Gene: CYP1A1

Basic information

Tag Content
Uniprot ID P04798; A4F3V9; A4F3W0; Q53G18;
Entrez ID 1543
Genbank protein ID AAA52152.1; CAA26458.1; AAD10199.1; BAD96833.1; AAH23019.1; CAJ80722.1; CAJ80721.1; CAA27843.1; CAJ80723.1; AAA52139.1; AAK25727.1;
Genbank nucleotide ID NM_001319217.1; NM_001319216.1; NM_000499.4;
Ensembl protein ID ENSP00000455340; ENSP00000369050; ENSP00000455051; ENSP00000457668; ENSP00000378488; ENSP00000456585;
Ensembl nucleotide ID ENSG00000140465
Gene name Cytochrome P450 1A1
Gene symbol CYP1A1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 17160896
Functional description A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301, PubMed:15041462, PubMed:18577768, PubMed:19965576, PubMed:20972997, PubMed:10681376). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301, PubMed:15041462, PubMed:18577768, PubMed:19965576, PubMed:20972997, PubMed:10681376). Catalyzes the hydroxylation of carbon-hydrogen bonds. Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxylated E1 and E2 at the C15-alpha and C16-alpha positions (PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301). Displays different regioselectivities for polyunsaturated fatty acids (PUFA) hydroxylation (PubMed:15041462, PubMed:18577768). Catalyzes the epoxidation of double bonds of certain PUFA (PubMed:15041462, PubMed:19965576, PubMed:20972997). Converts arachidonic acid toward epoxyeicosatrienoic acid (EET) regioisomers, 8,9-, 11,12-, and 14,15-EET, that function as lipid mediators in the vascular system (PubMed:20972997). Displays an absolute stereoselectivity in the epoxidation of eicosapentaenoic acid (EPA) producing the 17(R),18(S) enantiomer (PubMed:15041462). May play an important role in all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376). May also participate in eicosanoids metabolism by converting hydroperoxide species into oxo metabolites (lipoxygenase-like reaction, NADPH-independent) (PubMed:21068195).
Sequence
MLFPISMSAT EFLLASVIFC LVFWVIRASR PQVPKGLKNP PGPWGWPLIG HMLTLGKNPH 60
LALSRMSQQY GDVLQIRIGS TPVVVLSGLD TIRQALVRQG DDFKGRPDLY TFTLISNGQS 120
MSFSPDSGPV WAARRRLAQN GLKSFSIASD PASSTSCYLE EHVSKEAEVL ISTLQELMAG 180
PGHFNPYRYV VVSVTNVICA ICFGRRYDHN HQELLSLVNL NNNFGEVVGS GNPADFIPIL 240
RYLPNPSLNA FKDLNEKFYS FMQKMVKEHY KTFEKGHIRD ITDSLIEHCQ EKQLDENANV 300
QLSDEKIINI VLDLFGAGFD TVTTAISWSL MYLVMNPRVQ RKIQEELDTV IGRSRRPRLS 360
DRSHLPYMEA FILETFRHSS FVPFTIPHST TRDTSLKGFY IPKGRCVFVN QWQINHDQKL 420
WVNPSEFLPE RFLTPDGAID KVLSEKVIIF GMGKRKCIGE TIARWEVFLF LAILLQRVEF 480
SVPLGVKVDM TPIYGLTMKH ACCEHFQMQL RS 512

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCYP1A1A0A452G3V1Capra hircusPredictionMore>>
1:1 orthologCYP1A11543P04798CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologCyp1a113076P00184E12.4, E12.6, E12.5, E13.3, E12.8, E14.3Mus musculusPredictionMore>>
1:1 orthologCYP1A1453744A0A2J8KRU7Pan troglodytesPredictionMore>>
1:1 orthologCYP1A1403103Q8SQ69Sus scrofaPredictionMore>>
1:1 orthologCYP1A1100328613P05176Oryctolagus cuniculusPredictionMore>>
1:1 orthologCyp1a124296P00185Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
CYP1A1rs464621; c.3801T>C Genotyping17160896

