNF EMQPKLKQVF 130 140 150 160 170 180 GKGLIKAAMT TGAWIFTGGV STGVISHVGD ALKDHSSKSR GRVCAIGIAP WGIVENKEDL 190 200 210 220 230 240 VGKDVTRVYQ TMSNPLSKLS VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN 250 260 270 280 290 300 TRLGQGVPLV GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKIINESL 310 320 330 340 350 360 REQLLVTIQK TFNYNKAQSH QLFAIIMECM KKKELVTVFR MGSEGQQDIE MAILTALLKG 370 380 390 400 410 420 TNVSAPDQLS LALAWNRVDI ARSQIFVFGP HWPPLGSLAP PTDSKATEKE KKPPMATTKG 430 440 450 460 470 480 GRGKGKGKKK GKVKEEVEEE TDPRKIELLN WVNALEQAML DALVLDRVDF VKLLIENGVN 490 500 510 520 530 540 MQHFLTIPRL EELYNTRLGP PNTLHLLVRD VKKSNLPPDY HISLIDIGLV LEYLMGGAYR 550 560 570 580 590 600 CNYTRKNFRT LYNNLFGPKR PKALKLLGME DDEPPAKGKK KKKKKKEEEI DIDVDDPAVS 610 620 630 640 650 660 RFQYPFHELM VWAVLMKRQK MAVFLWQRGE ESMAKALVAC KLYKAMAHES SESDLVDDIS 670 680 690 700 710 720 QDLDNNSKDF GQLALELLDQ SYKHDEQIAM KLLTYELKNW SNSTCLKLAV AAKHRDFIAH 730 740 750 760 770 780 TCSQMLLTDM WMGRLRMRKN PGLKVIMGIL LPPTILFLEF RTYDDFSYQT SKENEDGKEK 790 800 810 820 830 840 EEENTDANAD AGSRKGDEEN EHKKQRSIPI GTKICEFYNA PIVKFWFYTI SYLGYLLLFN 850 860 870 880 890 900 YVILVRMDGW PSLQEWIVIS YIVSLALEKI REILMSEPGK LSQKIKVWLQ EYWNITDLVA 910 920 930 940 950 960 ISTFMIGAIL RLQNQPYMGY GRVIYCVDII FWYIRVLDIF GVNKYLGPYV MMIGKMMIDM 970 980 990 1000 1010 1020 LYFVVIMLVV LMSFGVARQA ILHPEEKPSW KLARNIFYMP YWMIYGEVFA DQIDLYAMEI 1030 1040 1050 1060 1070 1080 NPPCGENLYD EEGKRLPPCI PGAWLTPALM ACYLLVANIL LVNLLIAVFN NTFFEVKSIS 1090 1100 1110 1120 1130 1140 NQVWKFQRYQ LIMTFHDRPV LPPPMIILSH IYIIIMRLSG RCRKKREGDQ EERDRGLKLF 1150 1160 1170 1180 1190 1200 LSDEELKRLH EFEEQCVQEH FREKEDEQQS SSDERIRVTS ERVENMSMRL EEINERETFM 1210 1220 1230 1240 1250 1260 KTSLQTVDLR LAQLEELSNR MVNALENLAG IDRSDLIQAR SRASSECEAT YLLRQSSINS 1270 1280 1290 1300 1310 1320 ADGYSLYRYH FNGEELLFED TSLSTSPGTG VRKKTCSFRI KEEKDVKTHL VPECQNSLHL 1330 1340 1350 1360 1370 1380 SLGTSTSATP DGSHLAVDDL KNAEESKLGP DIGISKEDDE RQTDSKKEET ISPSLNKTDV 1390 1400 1410 1420 1430 1440 IHGQDKSDVQ NTQLTVETTN IEGTISYPLE ETKITRYFPD ETINACKTMK SRSFVYSRGR 1450 1460 1470 1480 1490 1500 KLVGGVNQDV EYSSITDQQL TTEWQCQVQK ITRSHSTDIP YIVSEAAVQA EHKEQFADMQ 1510 1520 1530 1540 1550 1560 DEHHVAEAIP RIPRLSLTIT DRNGMENLLS VKPDQTLGFP SLRSKSLHGH PRNVKSIQGK 1570 1580 1590 LDRSGHASSV SSLVIVSGMT AEEKKVKKEK ASTETEC
	Isoform 4 [UniParc]. Checksum: EA1EE23D05248823	FASTA	300	32,814
	10 20 30 40 50 60 MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS YPTDSYGVLE 70 80 90 100 110 120 FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL ISVHGGLQNF EMQPKLKQVF 130 140 150 160 170 180 GKGLIKAAMT TGAWIFTGGV STGVISHVGD ALKDHSSKSR GRVCAIGIAP WGIVENKEDL 190 200 210 220 230 240 VGKDVTRVYQ TMSNPLSKLS VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN 250 260 270 280 290 300 TRLGQGVPLV GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: Retina.
[2]	"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: Melanoma.
[3]	"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].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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.
