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Gene id

1543

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CYP1A1 Gene UCSC Ensembl

Aliases

AHH, AHRR, CP11, CYP1, CYPIA1, P1-450, P450-C, P450DX

Gene name

cytochrome P450 family 1 subfamily A member 1

Alternate names

cytochrome P450 1A1, aryl hydrocarbon hydroxylase, cytochrome P1-450, dioxin-inducible, cytochrome P450 form 6, cytochrome P450, family 1, subfamily A, polypeptide 1, cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1, cytochrome P450-C, c,

Gene location

15q24.1 (74725609: 74719541) Exons: 7 NC_000015.10

Gene summary(Entrez)

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]

OMIM

108330

SNPs

rs1048943

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000677.2   g.74720644T>C
NC_000015.10   g.74720644T>C
NC_000015.9   g.75012985T>A
NC_000015.9   g.75012985T>C
NC_000015.9   g.75012985T>G
NG_008431.2   g.3103T>A
NG_008431.2   g.3103T>C
NG_008431.2   g.3103T>G
NM_000499.4   c.1384A>C
NM_000499.4   c.1384A>G
NM_000499.4   c.1384A>T
NM_001319216.1   c.1297A>C
NM_001319216.1   c.1297A>G
NM_001319216.1   c.1297A>T
NM_001319217.1   c.1384A>C
NM_001319217.1   c.1384A>G
NM_001319217.1   c.1384A>T
NP_000490.1   p.Ile462Leu
NP_000490.1   p.Ile462Phe
NP_000490.1   p.Ile462Val
NP_001306145.1   p.Ile433Leu
NP_001306145.1   p.Ile433Phe
NP_001306145.1   p.Ile433Val
NP_001306146.1   p.Ile462Leu
NP_001306146.1   p.Ile462Phe
NP_001306146.1   p.Ile462Val
XP_005254242.1   p.Ile462Leu
XP_005254242.1   p.Ile462Phe
XP_005254242.1   p.Ile462Val
XP_005254243.1   p.Ile462Leu
XP_005254243.1   p.Ile462Phe
XP_005254243.1   p.Ile462Val
XP_005254244.1   p.Ile434Leu
XP_005254244.1   p.Ile434Phe
XP_005254244.1   p.Ile434Val
XP_005254245.1   p.Ile433Leu
XP_005254245.1   p.Ile433Phe
XP_005254245.1   p.Ile433Val
XP_005254246.1   p.Ile201Leu
XP_005254246.1   p.Ile201Phe
XP_005254246.1   p.Ile201Val
XP_016877442.1   p.Ile434Val
rs1799814

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000677.2   g.74720646G>A
CM000677.2   g.74720646G>T
NC_000015.10   g.74720646G>A
NC_000015.10   g.74720646G>T
NC_000015.9   g.75012987G>A
NC_000015.9   g.75012987G>T
NG_008431.2   g.3105G>A
NG_008431.2   g.3105G>T
NM_000499.4   c.1382C>A
NM_000499.4   c.1382C>T
NM_001319216.1   c.1295C>A
NM_001319216.1   c.1295C>T
NM_001319217.1   c.1382C>A
NM_001319217.1   c.1382C>T
NP_000490.1   p.Thr461Asn
NP_000490.1   p.Thr461Ile
NP_001306145.1   p.Thr432Asn
NP_001306145.1   p.Thr432Ile
NP_001306146.1   p.Thr461Asn
NP_001306146.1   p.Thr461Ile
XP_005254242.1   p.Thr461Asn
XP_005254242.1   p.Thr461Ile
XP_005254243.1   p.Thr461Asn
XP_005254243.1   p.Thr461Ile
XP_005254244.1   p.Thr433Asn
XP_005254244.1   p.Thr433Ile
XP_005254245.1   p.Thr432Asn
XP_005254245.1   p.Thr432Ile
XP_005254246.1   p.Thr200Asn
XP_005254246.1   p.Thr200Ile
XP_016877442.1   p.Thr433Asn
XP_016877442.1   p.Thr433Ile
rs2229150