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004497 monooxygenase activityIBA
GO:0004497 monooxygenase activityTAS
GO:0005506 iron ion bindingIEA
GO:0005515 protein bindingIPI
GO:0008391 arachidonic acid monooxygenase activityIDA
GO:0016491 oxidoreductase activityIDA
GO:0016679 oxidoreductase activity, acting on diphenols and related substances as donorsIEA
GO:0016711 flavonoid 3'-monooxygenase activityIEA
GO:0016829 lyase activityIEA
GO:0019825 oxygen bindingTAS
GO:0019899 enzyme bindingIEA
GO:0020037 heme bindingIEA
GO:0030544 Hsp70 protein bindingISS
GO:0032451 demethylase activityIEA
GO:0051879 Hsp90 protein bindingISS
GO:0070330 aromatase activityIEA
GO:0070576 vitamin D 24-hydroxylase activityIDA
GO:0101020 estrogen 16-alpha-hydroxylase activityIDA
GO:0101021 estrogen 2-hydroxylase activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0001666 response to hypoxiaIEA
GO:0002933 lipid hydroxylationIDA
GO:0006631 fatty acid metabolic processIDA
GO:0006694 steroid biosynthetic processIEA
GO:0006778 porphyrin-containing compound metabolic processIEA
GO:0007568 agingIEA
GO:0008202 steroid metabolic processIDA
GO:0008210 estrogen metabolic processIDA
GO:0008283 cell population proliferationIEA
GO:0009308 amine metabolic processIEA
GO:0009611 response to woundingIEA
GO:0009615 response to virusIEA
GO:0009624 response to nematodeIEA
GO:0009635 response to herbicideIEA
GO:0009692 ethylene metabolic processTAS
GO:0009804 coumarin metabolic processIEA
GO:0009812 flavonoid metabolic processIEA
GO:0010041 response to iron(III) ionIEA
GO:0017143 insecticide metabolic processIEA
GO:0017144 drug metabolic processIDA
GO:0019216 regulation of lipid metabolic processTAS
GO:0019341 dibenzo-p-dioxin catabolic processIEA
GO:0019373 epoxygenase P450 pathwayTAS
GO:0032094 response to foodIEA
GO:0032496 response to lipopolysaccharideIEA
GO:0033189 response to vitamin AIEA
GO:0035902 response to immobilization stressIEA
GO:0042359 vitamin D metabolic processIC
GO:0042493 response to drugIEA
GO:0042572 retinol metabolic processIEA
GO:0042572 retinol metabolic processIDA
GO:0042759 long-chain fatty acid biosynthetic processTAS
GO:0042904 9-cis-retinoic acid biosynthetic processIEA
GO:0043010 camera-type eye developmentIEA
GO:0046677 response to antibioticIEA
GO:0046685 response to arsenic-containing substanceIEA
GO:0048565 digestive tract developmentIEA
GO:0050665 hydrogen peroxide biosynthetic processIEA
GO:0055093 response to hyperoxiaIEA
GO:0055114 oxidation-reduction processIDA
GO:0060137 maternal process involved in parturitionIEA
GO:0070365 hepatocyte differentiationIEA
GO:0070988 demethylationIEA
GO:0071280 cellular response to copper ionIEA
GO:0071407 cellular response to organic cyclic compoundIDA
GO:0097267 omega-hydroxylase P450 pathwayTAS
GO:1900087 positive regulation of G1/S transition of mitotic cell cycleIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005743 mitochondrial inner membraneISS
GO:0005789 endoplasmic reticulum membraneTAS
GO:0043231 intracellular membrane-bounded organelleIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1430728 MetabolismTAS
R-HSA-1989781 PPARA activates gene expressionTAS
R-HSA-211859 Biological oxidationsTAS
R-HSA-211897 Cytochrome P450 - arranged by substrate typeTAS
R-HSA-211945 Phase I - Functionalization of compoundsTAS
R-HSA-211981 XenobioticsTAS
R-HSA-2142670 Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)TAS
R-HSA-2142753 Arachidonic acid metabolismTAS
R-HSA-2142816 Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)TAS
R-HSA-400206 Regulation of lipid metabolism by PPARalphaTAS
R-HSA-556833 Metabolism of lipidsTAS
R-HSA-8978868 Fatty acid metabolismTAS
R-HSA-9018677 Biosynthesis of DHA-derived SPMsTAS
R-HSA-9018678 Biosynthesis of specialized proresolving mediators (SPMs)TAS
R-HSA-9018681 Biosynthesis of protectinsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0963 Cytoplasm
KW-0256 Endoplasmic reticulum
KW-0276 Fatty acid metabolism
KW-0325 Glycoprotein
KW-0349 Heme
KW-0408 Iron
KW-0444 Lipid biosynthesis
KW-0443 Lipid metabolism
KW-0456 Lyase
KW-0472 Membrane
KW-0479 Metal-binding
KW-0492 Microsome
KW-0496 Mitochondrion
KW-0999 Mitochondrion inner membrane
KW-0503 Monooxygenase
KW-0560 Oxidoreductase
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0752 Steroid biosynthesis

Interpro

InterPro ID InterPro Term
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR008066 Cyt_P450_E_grp-I_CYP1
IPR036396 Cyt_P450_sf

PROSITE

PROSITE ID PROSITE Term
PS00086 CYTOCHROME_P450

Pfam

Pfam ID Pfam Term
PF00067 p450

Protein-protein interaction

Protein-miRNA interaction