[6]	"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.
[7]	"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.
[8]	"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.
[9]	"Mutations in TRPM1 are a common cause of complete congenital stationary night blindness." van Genderen M.M., Bijveld M.M., Claassen Y.B., Florijn R.J., Pearring J.N., Meire F.M., McCall M.A., Riemslag F.C., Gregg R.G., Bergen A.A., Kamermans M. Am. J. Hum. Genet. 85:730-736(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CSNB1C CYS-74; PRO-99; ARG-364; ARG-534 AND HIS-611.
[10]	"TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness." Audo I., Kohl S., Leroy B.P., Munier F.L., Guillonneau X., Mohand-Said S., Bujakowska K., Nandrot E.F., Lorenz B., Preising M., Kellner U., Renner A.B., Bernd A., Antonio A., Moskova-Doumanova V., Lancelot M.E., Poloschek C.M., Drumare I. , Defoort-Dhellemmes S., Wissinger B., Leveillard T., Hamel C.P., Schorderet D.F., De Baere E., Berger W., Jacobson S.G., Zrenner E., Sahel J.A., Bhattacharya S.S., Zeitz C. Am. J. Hum. Genet. 85:720-729(2009) [PubMed] [Europe PMC] [Abstract] 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.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF071787 mRNA. Translation: AAC80000.1. 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.
IPI	IPI00792283. IPI00889562. IPI00889735. IPI01009907.
RefSeq	NP_002411.3. NM_002420.5.
UniGene	Hs.155942. Hs.732541.
3D structure databases
ProteinModelPortal	Q7Z4N2.
SMR	Q7Z4N2. Positions 1183-1234.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000380897.
Protein family/group databases
TCDB	1.A.4.5.2. transient receptor potential Ca2+ channel (TRP-CC) family.
PTM databases
PhosphoSite	Q7Z4N2.
Polymorphism databases
DMDM	182701419.
Proteomic databases
PaxDb	Q7Z4N2.
PRIDE	Q7Z4N2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000397795; ENSP00000380897; ENSG00000134160. ENST00000558768; ENSP00000453119; ENSG00000134160. ENST00000560658; ENSP00000454077; ENSG00000134160. ENST00000560801; ENSP00000453644; ENSG00000134160.
GeneID	4308.
KEGG	hsa:4308.
UCSC	uc001zfm.3. human. uc010azy.3. human.
Organism-specific databases
CTD	4308.
GeneCards	GC15M031293.
HGNC	HGNC:7146. TRPM1.
HPA	HPA014785.
MIM	603576. gene. 613216. phenotype.
neXtProt	NX_Q7Z4N2.
Orphanet	215. Congenital stationary night blindness.
PharmGKB	PA35496.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG253824.
HOGENOM	HOG000230920.
HOVERGEN	HBG055663.
KO	K04976.
OrthoDB	EOG495ZR0.
Gene expression databases
ArrayExpress	Q7Z4N2.
Bgee	Q7Z4N2.
CleanEx	HS_TRPM1.
Genevestigator	Q7Z4N2.
Family and domain databases
InterPro	IPR005821. Ion_trans_dom. [Graphical view]
Pfam	PF00520. Ion_trans. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4308.
NextBio	16953.
SOURCE	Search...

Entry information

Entry name

TRPM1_HUMAN

Accession

Primary (citable) accession number: Q7Z4N2
Secondary accession number(s): O75560 , Q7Z4N1, Q7Z4N3, Q7Z4N4, Q7Z4N5

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	April 8, 2008
Last modified:	May 29, 2013
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.