| Name | cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile) |
| Symbol | CYP1B1 |
| Aliases | CP1B; GLC3A; microsomal monooxygenase; xenobiotic monooxygenase; aryl hydrocarbon hydroxylase; flavoprotein-linked monooxygenase |
| Gene Product | - cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1
|
| Category | - Polymorphism in Prostate cancer
|
| UniGene | Hs.154654 |
| OMIM | 601771 |
| Locus | 1545 |
| Summary | This gene, CYP1B1, 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. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. |
| Gene Ontology | |
| Expression | | EST (274 ESTs, 108 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adipose (1/10) |  | 2/2445 |
| blood (2/27) | | 2/40686 |
| bone (3/13) | | 10/26211 |
| bone marrow (2/263) | | 2/38555 |
| brain (9/204) | | 13/362011 |
| cartilage (2/5) | | 3/11018 |
| cervix (1/7) | | 1/28115 |
| colon (4/853) | | 7/165626 |
| ear (1/2) | | 11/12660 |
| embryo (3/19) | | 8/37976 |
| eye (4/33) | | 7/93836 |
| foreskin (1/4) | | 26/20040 |
| germ cell (2/7) | | 8/57383 |
| head and neck (1/990) | | 1/79796 |
| heart (2/22) | | 5/55494 |
| kidney (6/86) | | 20/132968 |
| lung (13/312) | | 30/245386 |
| muscle (1/21) | | 1/71297 |
| nervous (1/475) | | 2/43438 |
| pancreas (4/33) | | 9/117255 |
| prostate (8/291) |  | 21/109871 |
| skin (1/31) | | 1/100815 |
| spleen (2/7) | | 3/9511 |
| stomach (2/312) | | 4/129930 |
| testis (2/171) | | 6/117531 |
| thymus (1/17) | | 3/5021 |
| uncharacterized tissue (26/1773) | | 60/713325 |
| uterus (3/212) | | 8/155110 |
|
| SAGE (12574111 tags, 262 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (19/19) | | 121/3138579 |
| cerebellum (1/1) | | 2/102560 |
| colon (7/8) | | 47/809983 |
| eye (6/6) | | 19/736601 |
| foreskin (2/2) | | 10/77024 |
| heart (1/1) | | 3/168714 |
| kidney (2/2) | | 4/157649 |
| liver (1/1) | | 2/133722 |
| lung (1/1) | | 8/267429 |
| mammary gland (14/19) | | 152/1794665 |
| ovary (6/10) | | 46/817049 |
| pancreas (7/8) | | 27/654779 |
| prostate (9/13) | | 61/834791 |
| skin (5/7) | | 9/106122 |
| stomach (3/3) | | 22/385165 |
| uncharacterized tissue (18/22) | | 101/2033941 |
| vascular (3/3) | | 11/355338 |
|
|
| SNP | rs3057354 (-/AA:locus-region); rs186662 (C/T:locus-region); rs1056876 (A/C:mrna-utr); rs1056827 (A/G:mrna-utr); rs2672 (T/A:mrna-utr); rs162557 (A/C:mrna-utr); rs2551188 (C/G:locus-region); rs2855655 (G/A:mrna-utr); rs10012 (C/G:coding-nonsyn); rs2567206 (A/G:locus-region); rs1799885 (C/G:mrna-utr); rs2617266 (C/T:mrna-utr); rs10916 (T/G:mrna-utr); rs1800440 (A/G:coding-nonsyn); rs162549 (A/T:mrna-utr); |
| Evidence | Polymorphism in Prostate cancer
|