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.74722821G>A
NC_000015.10   g.74722821G>A
NC_000015.9   g.75015162G>A
NG_008431.2   g.5280G>A
NM_000499.4   c.277C>T
NM_001319216.1   c.277C>T
NM_001319217.1   c.277C>T
NP_000490.1   p.Arg93Trp
NP_001306145.1   p.Arg93Trp
NP_001306146.1   p.Arg93Trp
XP_005254242.1   p.Arg93Trp
XP_005254243.1   p.Arg93Trp
XP_005254244.1   p.Arg93Trp
XP_005254245.1   p.Arg93Trp
XP_016877442.1   p.Arg93Trp
rs2278970

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000677.2   g.74720640G>A
CM000677.2   g.74720640G>C
NC_000015.10   g.74720640G>A
NC_000015.10   g.74720640G>C
NC_000015.9   g.75012981G>A
NC_000015.9   g.75012981G>C
NG_008431.2   g.3099G>A
NG_008431.2   g.3099G>C
NM_000499.4   c.1388C>G
NM_000499.4   c.1388C>T
NM_001319216.1   c.1301C>G
NM_001319216.1   c.1301C>T
NM_001319217.1   c.1388C>G
NM_001319217.1   c.1388C>T
NP_000490.1   p.Ala463Gly
NP_000490.1   p.Ala463Val
NP_001306145.1   p.Ala434Gly
NP_001306145.1   p.Ala434Val
NP_001306146.1   p.Ala463Gly
NP_001306146.1   p.Ala463Val
XP_005254242.1   p.Ala463Gly
XP_005254242.1   p.Ala463Val
XP_005254243.1   p.Ala463Gly
XP_005254243.1   p.Ala463Val
XP_005254244.1   p.Ala435Gly
XP_005254244.1   p.Ala435Val
XP_005254245.1   p.Ala434Gly
XP_005254245.1   p.Ala434Val
XP_005254246.1   p.Ala202Gly
XP_005254246.1   p.Ala202Val
XP_016877442.1   p.Ala435Gly
XP_016877442.1   p.Ala435Val
rs2856833

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000677.2   g.74721222G>A
CM000677.2   g.74721222G>T
NC_000015.10   g.74721222G>A
NC_000015.10   g.74721222G>T
NC_000015.9   g.75013563G>A
NC_000015.9   g.75013563G>T
NG_008431.2   g.3681G>A
NG_008431.2   g.3681G>T
NM_000499.4   c.1143C>A
NM_000499.4   c.1143C>T
NM_001319216.1   c.1143C>A
NM_001319216.1   c.1143C>T
NM_001319217.1   c.1143C>A
NM_001319217.1   c.1143C>T
NP_000490.1   p.Phe381=
NP_000490.1   p.Phe381Leu
NP_001306145.1   p.Phe381=
NP_001306145.1   p.Phe381Leu
NP_001306146.1   p.Phe381=
NP_001306146.1   p.Phe381Leu
XP_005254242.1   p.Phe381=
XP_005254242.1   p.Phe381Leu
XP_005254243.1   p.Phe381=
XP_005254243.1   p.Phe381Leu
XP_005254244.1   p.Phe353=
XP_005254244.1   p.Phe353Leu
XP_005254245.1   p.Phe381=
XP_005254245.1   p.Phe381Leu
XP_005254246.1   p.Phe120=
XP_005254246.1   p.Phe120Leu
XP_016877442.1   p.Phe353=
XP_016877442.1   p.Phe353Leu
rs3826042

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.74726564C>T
NC_000015.10   g.74726564C>T
NC_000015.9   g.75018905C>T
NG_008431.2   g.9023C>T
NG_055242.1   g.2870C>T
NM_000499.4   c.-1150G>A
NM_001319216.1   c.-1153G>A
NM_001319217.1   c.-1153G>A
rs4646422

