Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.
| RefSeq Version | NM_000499.3, 189339226 |
| Length | 2608 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA. |
| Product | cytochrome P450 1A1 |
| Comment | Summary: This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. [provided by RefSeq]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. |
| RefSeq | NP_000490.1 |
| CDS | 123..1661 | Exon (1) | 1..96 | Exon (2) | 1..96 | Exon (3) | 97..947 | Exon (4) | 948..1074 | Exon (5) | 1075..1164 | Exon (6) | 1165..1288 | Exon (7) | 1289..1375 | Exon (8) | 1376..2608 |
| Translation | MLFPISMSATEFLLASVIFCLVFWVIRASRPQVPKGLKNPPGPWGWPLIGHMLTLGKNPH
LALSRMSQQYGDVLQIRIGSTPVVVLSGLDTIRQALVRQGDDFKGRPDLYTFTLISNGQS
MSFSPDSGPVWAARRRLAQNGLKSFSIASDPASSTSCYLEEHVSKEAEVLISTLQELMAG
PGHFNPYRYVVVSVTNVICAICFGRRYDHNHQELLSLVNLNNNFGEVVGSGNPADFIPIL
RYLPNPSLNAFKDLNEKFYSFMQKMVKEHYKTFEKGHIRDITDSLIEHCQEKQLDENANV
QLSDEKIINIVLDLFGAGFDTVTTAISWSLMYLVMNPRVQRKIQEELDTVIGRSRRPRLS
DRSHLPYMEAFILETFRHSSFVPFTIPHSTTRDTSLKGFYIPKGRCVFVNQWQINHDQKL
WVNPSEFLPERFLTPDGAIDKVLSEKVIIFGMGKRKCIGETIARWEVFLFLAILLQRVEF
SVPLGVKVDMTPIYGLTMKHACCEHFQMQLRS
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| Position | Chain | Variation | Link |
| 256 | + | a, g | dbSNP:4646422 |
| 318 | + | a, g | dbSNP:35035798 |
| complement(331) | - | t, c | dbSNP:112517897 |
| complement(355) | - | g, a | dbSNP:17861094 |
| complement(362) | - | g, a | dbSNP:55864856 |
| complement(368) | - | g, a | dbSNP:112522537 |
| complement(384) | - | t, c | dbSNP:77425771 |
| 399 | + | c, t | dbSNP:2229150 |
| 400 | + | a, g | dbSNP:45528935 |
| 437..438 | + | a, cc | dbSNP:34045449 |
| 443 | + | c, t | dbSNP:35267501 |
| complement(444) | - | c, a | dbSNP:78901429 |
| 516 | + | c, g | dbSNP:35196245 |
| 525 | + | c, t | dbSNP:45442501 |
| 635 | + | a, c | dbSNP:28399426 |
| 640 | + | c, g | dbSNP:28399427 |
| complement(695) | - | t, c | dbSNP:114311225 |
| complement(834) | - | g, a | dbSNP:61747605 |
| 957 | + | c, g | dbSNP:34260157 |
| 979 | + | c, t | dbSNP:4987133 |
| complement(1115) | - | t, c | dbSNP:56313657 |
| 1265 | + | a, c | dbSNP:2856833 |
| complement(1296) | - | , ttg | dbSNP:55786658 |
| complement(1336) | - | t, c | dbSNP:56127934 |
| complement(1397..1398) | - | , a | dbSNP:72547510 |
| complement(1465) | - | t, a | dbSNP:72547509 |
| 1504 | + | a, c | dbSNP:1799814 |
| 1506 | + | c, t | dbSNP:1048943 |
| 1508 | + | a, g | dbSNP:74465117 |
| complement(1510) | - | g, c | dbSNP:2278970 |
| complement(1512) | - | t, g | dbSNP:41279188 |
| 1530 | + | g, t | dbSNP:36121583 |
| complement(1551) | - | g, c | dbSNP:56240201 |
| 1566 | + | a, g | dbSNP:28399429 |
| 1569 | + | c, t | dbSNP:45500996 |
| 1595 | + | c, t | dbSNP:45460597 |
| 1597 | + | c, g | dbSNP:28399430 |
| complement(1654) | - | c, a | dbSNP:56343424 |
| complement(1746) | - | t, c | dbSNP:2606346 |
| 1847 | + | c, t | dbSNP:4986880 |
| complement(1956) | - | t, c | dbSNP:56403730 |
| 2004 | + | c, g | dbSNP:4986881 |
| 2009 | + | c, t | dbSNP:28399431 |
| 2020 | + | a, g | dbSNP:4986882 |
| 2127 | + | c, t | dbSNP:35427048 |
| 2256 | + | c, t | dbSNP:1800031 |
| 2274 | + | a, g | dbSNP:4986883 |
| 2284 | + | c, t | dbSNP:4986884 |
| complement(2315..2316) | - | , g | dbSNP:35228499 |
| complement(2369) | - | g, c | dbSNP:17861086 |
| complement(2374) | - | c, a | dbSNP:17861085 |
| 2375 | + | c, g | dbSNP:28399432 |
