CYP1B1

Cytochrome P450 1B1 is an enzyme that in humans is encoded by the CYP1B1 gene.[5]

CYP1B1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCYP1B1, CP1B, CYPIB1, GLC3A, P4501B1, cytochrome P450 family 1 subfamily B member 1, ASGD6
External IDsOMIM: 601771 MGI: 88590 HomoloGene: 68035 GeneCards: CYP1B1
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2p22.2Start38,066,973 bp[1]
End38,109,902 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1545

13078

Ensembl

ENSG00000138061

ENSMUSG00000024087

UniProt

Q16678

Q64429

RefSeq (mRNA)

NM_000104

NM_009994
NM_001364889

RefSeq (protein)

NP_000095

NP_034124
NP_001351818

Location (UCSC)Chr 2: 38.07 – 38.11 MbChr 17: 79.7 – 79.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

CYP1B1 belongs to 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 (ER) and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol.

Despite over 20 years of research on CYP1A1 and CYP1A2, CYP1B1 was not identified and sequenced until 1994. Nucleic and amino acid analysis showed approximately 40% identity with CYP1A1. Despite this similarity, these two enzymes have very different catalytic efficiencies and metabolites when incubated with common substrates, such as retinoic acid and arachidonic acid. Recently CYP1B1 has been shown to be physiologically important in fetal development, since mutations in CYP1B1 are linked with a form of primary congenital glaucoma.

CYP1A1 and CYP1B1 are regulated by the aryl hydrocarbon receptor, a ligand activated transcription factor. They are part of the Phase I reactions of drug metabolism.

Clinical significance

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.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000138061 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024087 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: cytochrome P450".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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