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000677.2   g.74722964C>T
NC_000015.10   g.74722964C>T
NC_000015.9   g.75015305C>T
NG_008431.2   g.5423C>T
NM_000499.4   c.134G>A
NM_001319216.1   c.134G>A
NM_001319217.1   c.134G>A
NP_000490.1   p.Gly45Asp
NP_001306145.1   p.Gly45Asp
NP_001306146.1   p.Gly45Asp
XP_005254242.1   p.Gly45Asp
XP_005254243.1   p.Gly45Asp
XP_005254244.1   p.Gly45Asp
XP_005254245.1   p.Gly45Asp
XP_016877442.1   p.Gly45Asp
rs4646903

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.74719300A>G
NC_000015.10   g.74719300A>G
NC_000015.9   g.75011641A>G
NC_000015.9   g.75011641A>T
NG_008431.2   g.1759A>G
NG_008431.2   g.1759A>T
NM_000499.4   c.*1189T>A
NM_000499.4   c.*1189T>C
NM_000499.4   c.*947+242T>C
NM_001319216.1   c.*1189T>A
NM_001319216.1   c.*1189T>C
NM_001319216.1   c.*947+242T>C
NM_001319217.1   c.*1189T>A
NM_001319217.1   c.*1189T>C
NM_001319217.1   c.*947+242T>C
rs4987133

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.74721686A>G
NC_000015.10   g.74721686A>G
NC_000015.9   g.75014027A>G
NG_008431.2   g.4145A>G
NM_000499.4   c.857T>C
NM_001319216.1   c.857T>C
NM_001319217.1   c.857T>C
NP_000490.1   p.Ile286Thr
NP_001306145.1   p.Ile286Thr
NP_001306146.1   p.Ile286Thr
XP_005254242.1   p.Ile286Thr
XP_005254243.1   p.Ile286Thr
XP_005254244.1   p.Ile258Thr
XP_005254245.1   p.Ile286Thr
XP_005254246.1   p.Ile25Thr
XP_016877442.1   p.Ile258Thr

Protein Summary

Protein general information

P04798

Name: Cytochrome P450 1A1 (EC 1.14.14.1) (CYPIA1) (Cytochrome P450 form 6) (Cytochrome P450 C) (Cytochrome P450 P1)

Length: 512 Mass: 58,165

Tissue specificity: Lung, lymphocytes and placenta.

Sequence

MLFPISMSATEFLLASVIFCLVFWVIRASRPQVPKGLKNPPGPWGWPLIGHMLTLGKNPHLALSRMSQQYGDVLQ
IRIGSTPVVVLSGLDTIRQALVRQGDDFKGRPDLYTFTLISNGQSMSFSPDSGPVWAARRRLAQNGLKSFSIASD
PASSTSCYLEEHVSKEAEVLISTLQELMAGPGHFNPYRYVVVSVTNVICAICFGRRYDHNHQELLSLVNLNNNFG
EVVGSGNPADFIPILRYLPNPSLNAFKDLNEKFYSFMQKMVKEHYKTFEKGHIRDITDSLIEHCQEKQLDENANV
QLSDEKIINIVLDLFGAGFDTVTTAISWSLMYLVMNPRVQRKIQEELDTVIGRSRRPRLSDRSHLPYMEAFILET
FRHSSFVPFTIPHSTTRDTSLKGFYIPKGRCVFVNQWQINHDQKLWVNPSEFLPERFLTPDGAIDKVLSEKVIIF
GMGKRKCIGETIARWEVFLFLAILLQRVEFSVPLGVKVDMTPIYGLTMKHACCEHFQMQLRS

Structural information

Interpro:	IPR001128 IPR017972 IPR002401 IPR008066
Prosite:	PS00086
Pfam:	PF00067
PDB:	4I8V
PDBsum:	4I8V
STRING:	ENSP00000369050;

