Homo sapiens melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R), Genbank: nm 002386
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| Last update: 20.07.2010 Homo sapiens melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R), Genbank: NM_002386 Nucleotides are numbered in blue Aminoacids are numbered in green Sequence variations underlying | Red Hair / Vitiligo, | Albinism / light skin complexion, | Polymorphisms, | Carcinoma A: cAMP recognition
-650 -640 -620 -610 | -590 -580 g agagg gcagg tcccg gggaa gctcc ggact cctag agggg cggcc aggtg ggggc cctgg tgacc c tctcc cgtcc agggc ccctt cgagg cctga ggatc tcccc gccgg tccac ccccg ggacc actgg -570 -560 -550 -540 -530 -520 -510 aggac agact gtggt gtttt ttaac gtaaa ggaga tccgc ggtgt gaggg acccc ctggg tcctg cacgc cgcct tcctg tctga cacca caaaa aattg cattt cctct aggcg ccaca ctccc tgggg gaccc aggac gtgcg gcgga
-500 | -480 -470 -460 | -440 -430 ggtgg caggc cgggc catgg tgggt gctca cgccc ccggc atgtg gccgc cctca gtggg agggg ctctg agaac ccacc gtccg gcccg gtacc accca cgagt gcggg ggccg tacac cggcg ggagt caccc tcccc gagac tcttg TATA-box (25) -420 -410 -400 -390 -380 -370 -360 gactt tttaa aacgc agaga aaagc tccat tcttc ccagg acctc agcgc agccc tggcc cagga aggca ggaga ctgaa aaatt ttgcg tctct tttcg aggta agaag ggtcc tggag tcgcg tcggg accgg gtcct tccgt cctct -350 -340 -330 -320 -310 -300 -290 -280 cagag gccag gacgg tccag aggtg tcgaa atgtc ctggg gacct gagca gcagc cacca gggaa gaggc aggga gtctc cggtc ctgcc aggtc tccac agctt tacag gaccc ctgga ctcgt cgtcg gtggt ccctt ctccg tccct
gggag ctgag gacca ggctt ggttg tgaga atccc tgagc ccagg cggta gatgc cagga ggtgt ctgga ctggc ccctc gactc ctggt ccgaa ccaac actct taggg actcg ggtcc gccat ctacg gtcct ccaca gacct gaccg
tgggc catgc ctggg ctgac ctgtc cagcc aggga gaggg tgtga gggca gatct ggggg tgccc agatg gaagg acccg gtacg gaccc gactg gacag gtcgg tccct ctccc acact cccgt ctaga ccccc acggg tctac cttcc
aggca ggcat ggggg acacc caagg ccccc tggca gcacc atgaa ctaag cagga cacct ggagg ggaag aactg tccgt ccgta ccccc tgtgg gttcc ggggg accgt cgtgg tactt gattc gtcct gtgga cctcc ccttc ttgac
|------------------------> MC1a tgggg acctg gaggc ctcca acgac tcctt cctgc ttcct ggaca ggact ATG GCT GTG CAG GGA TCC CAG acccc tggac ctccg gaggt tgctg aggaa ggacg aagga cctgt cctga TAC CGA CAC GTC CCT AGG GTC Met Ala Val Gln Gly Ser Gln M A V Q G S Q 1 5
