| AgACC | Ag003793 |
| Date | 19-08-2008 |
| Last updated | 14-12-2016 |
| Antigen Name | CYP1B1 |
| Common Name | P450 1B1 or CYP1B1 |
| Full Name | Cytochrome P450 1B1 |
| Synonym | GLC3A (Primary Congenital Glaucoma or Buphthalmos); aryl hydrocarbon hydroxylase; cytochrome P450, family 1, subfamily B, polypeptide 1; cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1;(glaucoma 3, primary infantile); flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase; CP1B; EC 1.14.14.1; GLC3A
another display format
- GLC3A (Primary Congenital Glaucoma or Buphthalmos)
- aryl hydrocarbon hydroxylase
- cytochrome P450, family 1, subfamily B, polypeptide 1
- cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1
- (glaucoma 3, primary infantile)
- flavoprotein-linked monooxygenase
- microsomal monooxygenase
- xenobiotic monooxygenase
- CP1B
- EC 1.14.14.1
- GLC3A
|
| UniProt ID | Q16678
|
| NCBI Gene ID | 1545 |
| GeneCard ID | GC02M038034 |
| SwissProt VARIANT ID | VAR_001246 |
| Comment | Primary congenital glaucoma type 3A (GLC3A) - Defects in CYP1B1 are the cause of primary congenital glaucoma type 3A. Primary congenital glaucoma is characterized by large ocular globes resulting from increased intraocular pressure dating from intrauterine life |
| Annotation | This is a fragment sequence. |
| Isoforms | Ag000286, Ag001934, Ag001935, Ag001936, Ag001938
Alignment of all Isoforms |
| Mutation entries | Ag003783, Ag003784, Ag003785, Ag003786, Ag003787, Ag003788, Ag003789, Ag003790, Ag003791, Ag003792, Ag003793, Ag003794, Ag003795, Ag003796, Ag003797, Ag003798, Ag003799, Ag003800, Ag003801
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| HLA ligand | Ligand Sequence | Position | HLA allele | Reference | | NLPYVLAFL | 24-32 | A*0201 |
15688394 |
| Predicted HLA binders | |
| Reference sequence | TRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSF |
| Antigen sequence | TRVQAELDQVVGRDRLPCMGNQPNLPYVLAFLYEAMRFSSF |
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