Other Databases

GeneCards: CYP1A1; Malacards: CYP1A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IEA	biological_process
GO:0004497	monooxygenase activity	IBA	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0005506	iron ion binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006778	porphyrin-containing comp ound metabolic process	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008283	cell proliferation	IEA	biological_process
GO:0008395	steroid hydroxylase activ ity	IEA	molecular_function
GO:0009308	amine metabolic process	IEA	biological_process
GO:0009611	response to wounding	IEA	biological_process
GO:0009615	response to virus	IEA	biological_process
GO:0009624	response to nematode	IEA	biological_process
GO:0009635	response to herbicide	IEA	biological_process
GO:0009692	ethylene metabolic proces s	TAS	biological_process
GO:0009792	embryo development ending in birth or egg hatching	IEA	biological_process
GO:0009804	coumarin metabolic proces s	IEA	biological_process
GO:0009812	flavonoid metabolic proce ss	IEA	biological_process
GO:0010041	response to iron(III) ion	IEA	biological_process
GO:0016491	oxidoreductase activity	IDA	molecular_function
GO:0016679	oxidoreductase activity, acting on diphenols and r elated substances as dono rs	IEA	molecular_function
GO:0016711	flavonoid 3'-monooxygenas e activity	IEA	molecular_function
GO:0017143	insecticide metabolic pro cess	IEA	biological_process
GO:0017144	drug metabolic process	IDA	biological_process
GO:0019341	dibenzo-p-dioxin cataboli c process	IEA	biological_process
GO:0019373	epoxygenase P450 pathway	TAS	biological_process
GO:0019825	oxygen binding	TAS	molecular_function
GO:0019899	enzyme binding	IEA	molecular_function
GO:0020037	heme binding	IEA	molecular_function
GO:0032094	response to food	IEA	biological_process
GO:0032451	demethylase activity	IEA	molecular_function
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0033189	response to vitamin A	IEA	biological_process
GO:0035902	response to immobilizatio n stress	IEA	biological_process
GO:0042359	vitamin D metabolic proce ss	IC	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042904	9-cis-retinoic acid biosy nthetic process	IEA	biological_process
GO:0043010	camera-type eye developme nt	IEA	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0046677	response to antibiotic	IEA	biological_process
GO:0046685	response to arsenic-conta ining substance	IEA	biological_process
GO:0048565	digestive tract developme nt	IEA	biological_process
GO:0050665	hydrogen peroxide biosynt hetic process	IEA	biological_process
GO:0055093	response to hyperoxia	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0060137	maternal process involved in parturition	IEA	biological_process
GO:0070330	aromatase activity	IEA	molecular_function
GO:0070365	hepatocyte differentiatio n	IEA	biological_process
GO:0070576	vitamin D 24-hydroxylase activity	IDA	molecular_function
GO:0070988	demethylation	IEA	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IDA	biological_process
GO:0097267	omega-hydroxylase P450 pa thway	TAS	biological_process
GO:1900087	positive regulation of G1 /S transition of mitotic cell cycle	IEA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001889	liver development	IEA	biological_process
GO:0003824	catalytic activity	IEA	molecular_function
GO:0004497	monooxygenase activity	IEA	molecular_function
GO:0004497	monooxygenase activity	IBA	molecular_function
GO:0004497	monooxygenase activity	IEA	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0005506	iron ion binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006778	porphyrin-containing comp ound metabolic process	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008283	cell proliferation	IEA	biological_process
GO:0008395	steroid hydroxylase activ ity	IEA	molecular_function
GO:0009308	amine metabolic process	IEA	biological_process
GO:0009404	toxin metabolic process	IEA	biological_process
GO:0009611	response to wounding	IEA	biological_process
GO:0009615	response to virus	IEA	biological_process
GO:0009624	response to nematode	IEA	biological_process
GO:0009635	response to herbicide	IEA	biological_process