G=Ala (15,18,9) T=Gly (10) | 30 45 | 60 | | AGA AGA CTT CTG GGC TCC CTC AAC TCC ACC CCC ACA GCC ATC CCC CAG CTG GGG CTG GCT GCC AAC TCT TCT GAA GAC CCG AGG GAG TTG AGG TGG GGG TGT CGG TAG GGG GTC GAC CCC GAC CGA CGG TTG Arg Arg Leu Leu Gly Ser Leu Asn Ser Thr Pro Thr Ala Ile Pro Gln Leu Gly Leu Ala Ala Asn R R L L G S L N S T P T A I P Q L G L A A N 10 15 20 25 A=Tyr (18,19) G=Val (18,19) | A=Met(18,19) | C=Leu(10,18) (18,5)A=Leu | | C=Thr (6,9) | | T=Ile (5,18) | 90 | | | | | | | CAG ACA GGA GCC CGG TGC CTG GAG GTG TCC ATC TCT GAC GGG CTC TTC CTC AGC CTG GGG CTG GTG GTC TGT CCT CGG GCC ACG GAC CTC CAC AGG TAG AGA CTG CCC GAG AAG GAG TCG GAC CCC GAC CAC Gln Thr Gly Ala Arg Cys Leu Glu Val Ser Ile Ser Asp Gly Leu Phe Leu Ser Leu Gly Leu Val Q T G A R C L E V S I S D G L F L S L G L V 30 35 40 45 50
| T=Ser (4,9,24) | | T=Asn (2) | | | A=Gln (9,17-19) 165 | | | | 210 AGC TTG GTG GAG AAC GCG CTG GTG GTG GCC ACC ATC GCC AAG AAC CGG AAC CTG CAC TCA CCC ATG TCG AAC CAC CTC TTG CGC GAC CAC CAC CGG TGG TAG CGG TTC TTG GCC TTG GAC GTG AGT GGG TAC Ser Leu Val Glu Asn Ala Leu Val Val Ala Thr Ile Ala Lys Asn Arg Asn Leu His Ser Pro Met S L V E N A L V V A T I A K N R N L H S P M 55 60 65 70 C=Pro (9,15,18) | C=Pro (1,9,18) | |T=Leu (18) | || A=Glu (2,7,9,4,15,20,18,22,23,29) | || | T=Val (10) | || | | (15,18,19,4) Met=T | || | | G=Asp (9) | | || | | | C=Leu (24) | | || | | | A=Met (2,4,6 | | || | | | | 7,9,10,15,18, | || | | | | 20,23,28) | A=Tyr (4,9,24) | || | | | | G=Arg(9)| 225 | 240 | || | 255 | 270 | | | | TAC TGC TTC ATC TGC TGC CTG GCC TTG TCG GAC CTG CTG GTG AGC GGG AGC AAC GTG CTG GAG ACG ATG ACG AAG TAG ACG ACG GAC CGG AAC AGC CTG GAC GAC CAC TCG CCC TCG TTG CAC GAC CTC TGC Tyr Cys Phe Ile Cys Cys Leu Ala Leu Ser Asp Leu Leu Val Ser Gly Ser Asn Val Leu Glu Thr Y C F I C C L A L S D L L V S G S N V L E T 75 80 85 90 95 T=Val (1,4) A=Ile (4,9,24) |T=Ala (5,18) | || A=Ser (9,15,29) | || | A=Gln (4,9,18,28,29)T=Val (18) (10) Asp=T | A=Ile (5,18) || | |A=Leu (5,9,18) ||------------------------ | | 300 || | 315 || 330 | 345 | GCC GTC ATC CTC CTG CTG GAG GCC GGT GCA CTG GTG GCC CGG GCT GCG GTG CTG CAG CAG CTG GAC CGG CAG TAG GAG GAC GAC CTC CGG CCA CGT GAC CAC CGG GCC CGA CGC CAC GAC GTC GTC GAC CTG Ala Val Ile Leu Leu Leu Glu Ala Gly Ala Leu Val Ala Arg Ala Ala Val Leu Gln Gln Leu Asp A V I L L L E A G A L V A R A A V L Q Q L D 100 105 110 115
| G=Glu (10) | | A=Met (9,6,7,9,18) --> MC1Ria| | | C=Val (18,19) | | | | 390 405 AAT GTC ATT GAC GTG ATC ACC TGC AGC TCC ATG CTG TCC AGC CTC TGC TTC CTG GGC GCC ATC GCC TTA CAG TAA CTG CAC TAG TGG ACG TCG AGG TAC GAC AGG TCG GAG ACG AAG GAC CCG CGG TAG CGG Asn Val Ile Asp Val Ile Thr Cys Ser Ser Met Leu Ser Ser Leu Cys Phe Leu Gly Ala Ile Ala N V I D V I T C S S M L S S L C F L G A I A 120 125 130 135 T=Cys (1-3,7,9,10,13,14,15,16,18,19,20,23,26-28) | C=Thr(1,2,7,9,10,14,15,18,20,23) | | (1,2,7,9,13-18) T=Trp (20,23, | T=Arg (9,10,15)| T=Leu (db) |26) A=His(1,2,7,9,10,13,15,18,20,23,26)| | | | C=Leu(10) |Gln (18) | T=Tyr (30)| | A=ter (1,9 | | | X=Leu || 420 | 435 | 450 | | |10,18,23) | | | (9) || GTG GAC CGC TAC ATC TCC ATC TTC TAC GCA CTG CGC TAC CAC AGC ATC GTG ACC CTG CCG CGG GCG CAC CTG GCG ATG TAG AGG TAG AAG ATG CGT GAC GCG ATG GTG TCG TAG CAC TGG GAC GGC GCC CGC
Val Asp Arg Tyr Ile Ser Ile Phe Tyr Ala Leu Arg Tyr His Ser Ile Val Thr Leu Pro Arg Ala V D R Y I S I F Y A L R Y H S I V T L P R A 140 145 150 155 160 AAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA
|A=Gln (2,7,9,10,13,15,17,18,20,26) || insG (10) || G=Gly(db) || |A=Ala (18) || || T=Ile (5,18) || || | A=Asp (1,9,18) || || | | del (15) insC (12,23,28) || || | | | | A=Ile (9,15,18) | Tyr=T (18,15) || 495 || | 510 | |-| | 525 |540 | CGG CGA GCC GTT GCG GCC ATC TGG GTG GCC AGT GTC GTC TTC AGC ACG CTC TTC ATC GCC TAC TAC GCC GCT CGG CAA CGC CGG TAG ACC CAC CGG TCA CAG CAG AAG TCG TGC GAG AAG TAG CGG ATG ATG -------------| MC1Rib Arg Arg Ala Val Ala Ala Ile Trp Val Ala Ser Val Val Phe Ser Thr Leu Phe Ile Ala Tyr Tyr R R A V A A I W V A S V V F S T L F I A Y Y 165 170 175 180 A=Asn (29) | A=Met (10) C=Leu (5,18,29) (10) Met =A | 555 | 570 585 | 600 615 | GAC CAC GTG GCC GTC CTG CTG TGC CTC GTG GTC TTC TTC CTG GCT ATG CTG GTG CTC ATG GCC GTG CTG GTG CAC CGG CAG GAC GAC ACG GAG CAC CAG AAG AAG GAC CGA TAC GAC CAC GAG TAC CGG CAC Asp His Val Ala Val Leu Leu Cys Leu Val Val Phe Phe Leu Ala Met Leu Val Leu Met Ala Val D H V A V L L C L V V F F L A M L V L M A V 185 190 195 200 205 A=Leu (db) A=Thr (10) | T=Trp (10,18,19) | T=Gly (18) A=Gln (10) 630 | | 645 | | | 675 CTG TAC GTC CAC ATG CTG GCC CGG GCC TGC CAG CAC GCC CAG GGC ATC GCC CGG CTC CAC AAG AGG GAC ATG CAG GTG TAC GAC CGG GCC CGG ACG GTC GTG CGG GTC CCG TAG CGG GCC GAG GTG TTC TCC Leu Tyr Val His Met Leu Ala Arg Ala Cys Gln His Ala Gln Gly Ile Ala Arg Leu His Lys Arg L Y V H M L A R A C Q H A Q G I A R L H K R 210 215 220 225 A=Gln (18) | A=Leu (9,15,18) | |A=Pro (9,15,18) | || A=Gln (5,9,10,15,18,20) | || | T=Gly (db) | || | | C=Ala (18) | || | | | (18) Val=T | || | 705 | | 735 | CAG CGC CCG GTC CAC CAG GGC TTT GGC CTT AAA GGC GCT GTC ACC CTC ACC ATC CTG CTG GGC ATT GTC GCG GGC CAG GTG GTC CCG AAA CCG GAA TTT CCG CGA CAG TGG GAG TGG TAG GAC GAC CCG TAA Gln Arg Pro Val His Gln Gly Phe Gly Leu Lys Gly Ala Val Thr Leu Thr Ile Leu Leu Gly Ile Q R P V H Q G F G L K G A V T L T I L L G I 230 235 240 245
