CYP1B1

Protein identityUniProt · HPA

UniProt accession

Q16678

Gene

CYP1B1

Ensembl

ENSG00000138061

Chromosome

2

Canonical length

543 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene 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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

543 residues, UniProt reviewed canonical sequence.

>Q16678|CYP1B1
     1  MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA PPGPFAWPLI
    61  GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
   121  ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
   181  LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
   241  VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
   301  EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
   361  DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
   421  FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
   481  FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
   541  TCQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP1B1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

42 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP1B1.

Disease | AllUniProt

Conditions CYP1B1 is implicated in, by any mechanism.

• Anterior segment dysgenesis 6 (ASGD6) MIM:617315
• Glaucoma 3, primary congenital, A (GLC3A) MIM:231300
• Glaucoma 1, open angle, A (GLC1A) MIM:137750

Disease | GeneticClinVar

127 pathogenic / likely-pathogenic of 599 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Anterior segment dysgenesis 6
• Glaucoma 3A
• Congenital glaucoma
• CYP1B1-related glaucoma with or without anterior segment dysgenesis
• Primary congenital glaucoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.18

gnomAD pLI

0

gnomAD missense Z

-0.75

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• angiogenesis
• arachidonate metabolic process
• blood vessel endothelial cell migration
• blood vessel morphogenesis
• cell adhesion
• cellular response to hydrogen peroxide
• collagen fibril organization
• endothelial cell migration
• endothelial cell-cell adhesion
• epoxygenase P450 pathway
• estrogen metabolic process
• intrinsic apoptotic signaling pathway in response to oxidative stress
• membrane lipid catabolic process
• negative regulation of cell adhesion mediated by integrin
• negative regulation of cell migration
• negative regulation of cell population proliferation
• negative regulation of NF-kappaB transcription factor activity
• nitric oxide biosynthetic process
• omega-hydroxylase P450 pathway
• positive regulation of angiogenesis
• positive regulation of apoptotic process
• positive regulation of receptor signaling pathway via JAK-STAT
• positive regulation of vascular endothelial growth factor production
• regulation of reactive oxygen species metabolic process
• response to toxic substance
• retinal blood vessel morphogenesis
• retinal metabolic process
• retinol metabolic process
• steroid catabolic process
• steroid metabolic process
• sterol metabolic process
• toxin metabolic process
• trabecular meshwork development
• xenobiotic catabolic process
• xenobiotic metabolic process
• benzene-containing compound metabolic process

Molecular functions

• estrogen 16-alpha-hydroxylase activity
• estrogen 2-hydroxylase activity
• heme binding
• hydroperoxy icosatetraenoate dehydratase activity
• iron ion binding
• monooxygenase activity
• oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
• oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
• steroid hydroxylase activity
• testosterone 6-beta-hydroxylase activity

Cellular components

• endoplasmic reticulum membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Cytochrome P450
• Cytochrome P450, E-class, group I
• Cytochrome P450, conserved site
• Cytochrome P450 superfamily
• Cytochrome P450

KeywordsUniProt

• Endoplasmic reticulum
• Fatty acid metabolism
• Glaucoma
• Heme
• Iron
• Lipid metabolism
• Lyase
• Membrane
• Metal-binding
• Microsome
• Mitochondrion
• Monooxygenase
• Oxidoreductase
• Peters anomaly
• Steroid metabolism