Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1592
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CYP26A1   Gene   UCSC   Ensembl
Aliases CP26, CYP26, P450RAI, P450RAI1
Gene name cytochrome P450 family 26 subfamily A member 1
Alternate names cytochrome P450 26A1, P450, retinoic acid-inactivating, 1, cytochrome P450 retinoic acid-inactivating 1, cytochrome P450, family 26, subfamily A, polypeptide 1, cytochrome P450, subfamily XXVIA, polypeptide 1, cytochrome P450RAI, hP450RAI, retinoic acid 4-hydrox,
Gene location 10q23.33 (93073474: 93077883)     Exons: 8     NC_000010.11
Gene summary(Entrez) This gene 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 endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
OMIM 602239

Protein Summary

Protein general information O43174  

Name: Cytochrome P450 26A1 (EC 1.14.13. ) (Cytochrome P450 retinoic acid inactivating 1) (Cytochrome P450RAI) (hP450RAI) (Retinoic acid 4 hydroxylase) (Retinoic acid metabolizing cytochrome)

Length: 497  Mass: 56,199

Tissue specificity: Highest levels in adult liver, heart, pituitary gland, adrenal gland, placenta and regions of the brain. {ECO

Sequence MGLPALLASALCTFVLPLLLFLAAIKLWDLYCVSGRDRSCALPLPPGTMGFPFFGETLQMVLQRRKFLQMKRRKY
GFIYKTHLFGRPTVRVMGADNVRRILLGEHRLVSVHWPASVRTILGSGCLSNLHDSSHKQRKKVIMRAFSREALE
CYVPVITEEVGSSLEQWLSCGERGLLVYPEVKRLMFRIAMRILLGCEPQLAGDGDSEQQLVEAFEEMTRNLFSLP
IDVPFSGLYRGMKARNLIHARIEQNIRAKICGLRASEAGQGCKDALQLLIEHSWERGERLDMQALKQSSTELLFG
GHETTASAATSLITYLGLYPHVLQKVREELKSKGLLCKSNQDNKLDMEILEQLKYIGCVIKETLRLNPPVPGGFR
VALKTFELNGYQIPKGWNVIYSICDTHDVAEIFTNKEEFNPDRFMLPHPEDASRFSFIPFGGGLRSCVGKEFAKI
LLKIFTVELARHCDWQLLNGPPTMKTSPTVYPVDNLPARFTHFHGEI
Structural information
Interpro:  IPR001128 IPR017972 IPR002403
Prosite:   PS00086

Pfam:  
PF00067
STRING:   ENSP00000224356;
Other Databases GeneCards:  CYP26A1;  Malacards:  CYP26A1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001972 retinoic acid binding
IDA molecular_function
GO:0005506 iron ion binding
IEA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006766 vitamin metabolic process
TAS biological_process
GO:0008152 metabolic process
TAS biological_process
GO:0008401 retinoic acid 4-hydroxyla
se activity
IDA molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
IDA molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
TAS molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0020037 heme binding
NAS molecular_function
GO:0034653 retinoic acid catabolic p
rocess
IDA biological_process
GO:0048387 negative regulation of re
tinoic acid receptor sign
aling pathway
TAS biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0001972 retinoic acid binding
IDA molecular_function
GO:0004497 monooxygenase activity
IEA molecular_function
GO:0004497 monooxygenase activity
IEA molecular_function
GO:0005506 iron ion binding
IEA molecular_function
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:0006766 vitamin metabolic process
TAS biological_process
GO:0008152 metabolic process
TAS biological_process
GO:0008401 retinoic acid 4-hydroxyla
se activity
IDA molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
IDA molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
TAS molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
TAS molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0016705 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n
IEA molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0020037 heme binding
IEA molecular_function
GO:0020037 heme binding
NAS molecular_function
GO:0031090 organelle membrane
IEA cellular_component
GO:0034653 retinoic acid catabolic p
rocess
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IEA cellular_component
GO:0046872 metal ion binding
IEA molecular_function
GO:0048387 negative regulation of re
tinoic acid receptor sign
aling pathway
TAS biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0001972 retinoic acid binding
IDA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006766 vitamin metabolic process
TAS biological_process
GO:0008152 metabolic process
TAS biological_process
GO:0008401 retinoic acid 4-hydroxyla
se activity
IDA molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
IDA molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
TAS molecular_function
GO:0008401 retinoic acid 4-hydroxyla
se activity
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0020037 heme binding
NAS molecular_function
GO:0034653 retinoic acid catabolic p
rocess
IDA biological_process
GO:0048387 negative regulation of re
tinoic acid receptor sign
aling pathway
TAS biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa00830  Retinol metabolism

Diseases

Associated diseases References
Alzheimer's disease PMID: 19141999
Endometriosis PMID: 17510236
Glaucoma PMID: 19553612
Neural tube defects PMID: 16237707
Endometriosis INFBASE17510236
Schizophrenia PMID: 19703508

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17510236 Endometrio
sis


FOXO1A
MIG6
and CYP26A1
Show abstract