T=Ser (1,9) | G=Val (5,18) | C=Pro (9,15,18) | | G=Arg (30) 750 765 | | | | | 810 TTC TTC CTC TGC TGG GGC CCC TTC TTC CTG CAT CTC ACA CTC ATC GTC CTC TGC CCC GAG CAC CCC AAG AAG GAG ACG ACC CCG GGG AAG AAG GAC GTA GAG TGT GAG TAG CAG GAG ACG GGG CTC GTG GGG Phe Phe Leu Cys Trp Gly Pro Phe Phe Leu His Leu Thr Leu Ile Val Leu Cys Pro Glu His Pro F F L C W G P F F L H L T L I V L C P E H P 250 255 260 265 270
| T=Cys (9,18) | G=Ser (15) | | A=Ser (10) | | A=Lys (15,18,19) G=Met (9) | | | 825 | | 840 855 | 870 ACG TGC GGC TGC ATC TTC AAG AAC TTC AAC CTC TTT CTC GCC CTC ATC ATC TGC AAT GCC ATC ATC TGC ACG CCG ACG TAG AAG TTC TTG AAG TTG GAG AAA GAG CGG GAG TAG TAG ACG TTA CGG TAG TAG Thr Cys Gly Cys Ile Phe Lys Asn Phe Asn Leu Phe Leu Ala Leu Ile Ile Cys Asn Ala Ile Ile T C G C I F K N F N L F L A L I I C N A I I 275 280 285 290
| A=Thr (2,9) (28,20-18,10,9,5) G=Thr | | T=Phe (5,9,18,28) T=Met (18) | | 885 | | 915 | 930 | 945 GAC CCC CTC ATC TAC GCC TTC CAC AGC CAG GAG CTC CGC AGG ACG CTC AAG GAG GTG CTG ACA TGC CTG GGG GAG TAG ATG CGG AAG GTG TCG GTC CTC GAG GCG TCC TGC GAG TTC CTC CAC GAC TGC ACG Asp Pro Leu Ile Tyr Ala Phe His Ser Gln Glu Leu Arg Arg Thr Leu Lys Glu Val Leu Thr Cys D P L I Y A F H S Q E L R R T L K E V L T C 295 300 305 310 315 AAAAAAAAAAA T=Ser (9,10) a (28) | 954 964 | 974 984 994 1004 1014 TCC TGG TGA gcgcg gtgca cgcgg cttta agtgt gctgg gcaga gggag gtggt gatat tgtgt ggtct ggttc AGG ACC ACT cgcgc cacgt gcgcc gaaat tcaca cgacc cgtct ccctc cacca ctata acaca ccaga ccaag <----------------------| MC1b Ser Trp ter S W X 317
1024 1034 1044 1054 1064 1074 1084 | ctgtg tgacc ctggg cagtt cctta cctcc ctggt ccccg tttgt caaag aggat ggact aaatg atctc tgaaa gacac actgg gaccc gtcaa ggaat ggagg gacca ggggc aaaca gtttc tccta cctga tttac tagag acttt
1104 | 1124 1134 1144 1154 1164 1174 gtgtt gaagc gcgga ccctt ctggg tccag ggagg ggtcc ctgca aaact ccagg cagga cttct cacca gcagt cacaa cttcg cgcct gggaa gaccc aggtc cctcc ccagg gacgt tttga ggtcc gtcct gaaga gtggt cgtca 1184 1194 1204 1214 1224 1234 1244 cgtgg ggaac ggagg aggac atggg gaggt tgtgg ggcct caggc tccgg gcacc agggg ccaac ctcag gctcc gcacc ccttg cctcc tcctg taccc ctcca acacc ccgga gtccg aggcc cgtgg tcccc ggttg gagtc cgagg
taaag agaca ttttc cgccc actcc tggga cactc cgtct gctcc aatga ctgag cagca tccac cccac cccat atttc tctgt aaaag gcggg tgagg accct gtgag gcaga cgagg ttact gactc gtcgt aggtg gggtg gggta
ctttg ctgcc agctc tcagg accgt gccct cgtca gctgg gatgt gaagt ctctg ggtgg aagtg tgtgc caaga gaaac gacgg tcgag agtcc tggca cggga gcagt cgacc ctaca cttca gagac ccacc ttcac acacg gttct
gctac tccca cagca gcccc aggag aaggg gcttt gtgac cagaa agctt catcc acagc cttgc agcgg ctcct cgatg agggt gtcgt cgggg tcctc ttccc cgaaa cactg gtctt tcgaa gtagg tgtcg gaacg tcgcc gagga