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0009692	ethylene metabolic proces s	TAS	biological_process
GO:0009792	embryo development ending in birth or egg hatching	IEA	biological_process
GO:0009804	coumarin metabolic proces s	IEA	biological_process
GO:0009812	flavonoid metabolic proce ss	IEA	biological_process
GO:0010033	response to organic subst ance	IEA	biological_process
GO:0010041	response to iron(III) ion	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016491	oxidoreductase activity	IDA	molecular_function
GO:0016679	oxidoreductase activity, acting on diphenols and r elated substances as dono rs	IEA	molecular_function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n	IEA	molecular_function
GO:0016711	flavonoid 3'-monooxygenas e activity	IEA	molecular_function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, reduced flavin or flav oprotein as one donor, an d incorporation of one at om of oxygen	IEA	molecular_function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, reduced flavin or flav oprotein as one donor, an d incorporation of one at om of oxygen	IEA	molecular_function
GO:0017143	insecticide metabolic pro cess	IEA	biological_process
GO:0017144	drug metabolic process	IDA	biological_process
GO:0018894	dibenzo-p-dioxin metaboli c process	IEA	biological_process
GO:0019341	dibenzo-p-dioxin cataboli c process	IEA	biological_process
GO:0019373	epoxygenase P450 pathway	TAS	biological_process
GO:0019825	oxygen binding	TAS	molecular_function
GO:0019825	oxygen binding	TAS	molecular_function
GO:0019899	enzyme binding	IEA	molecular_function
GO:0020037	heme binding	IEA	molecular_function
GO:0031090	organelle membrane	IEA	cellular_component
GO:0032094	response to food	IEA	biological_process
GO:0032451	demethylase activity	IEA	molecular_function
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0032502	developmental process	IEA	biological_process
GO:0033189	response to vitamin A	IEA	biological_process
GO:0035902	response to immobilizatio n stress	IEA	biological_process
GO:0042359	vitamin D metabolic proce ss	IC	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042904	9-cis-retinoic acid biosy nthetic process	IEA	biological_process
GO:0043010	camera-type eye developme nt	IEA	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0046483	heterocycle metabolic pro cess	IEA	biological_process
GO:0046677	response to antibiotic	IEA	biological_process
GO:0046685	response to arsenic-conta ining substance	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048565	digestive tract developme nt	IEA	biological_process
GO:0050665	hydrogen peroxide biosynt hetic process	IEA	biological_process
GO:0055093	response to hyperoxia	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0060137	maternal process involved in parturition	IEA	biological_process
GO:0070330	aromatase activity	IEA	molecular_function
GO:0070365	hepatocyte differentiatio n	IEA	biological_process
GO:0070576	vitamin D 24-hydroxylase activity	IDA	molecular_function
GO:0070988	demethylation	IEA	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IDA	biological_process
GO:0097267	omega-hydroxylase P450 pa thway	TAS	biological_process
GO:1900087	positive regulation of G1 /S transition of mitotic cell cycle	IEA	biological_process
GO:0004497	monooxygenase activity	IBA	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0009692	ethylene metabolic proces s	TAS	biological_process
GO:0016491	oxidoreductase activity	IDA	molecular_function
GO:0017144	drug metabolic process	IDA	biological_process
GO:0019373	epoxygenase P450 pathway	TAS	biological_process
GO:0019825	oxygen binding	TAS	molecular_function
GO:0019825	oxygen binding	TAS	molecular_function
GO:0042359	vitamin D metabolic proce ss	IC	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0070576	vitamin D 24-hydroxylase activity	IDA	molecular_function
GO:0071407	cellular response to orga nic cyclic compound	IDA	biological_process
GO:0097267	omega-hydroxylase P450 pa thway	TAS	biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis
hsa05204  Chemical carcinogenesis
hsa00980  Metabolism of xenobiotics by cytochrome P450
hsa00830  Retinol metabolism
hsa00380  Tryptophan metabolism

