Human Gene CYP1A1 (uc010bju.3)
  Description: Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.
RefSeq Summary (NM_000499): 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. [provided by RefSeq, Jan 2016].
Transcript (Including UTRs)
   Position: hg19 chr15:75,011,883-75,017,877 Size: 5,995 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr15:75,012,830-75,014,646 Size: 1,817 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:75,011,883-75,017,877)mRNA (may differ from genome)Protein (248 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: A4F4K4_HUMAN
DESCRIPTION: SubName: Full=Cytochrome P450 1A1;
SIMILARITY: Belongs to the cytochrome P450 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CYP1A1
CDC HuGE Published Literature: CYP1A1
Positive Disease Associations: 1-hydroxypyrene, urinary , acute coronary syndrome , adenocarcinoma of the lung , anemia, iron deficiency , arthritis , asthma , Behavior, Addictive , Behcet's Disease , blood pressure, arterial , breast cancer , bronchitis; pneumonia , Caffeine , cancer susceptibility , Cigarette Smoking. Coronary Artery Disease. and Diabetes , Coffee , coke-oven toxicity , colorectal cancer , Coronary Artery Disease , CYP1A1 genetic polymorphisms , CYP1A1 polymorphisms , cytogenetic studies , Diastolic blood pressure , DNA damage, biomarkers of , endometrial cancer , endometriosis , esophageal cancer , esophageal carcinoma , laryngeal cancer , leukemia, myeloid , liver cancer; liver disease , Longevity , lung cancer , macular degeneration , non-Hodgkin's lymphoma , Parkinson's disease , preterm delivery , prostate cancer , psoriatic arthritis , smoking , stomach cancer , systemic lupus erythematosus , Upper aerodigestive tract cancers , uterine fibroids
Related Studies:
  1. 1-hydroxypyrene, urinary
    Leng, S. G. et al. 2004, [Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers], Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):245-9. [PubMed 15355699]
    Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.
  2. acute coronary syndrome
    Martin D Jarvis , et al. Clinical and experimental pharmacology & physiology 2009 Jul, CYP1A1 MSPI (T6235C) gene polymorphism is associated with mortality in acute coronary syndromes patients., Clinical and experimental pharmacology & physiology 2009 Jul. [PubMed 19650794]
  3. adenocarcinoma of the lung
    Taioli E et al. 1995, A specific African-American CYP1A1 polymorphism is associated with adenocarcinoma of the lung., Cancer research. 1995 Feb;55(3):472-3. [PubMed 7834609]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CYP1A1
Diseases sorted by gene-association score: ehrlich tumor carcinoma (15), lung squamous cell carcinoma (14), oral cavity cancer (10), oral cancer (9), oral submucous fibrosis (9), hepatocellular adenoma (8), basal cell carcinoma, multiple (7), lung cancer (7), female breast cancer (7), leukoplakia (7), breast disease (6), orofacial cleft (6), acne (6), balkan nephropathy (6), squamous cell carcinoma (6), childhood leukemia (6), toxic oil syndrome (5), clopidogrel resistance (5), conjunctival degeneration (4), pulmonary immaturity (4), acneiform dermatitis (4), pinguecula (4), lymphoblastic leukemia (4), esophageal cancer (3), breast cancer (3), hepatocellular carcinoma (2), colorectal cancer (2), breast adenocarcinoma (2), testicular germ cell tumor (2), lung cancer susceptibility 3 (2), prostate cancer susceptibility (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.87 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 22.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -98.50325-0.303 Picture PostScript Text
3' UTR -354.45947-0.374 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001128 - Cyt_P450
IPR017972 - Cyt_P450_CS
IPR002401 - Cyt_P450_E_grp-I
IPR008066 - Cyt_P450_E_grp-I_CYP1

Pfam Domains:
PF00067 - Cytochrome P450

SCOP Domains:
48264 - Cytochrome P450

ModBase Predicted Comparative 3D Structure on A4F4K4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016712 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
GO:0020037 heme binding
GO:0046872 metal ion binding
GO:0070330 aromatase activity