| complement(2472) | - | t, g | dbSNP:17861084 |
| complement(2579) | - | g, c | dbSNP:28427336 |
| Gene Symbol | CYP1A1 |
| Gene Synonym | AHH; AHRR; CP11; CYP1; P1-450; P450-C; P450DX |
| Chromosome | 15 |
| Locus Map | 15q24.1 |
| All Transcripts | NM_000499 |
| Title | Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption . |
| Author | Sulem,P., Gudbjartsson,D.F., Geller,F., Prokopenko,I., Feenstra,B., Aben,K.K., Franke,B., den Heijer,M., Kovacs,P., Stumvoll,M., Magi,R., Yanek,L.R., Becker,L.C., Boyd,H.A., Stacey,S.N., Walters,G.B., Jonasdottir,A., Thorleifsson,G., Holm,H., Gudjonsson,S.A., Rafnar,T., Bjornsdottir,G., Becker,D.M., Melbye,M., Kong,A., Tonjes,A., Thorgeirsson,T., Thorsteinsdottir,U., Kiemeney,L.A. and Stefansson,K. |
| Journal | Hum. Mol. Genet. (2011) In press |
| Title | Genetic variation in the bioactivation pathway for polycyclic hydrocarbons and heterocyclic amines in relation to risk of colorectal neoplasia . |
| Author | Wang,H., Yamamoto,J.F., Caberto,C., Saltzman,B., Decker,R., Vogt,T.M., Yokochi,L., Chanock,S., Wilkens,L.R. and Le Marchand,L. |
| Journal | Carcinogenesis 32 (2), 203-209 (2011) |
| Title | [Cytochrome P4501A1, glutathione S-transferase M1 and T1 gene polymorphisms in chronic myeloid leukemia] . |
| Author | Ovsepian,V.A., Vinogradova,E.Iu. and Sherstneva,E.S. |
| Journal | Genetika 46 (10), 1360-1362 (2010) |
| Title | Involvement of CYP1A1, GST, 72TP53 polymorphisms in the pathogenesis of thyroid nodules . |
| Author | Reis,A.A., Silva,D.M., Curado,M.P. and da Cruz,A.D. |
| Journal | Genet. Mol. Res. 9 (4), 2222-2229 (2010) |
| Title | Search for an association between the human CYP1A2 genotype and CYP1A2 metabolic phenotype . |
| Author | Jiang,Z., Dragin,N., Jorge-Nebert,L.F., Martin,M.V., Guengerich,F.P., Aklillu,E., Ingelman-Sundberg,M., Hammons,G.J., Lyn-Cook,B.D., Kadlubar,F.F., Saldana,S.N., Sorter,M., Vinks,A.A., Nassr,N., von Richter,O., Jin,L. and Nebert,D.W. |
| Journal | Pharmacogenet. Genomics 16 (5), 359-367 (2006) |
| Title | Toward the evaluation of function in genetic variability: characterizing human SNP frequencies and establishing BAC-transgenic mice carrying the human CYP1A1_CYP1A2 locus . |
| Author | Jiang,Z., Dalton,T.P., Jin,L., Wang,B., Tsuneoka,Y., Shertzer,H.G., Deka,R. and Nebert,D.W. |
| Journal | Hum. Mutat. 25 (2), 196-206 (2005) |
| Title | Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants . |
| Author | Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and Nebert,D.W. |
| Journal | Pharmacogenetics 14 (1), 1-18 (2004) |
| Title | Genetic linkage of lung cancer-associated MspI polymorphisms with amino acid replacement in the heme binding region of the human cytochrome P450IA1 gene . |
| Author | Hayashi,S., Watanabe,J., Nakachi,K. and Kawajiri,K. |
| Journal | J. Biochem. 110 (3), 407-411 (1991) |
| Title | Xenobiotic responsive element in the 5'-upstream region of the human P-450c gene . |
| Author | Kubota,M., Sogawa,K., Kaizu,Y., Sawaya,T., Watanabe,J., Kawajiri,K., Gotoh,O. and Fujii-Kuriyama,Y. |
| Journal | J. Biochem. 110 (2), 232-236 (1991) |
| Title | Identification of genetically high risk individuals to lung cancer by DNA polymorphisms of the cytochrome P450IA1 gene . |
| Author | Kawajiri,K., Nakachi,K., Imai,K., Yoshii,A., Shinoda,N. and Watanabe,J. |
| Journal | FEBS Lett. 263 (1), 131-133 (1990) |
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