1484 1494 1504 1514 1524 1534 | gcaaa aggag gtgaa atccc tgcct caggc caagg gacca ggttt gcagg agccc cccta gtggt atggg gctga cgttt tcctc cactt taggg acgga gtccg gttcc ctggt ccaaa cgtcc tcggg gggat cacca taccc cgact 1554 1564 1574 1584 1594 1604 1614 1624 gccct cctga gggcc ggttc taagg ctcag actgg gcact ggggc ctcag cctgc tttcc tgcag cagtc gccca cggga ggact cccgg ccaag attcc gagtc tgacc cgtga ccccg gagtc ggacg aaagg acgtc gtcag cgggt
agcag acagc cctgg caaat gcctg actca gtgac cagtg cctgt gagca tgggg ccagg aaagt ctggt aataa tcgtc tgtcg ggacc gttta cggac tgagt cactg gtcac ggaca ctcgt acccc ggtcc tttca gacca ttatt
atgtg actca gcatc accca cctta aaaaa aaaaa aaaaa aaaaa aaaaa aaaaa aaaaa aaaaa tacac tgagt cgtag tgggt ggaat ttttt ttttt ttttt ttttt ttttt ttttt ttttt ttttt
(1)=[1] (2)=[2] (3)=[3] (4)=[4] (5)=[5] (6)=[6] (7)=[7] (8)=[8] (9)=[9] (10)=[10] (11)=[11] (12)=[12] (13)=[13] (14)=[14] (15)=[15] (16)=[16] (17)=[17] (18)=[18] (19)=[19] (20)=[20] (21)=[21] (22)=[22] (23)=[23] (24)=[24] (25)=[25] (26)=[26] (27)=[27] (28)=[28] (29)=[29] (30)=[30]
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Ringholm,A., Klovins,J., Rudzish,R., Phillips,S., Rees,J.L., and Schiöth,H.B. Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. 2004; J Invest Dermatol. 123: 917-923. PMID: 15482480 10. Scherer,D., Bermejo,J.L., Rudnai,P., Gurzau,E., Koppova,K., Hemminki,K., and Kumar,R. MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. 2008; Int.J.Cancer. 122: 1787-1793. PMID: 18067130 11. Stokowski,R.P., Pant,P.V., Dadd,T., Fereday,A., Hinds,D.A., Jarman,C., Filsell,W., Ginger,R.S., Green,M.R., van der Ouderaa,F.J., and Cox,D.R. A genomewide association study of skin pigmentation in a South Asian population. 2007; Am.J.Hum.Genet. 81: 1119-1132. PMID: 17999355 12. Beaumont,K.A., Shekar,S.N., Cook,A.L., Duffy,D.L., and Sturm,R.A. Red hair is the null phenotype of MC1R. 2008; Hum.Mutat. 29: E88-E94 PMID: 18484624 13. 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Significance of the melanocortin 1 receptor in regulating human melanocyte pigmentation, proliferation, and survival. 2003; Ann.N.Y.Acad.Sci. 994:359-65.: 359-365. PMID: 12851336 17. Na,G.Y., Lee,K.H., Kim,M.K., Lee,S.J., Kim,d.W., and Kim,J.C. Polymorphisms in the melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) genes in Korean vitiligo patients. 2003; Pigment Cell Res. 16: 383-387. PMID: 12859622 18. Savage,S.A., Gerstenblith,M.R., Goldstein,A.M., Mirabello,L., Fargnoli,M.C., Peris,K., and Landi,M.T. Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R. 2008; BMC.Genet. 9:31.: 31 PMID: 18402696 19. Fargnoli,M.C., Chimenti,S., Keller,G., Hofler,H., and Peris,K. Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population. 2003; Hum.Mutat. 21: 655 PMID: 14961558 20. Kanetsky,P.A., Ge,F., Najarian,D., Swoyer,J., Panossian,S., Schuchter,L., Holmes,R., Guerry,D., and Rebbeck,T.R. Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach. 2004; Cancer Epidemiol.Biomarkers Prev. 13: 808-819. PMID: 15159314 21. Xu,X., Thornwall,M., Lundin,L.G., and Chhajlani,V. Val92Met variant of the melanocyte stimulating hormone receptor gene. 1996; Nat.Genet. 14: 384 PMID: 8944016 22. Valverde,P., Healy,E., Sikkink,S., Haldane,F., Thody,A.J., Carothers,A., Jackson,I.J., and Rees,J.L. The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. 1996; Hum.Mol.Genet. 5: 1663-1666. PMID: 8894704 23. Grimes,E.A., Noake,P.J., Dixon,L., and Urquhart,A. Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype. 2001; Forensic Sci.Int. 122: 124-129. PMID: 11672965 24. Abdel-Malek,Z., Suzuki,I., Tada,A., Im,S., and Akcali,C. The melanocortin-1 receptor and human pigmentation. 1999; Ann.N.Y.Acad.Sci. 885:117-33.: 117-133. PMID: 10816645 25. Smith,A.G., Box,N.F., Marks,L.H., Chen,W., Smit,D.J., Wyeth,J.R., Huttley,G.A., Easteal,S., and Sturm,R.A. The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution. 2001; Gene. 281: 81-94. PMID: 11750130 26. Beaumont,K.A., Shekar,S.N., Newton,R.A., James,M.R., Stow,J.L., Duffy,D.L., and Sturm,R.A. Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. 2007; Hum.Mol.Genet. 16: 2249-2260. PMID: 17616515 27. Sturm,R.A., Duffy,D.L., Box,N.F., Newton,R.A., Shepherd,A.G., Chen,W., Marks,L.H., Leonard,J.H., and Martin,N.G. Genetic association and cellular function of MC1R variant alleles in human pigmentation. 2003; Ann.N.Y.Acad.Sci. 994:348-58.: 348-358. PMID: 12851335 28. Murthy,K.K., Mahboubi,V.S., Santiago,A., Barragan,M.T., Knoll,R., Schultheiss,H.P., O'Connor,D.T., Schork,N.J., and Rana,B.K. Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R. 2005; Hum.Mutat. 26: 145-152. PMID: 15957185 29. Preising,M.N., Forster,H., and Lorenz,B. Mutations screening of TYR, OCA2, GPR143, and MC1R in Patients Identified by Congenital Nystagmus, Macular Hypoplasia and Hypopiogmentatof the Fundus; the Classical Features of Ocular and Oculocutaneous Albinism. 2010;(unpublished) 30. Renugadevi,K., Sil,A.K., Perumalsamy,V., and Sundaresan,P. Novel Mutations in MC1R. 2010; personal communication Yüklə 78,86 Kb. Dostları ilə paylaş:
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