Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1545

Name

CYP1B1

Synonym

CP1B|CYPIB1|GLC3A|P4501B1;cytochrome P450, family 1, subfamily B, polypeptide 1;CYP1B1;cytochrome P450, family 1, subfamily B, polypeptide 1

Definition

aryl hydrocarbon hydroxylase|cytochrome P450 1B1|cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase

Position

2p22.2

Gene Type

protein-coding

PAH Type

Description

PAH

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females.

PAH

"Serotonin transporter, sex, and hypoxia: microarray analysis in the pulmonary arteries of mice identifies genes with relevance to human PAH."

PAH

Pulmonary CYP1B1 is increased in human pulmonary arterial hypertension and is highly expressed in the pulmonary vascular wall. Inhibition abolished estrogen-indexed proliferation in normal and PAH smooth muscle cells.

PAH

"CYP1B1-mediated estrogen metabolism promotes the development of pulmonary arterial hypertension, likely via the formation of mitogens, including 16alpha-hydroxyestrone."

PAH

"The female predisposition to IPAH may also be related to aberrant expression of a cytochrome, CYP1B1, that leads to a mitogenic estrogen metabolite."
More detail of all Human literatures about CYP1B1

Pathways and Diseases

Pathway

Steroid hormone biosynthesis;KEGG PATHWAY;hsa00140

Pathway

Metabolism of xenobiotics by cytochrome P450;KEGG PATHWAY;hsa00980

Pathway

Biological oxidations;Reactome;REACT:13433

Pathway

Endogenous sterols;PID Reactome;500195

Pathway

Tryptophan metabolism;KEGG PATHWAY;hsa00380

Disease

Glaucoma, primary open angle, adult-onset;OMIM

Disease

liver cancer;GAD

Disease

menarche;GAD

Disease

breast and lung cancer;GAD

Disease

catecholestrogen metabolism;GAD

Disease

Cancer;FunDO

Disease

estrogens;GAD

Disease

Glaucoma;FunDO

Disease

Chronic simple glaucoma;FunDO

Disease

Glaucoma 3A, primary congenital;OMIM

Disease

lung cancer;GAD

Disease

VISION;GAD

Disease

prostate cancer;GAD

Disease

glaucoma, primary congenital;GAD

Disease

glaucoma;GAD

Disease

colorectal cancer;GAD

Disease

METABOLIC;GAD

Disease

menopause;GAD

Disease

pregnancy loss;GAD

Disease

glaucoma, primary open-angle ocular hypertension;GAD

Disease

glaucoma, primary open-angle;GAD

Disease

Peters anomaly;OMIM

Disease

CANCER;GAD

Disease

Endometriosis;FunDO

Disease

1-hyrdoxypyrene glucuronide concentrations;GAD

Disease

catecholestrogen formation;GAD

Disease

REPRODUCTION;GAD

Disease

breast cancer;GAD

Disease

Glaucoma, primary open angle, juvenile-onset;OMIM

Disease

sex hormones;GAD

Disease

Congenital abnormality;FunDO

Disease

Glaucoma, early-onset, digenic;OMIM

Disease

endometrial cancer;GAD

Disease

PAH-DNA adducts;GAD

External Links

Links to Entrez Gene

1545

Links to all GeneRIF Items

1545

Links to iHOP

1545

Sequence Information

Nucleotide Sequence

>1545 : length: 1632
atgggcaccagcctcagcccgaacgacccttggccgctaaacccgctgtccatccagcag
accacgctcctgctactcctgtcggtgctggccactgtgcatgtgggccagcggctgctg
aggcaacggaggcggcagctccggtccgcgcccccgggcccgtttgcgtggccactgatc
ggaaacgcggcggcggtgggccaggcggctcacctctcgttcgctcgcctggcgcggcgc
tacggcgacgttttccagatccgcctgggcagctgccccatagtggtgctgaatggcgag
cgcgccatccaccaggccctggtgcagcagggctcggccttcgccgaccggccggccttc
gcctccttccgtgtggtgtccggcggccgcagcatggctttcggccactactcggagcac
tggaaggtgcagcggcgcgcagcccacagcatgatgcgcaacttcttcacgcgccagccg
cgcagccgccaagtcctcgagggccacgtgctgagcgaggcgcgcgagctggtggcgctg
ctggtgcgcggcagcgcggacggcgccttcctcgacccgaggccgctgaccgtcgtggcc
gtggccaacgtcatgagtgccgtgtgtttcggctgccgctacagccacgacgaccccgag
ttccgtgagctgctcagccacaacgaagagttcgggcgcacggtgggcgcgggcagcctg
gtggacgtgatgccctggctgcagtacttccccaacccggtgcgcaccgttttccgcgaa
ttcgagcagctcaaccgcaacttcagcaacttcatcctggacaagttcttgaggcactgc
gaaagccttcggcccggggccgccccccgcgacatgatggacgcctttatcctctctgcg
gaaaagaaggcggccggggactcgcacggtggtggcgcgcggctggatttggagaacgta
ccggccactatcactgacatcttcggcgccagccaggacaccctgtccaccgcgctgcag
tggctgctcctcctcttcaccaggtatcctgatgtgcagactcgagtgcaggcagaattg
gatcaggtcgtggggagggaccgtctgccttgtatgggtgaccagcccaacctgccctat
gtcctggccttcctttatgaagccatgcgcttctccagctttgtgcctgtcactattcct
catgccaccactgccaacacctctgtcttgggctaccacattcccaaggacactgtggtt
tttgtcaaccagtggtctgtgaatcatgacccactgaagtggcctaacccggagaacttt
gatccagctcgattcttggacaaggatggcctcatcaacaaggacctgaccagcagagtg
atgattttttcagtgggcaaaaggcggtgcattggcgaagaactttctaagatgcagctt
tttctcttcatctccatcctggctcaccagtgcgatttcagggccaacccaaatgagcct
gcgaaaatgaatttcagttatggtctaaccattaaacccaagtcatttaaagtcaatgtc
actctcagagagtccatggagctccttgatagtgctgtccaaaatttacaagccaaggaa
acttgccaataa

Protein Sequence

>1545 : length: 543
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLI
GNAAAVGQAAHLSFARLARRYGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADRPAF
ASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQPRSRQVLEGHVLSEARELVAL
LVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSL
VDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSA
EKKAAGDSHGGGARLDLENVPATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAEL
DQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIPHATTANTSVLGYHIPKDTVV
FVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQL
FLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVQNLQAKE
TCQ



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