Biological Process:
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC023019 - Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1, mRNA (cDNA clone MGC:29888 IMAGE:5123393), complete cds.
LF208519 - JP 2014500723-A/16022: Polycomb-Associated Non-Coding RNAs.
K03191 - Human cytochrome P-1-450 (TCDD-inducible) mRNA, complete cds.
JD303122 - Sequence 284146 from Patent EP1572962.
JD428934 - Sequence 409958 from Patent EP1572962.
JD373673 - Sequence 354697 from Patent EP1572962.
JD423272 - Sequence 404296 from Patent EP1572962.
JD555753 - Sequence 536777 from Patent EP1572962.
JD098910 - Sequence 79934 from Patent EP1572962.
JD188735 - Sequence 169759 from Patent EP1572962.
JD470962 - Sequence 451986 from Patent EP1572962.
AK310810 - Homo sapiens cDNA, FLJ17852.
JD477367 - Sequence 458391 from Patent EP1572962.
AH007293 - Homo sapiens cytochrome P450 1A1 (CYP1A1) mRNA, partial cds.
JD175082 - Sequence 156106 from Patent EP1572962.
JD400488 - Sequence 381512 from Patent EP1572962.
AK223113 - Homo sapiens mRNA for cytochrome P450, family 1, subfamily A, polypeptide 1 variant, clone: KAT09250.
JD482187 - Sequence 463211 from Patent EP1572962.
JD399774 - Sequence 380798 from Patent EP1572962.
AK223108 - Homo sapiens mRNA for cytochrome P450, family 1, subfamily A, polypeptide 1 variant, clone: KAT07566.
AM236046 - Homo sapiens mRNA for cytochrome P450 1A1 (CYP1A1 gene), splice variant 5.
AM236047 - Homo sapiens mRNA for cytochrome P450 1A1 (CYP1A1 gene), splice variant 6.
JD479689 - Sequence 460713 from Patent EP1572962.
AY871801 - Homo sapiens cytochrome P450 family 1 subfamily A polypeptide 1 (CYP1A1) mRNA, complete cds, alternatively spliced.
JD266306 - Sequence 247330 from Patent EP1572962.
DQ891515 - Synthetic construct clone IMAGE:100004145; FLH177640.01X; RZPDo839C05126D cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1) gene, encodes complete protein.
AY310359 - Homo sapiens cytochrome P450 1A1 variant (CYP1A1) mRNA, complete cds; alternatively spliced.
E10856 - cDNA encoding human cytochrome P450.
E10857 - cDNA encoding human cytochrome P450.
E10858 - cDNA encoding human cytochrome P450.
E11493 - cDNA encoding human cytochrome P-4501A1.
AK313880 - Homo sapiens cDNA, FLJ94514, Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1(CYP1A1), mRNA.
KJ891012 - Synthetic construct Homo sapiens clone ccsbBroadEn_00406 CYP1A1 gene, encodes complete protein.
KR710640 - Synthetic construct Homo sapiens clone CCSBHm_00015154 CYP1A1 (CYP1A1) mRNA, encodes complete protein.
KR710641 - Synthetic construct Homo sapiens clone CCSBHm_00015155 CYP1A1 (CYP1A1) mRNA, encodes complete protein.
DQ894706 - Synthetic construct Homo sapiens clone IMAGE:100009166; FLH177636.01L; RZPDo839C05125D cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1) gene, encodes complete protein.
M12079 - Human cytochrome P-450 6 mRNA, partial cds.
AM233517 - Homo sapiens partial mRNA for cytochrome P450 1A1 (CYP1A1 gene), alternative splice variant 1.
AM233518 - Homo sapiens mRNA for cytochrome P450 1A1 (CYP1A1 gene), alternative splice variant 2.
AM233519 - Homo sapiens mRNA for cytochrome P450 1A1 (CYP1A1 gene), alternative splice variant 3.
AM233520 - Homo sapiens mRNA for cytochrome P450 1A1 (CYP1A1 gene), alternative splice variant 4.
CU692778 - Synthetic construct Homo sapiens gateway clone IMAGE:100019740 5' read CYP1A1 mRNA.
JD493249 - Sequence 474273 from Patent EP1572962.
JD380587 - Sequence 361611 from Patent EP1572962.
JD119197 - Sequence 100221 from Patent EP1572962.
MA444096 - JP 2018138019-A/16022: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00140 - Steroid hormone biosynthesis
hsa00380 - Tryptophan metabolism
hsa00830 - Retinol metabolism
hsa00980 - Metabolism of xenobiotics by cytochrome P450

-  Other Names for This Gene
  Alternate Gene Symbols: A4F4K4, A4F4K4_HUMAN, AM233517, NM_000499, NP_000490
UCSC ID: uc010bju.3
RefSeq Accession: NM_000499
Protein: A4F4K4

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AM233517.1
exon count: 7CDS single in 3' UTR: no RNA size: 796
ORF size: 747CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1039.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.