Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CYP1B1

contributors: mct - updated : 16-03-2011

HGNC name	cytochrome P450, family 1, subfamily B, polypeptide 1
HGNC id	2597

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GLC3A glaucoma, primary 3A, congenital (buphtalmos) PTA2 Peters anomaly
Location	2p22.2      Physical location : 38.294.745 - 38.303.323
Synonym name	aryl hydrocarbon hydroxylase
	flavoprotein-linked monooxygenase
	microsomal monooxygenase
	cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
Synonym symbol(s)	CP1B
EC.number	1.14.14.1

DNA

TYPE	functioning gene
STRUCTURE	8.58 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

the first exon is not coded

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000104 3 - 5160 NP_000095 - 543 - 1996 8910454

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       lowly Digestive intestine large intestine colon   highly   intestine small intestine     lowly Lymphoid/Immune spleen       highly   thymus       highly Nervous brain       lowly Reproductive female system placenta     lowly   female system ovary     highly   male system prostate     highly   male system seminal vesicles     lowly Respiratory lung       moderately Urinary kidney       highly Visual eye anterior segment         eye uvea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum     lowly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage	expressed in human nonpigmented ciliary epithelial cell line
cell lines	NHEK
fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	eye, trabecular meshwork, fetal thymus

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

HemoP

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to Cyp1b1, Mus musculus
	ortholog to Cyp1b1, Rattus norvegicus
	ortholog to cyp1b1, Danio rerio

Homologene

FAMILY

cytochrome P450 family

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	cytochrome P450, possibly involved in the metabolism of substances active in the eye growth and differentiation
	in liver microsomes involved in an NADPH-dependent electron transport pathway
	playing a role in 4-hydroxylation of 17-beta-estradiol
	inhibiting Na+,K+ ATPase in the cornea
	may be an important source of retinoic acid
	during embryonic and early postnatal development
	monooxygenase, acting to form or degrade some endobiotic compound that is necessary for proper development of the filtering structures
	involved in many metabolic processes including androgen metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , electron transport , detoxification

text	metabolizes endogenous compounds such as steroid hormones, fatty acids, and xenobiotics, including drugs and carcinogens
	putative role in ocular development

PATHWAY

metabolism

drug

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA	CYP1B1 mRNA is strongly and dose dependently induced by TCDD

small molecule	cofactor, nucleotide,
	NADPH, heme

protein	flavoprotein P450 oxidoreductase (POR)
	modifier of MYOC (role in digenic mechanism of GLC1A)

cell & other

REGULATION

activated by	in retinal ganglion cells during development,
		and overexpression of the gene increased
		survival of the cells

induced by	dioxin
		by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)

Other

might be regulated by NR5A1 and CREB1

ASSOCIATED DISORDERS

corresponding disease(s)

GLC3A , PTA2

related resource

Human Cytochrome P450 (CYP) Allele Nomenclature Committee

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in high-grade PIN and in prostate cancer tumoral     --low   by hypermethylation in colorectal cancer

Susceptibility

to the development of glaucoma (GLC1N), primary open angle glaucoma (PCG) to endometrial cancer

Variant & Polymorphism SNP , other	combination of R368H and Myoc mutation correlates with earlier manifestation of GLC1A
	polymorphisms on exons 2 and 3 increasing the risk of endometrial cancer
	rs2567206 (T2805C) significantly associated with PCG (
	heterozygous missens mutations with absent or reduced relative enzymatic activity could be a risk factor for primary open-angle glaucoma

Candidate gene	for Peters anomaly
Marker
Therapy target

ANIMAL & CELL MODELS

Cyp1b1-/- mice have ocular drainage structure abnormalities resembling those reported in human PCG patients. In Cyp1b1-/- mice tyrosinase gene (Tyr) acts as a modifier of the drainage structure phenotype