Cytochrome P450, Subfamily I, Polypeptide 1

Alternative Names

  • CYP1A1
  • Cytochrome P450, Aromatic Compound-Inducible
  • Aryl Hydrocarbon Hydroxylase
  • AHH
  • Flavoprotein-Linked Monooxygenase
  • Cytochrome P1-450, Dioxin-Inducible
  • Cytochrome P1-450, Inducible By 2,3,7,8-Tetrachlorodibenzo-P-Dioxin
  • Tcdd-Inducible Cytochrome P1-450
  • P450DX
  • Polycyclic Aromatic Compound-Inducible P450
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OMIM Number

108330

NCBI Gene ID

1543

Uniprot ID

P04798

Length

5,987 bases

No. of Exons

7

No. of isoforms

3

Protein Name

Cytochrome P450 1A1

Molecular Mass

58165 Da

Amino Acid Count

512

Genomic Location

chr15:74,719,541-74,725,527

Gene Map Locus
15q24.1

Description

This gene, CYP1A1, 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. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
CYP1A1*2A Allele NG_061374.1:g.11229T>CArab; LebanonNC_000015.10:g.74719300A>GBenign, Drug Response, Risk factorColorectal Cancer; Gastric CancerNG_061374.1:g.11229T>C; CYP1A1*2A Allele NG_061374.1:g.11229T>C4646903
NC_000015.10:g.74745879G>AUnited Arab EmiratesNC_000015.10:g.74745879G>ANG_061543.1:g.2035G>A; NC_000015.10:g.74745879G>A2069514
NM_001319217.2:c.*595T>GArabNC_000015.10:g.74719894A>CBenignNG_061374.1:g.10635T>G; NM_001319217.2:c.*595T>G1800031
NM_001319217.2:c.1382C>TArab; United Arab Emir...NC_000015.10:g.74720646G>ABenignNG_061374.1:g.9883C>T; NM_001319217.2:c.1382C>T; NP_001306146.1:p.Thr461Ile1799814
NM_001319217.2:c.1384A>CArabNC_000015.10:g.74720644T>GBenignNG_061374.1:g.9885A>C; NM_001319217.2:c.1384A>C; NP_001306146.1:p.Ile462Leu1048943

Other Reports

Saudi Arabia

Bu et al. (2004) studied the frequencies of alleles and genotypes for CYP1A1, NAT2, GSTs, MTHFR, MTR (MS), and NQO*1 genes among Arabs.  Of the studied group, 95% were from Saudi Arabia, and 5% were from Jordan, Syria, Lebanon, and Yemen.  The mean age was 37 years, and male to female ratio was (25:1).  Three polymorphisms in the CYP1A1 gene were analyzed: T3801C, A2455G, and C2453A.  Allelic frequencies among the studied group were 20% for 3801C, 7% for 2455G, and 19% for 2453A.

Syria

Al-Achkar et al. (2014) we investigated the associations of polymorphisms in the cytochrome P450 gene (CYP1A1) and the glutathione S-transferase genes (GSTM1 and GSTT1) with chronic myelogenous leukemia (CML).  A total of 126 patients with CML and 172 healthy volunteers were genotyped.  Logistic regression analyses showed significant risk of CML associated with CYP1A1 Val allele [odds ratio (OR) 3.3, 95% confidence intervals (CI) 1.96-5.53], (p < 0.0001) while CYP1A1 Val/Val homozygotes were observed only in the CML patients.  There was statistically significant difference in the frequency of GSTM1 and GSTT1 null genotypes.  The GSTT1-null genotype was slightly higher in 27% of CML cases and 17% of controls (OR 1.98, 95% CI 1.12-3.5) (p < 0.020).  The GSTM1 null was higher in 43% of CML cases and 23% of controls (OR 2.55, 95% CI 1.54-4.22) (p < 0.00024).  Individuals carrying the CYP1A1 Ile/Val (AG) and GSTM1 null genotype have 9.9 times higher risk to be CML than those carrying CYP1A1 Ile/Ile (AA) and GSTM1 present genotype (OR 9.9, 95% CI 2.7-36.3) (p < 0.0001).  Al-Achkar et al. (2014) concluded that the association of the GSTM1 null genotype, either alone or in combination with GSTT1 null, with CYP1AI heterozygous leads to the CML risk.

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