Diseases

Associated diseases	References
Adenomyosis	PMID: 16527884
Alzheimer's disease	PMID: 15591802
Anemia	PMID: 12934333
Ankylosing spondylitis	PMID: 12880680
Arthritis	PMID: 12590982
Asthma	PMID: 12018173
Autism	PMID: 19598235
Azoospermia	PMID: 15474075
Behcet's disease	PMID: 15088300
Cancer	PMID: 18409147
Cardiovascular disease	PMID: 12704594
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Cleft lip	PMID: 18449058
Crohn's disease	PMID: 12631667
Diabetes	PMID: 12732844
Dysmenorrhea	PMID: 11172643
Encephalopathy	PMID: 17022435
Endometriosis	PMID: 11393538
Endometriosis	PMID: 11393538
Eye diseases	PMID: 18447907
Genital diseases	PMID: 19799358
Graves disease	PMID: 19903800
Idiopathic male infertility	PMID: 24488272
Macular degeneration	PMID: 15774926
Male infertility	PMID: 17559847
Male infertility	PMID: 18774560
Mental development	PMID: 19860743
Non-obstructive azoospermia (NOA)	PMID: 17651397
Oligozoospermia	PMID: 18980759
Osteoporosis	PMID: 18779756
Ovarian endometriosis	PMID: 18849443
Ovarian endometriosis	PMID: 18849443
Parkinson's disease	PMID: 11798822
Polycystic ovary syndrome (PCOS)	PMID: 18339256
Polycystic ovaries (PCO)	PMID: 15333250
Preeclampsia	PMID: 15734083
Premature birth	PMID: 18706519
Preterm delivery	PMID: 11520401
Psoriasis	PMID: 12713578
Recurrent miscarriage	PMID: 15299091
Ovarian endometriosis	INFBASE18849443
Endometriosis	INFBASE10764452
Severe oligozoospermia	PMID: 15474075
Spermatogenetic defects	PMID: 21429951
Systemic lupus erythematosus	PMID: 10599336
Uterine fibroids	PMID: 16835796

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26101050	Endometrio sis	AhR (Arg554Lys), ARNT(Val189Val), AhRR (Pro185Ala)				AhR AhRR ARNT	Show abstract
22017422	Endometrio sis		Taiwane se Han			CYP1A1 CYP1B1 GSTM1 GSTT1 GSTP1 AhR ARNT and AhRR	Show abstract
17513317	Endometrio sis	AhRR codon 185, GSTT1 polymorphisms		572 (316 women with advanced s tage endometrio sis, 256 contro l women without endometriosis)		GSTT1 AhRR	Show abstract
16084889	Endometrio sis	AhRR (C/G + G/G genotypes at codon 185), AhR codon 554 or ARNT codon 189 polymorphisms	Japanes e	138 women with or without endo metriosis		AhRR	Show abstract
12903034	Endometrio sis	CYP1A1 (exon 7 A4889G locus)		156 (76 patient s with endometr iosis, 80 healt hy controls)			Show abstract
12620480	Endometrio sis	CYP19 VNTR (TTTA)(10) allele, CYP1A1 m1 polymorphism, GSTM1 null deletion, GSTT1 null deletion		621 (275 women with sporadic e ndometriosis, 3 46 fertile endo metriosis-free women)	Female infertility	CYP1A1 CYP19 GSTM1 and GSTT1	Show abstract
11730751	Endometrio sis	CYP1A1 m1 polymorphism, GSTM1 null deletion, GSTT1 null deletion				GSTT1 CYP1A1 GSTM1	Show abstract
11675474	Endometrio sis	GSTM1, GSTT1, CYP1A1	French and Sla vic pop ulation s	276 (148 women each with endom etriosis (spora dic cases, n = 91; familial ca ses, n = 57), a population con trol of 95 male blood donors, and a control g roup of 53 wome n with a normal pelvis at hyst erectomy)		GSTM1 GSTT1 CYP1A1	Show abstract
10764452	Endometrio sis	CYP1A1, CYP1A2, CYP1B1		43 (33 eutopic endometrial tis sue samples, 10 endometriotic tissue samples)	Female infertility	CYP1A1 CYP1A2 CYP1B1	Show abstract
18849443	Endometrio sis (ovari an)					CYP1A1 CYP1B1 gamma-syn ER alpha ER beta BCL-2	Show abstract
27525656	Endometrio sis	CYP1A1 (MspI and I462V)	Asians, Caucas ians	4423 (1555 case s, 2868 control s)			Show abstract