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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 enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
CYP26C1 (Cytochrome P450 Family 26 Subfamily C Member 1) is a Protein Coding gene. Diseases associated with CYP26C1 include Focal Facial Dermal Dysplasia 4 and Focal Facial Dermal Dysplasia. Among its related pathways are Cytochrome P450 - arranged by substrate type and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP26B1.
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane. CYPs have oxygenase activity.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH10J093062 | Promoter | 0.6 | Ensembl | 600.7 | +1.5 | 1503 | 0.6 | CTCF ZNF143 RAD21 ZBTB33 EZH2 | ENSG00000226425 CYP26C1 ENSG00000285846 CYP26A1 | |
GH10J093061 | Promoter | 0.4 | Ensembl | 600.7 | +0.9 | 903 | 0.2 | EZH2 | ENSG00000226425 CYP26C1 ENSG00000285846 CYP26A1 | |
GH10J092891 | Enhancer | 1.5 | UCNEbase Ensembl ENCODE | 10.7 | -167.9 | -167898 | 5.4 | CREB1 GATAD2A REST ZNF629 TFE3 RCOR2 ZHX2 JUND FOXA1 PRDM1 | CYP26C1 ENSG00000226425 ENSG00000225118 RF00017-740 EXOC6 | |
GH10J093287 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 10.8 | +227.8 | 227780 | 2.5 | GATAD2A CTCF TEAD4 TFE3 TARDBP FOXA1 ZNF24 REST RAD21 IRF2 | CYP26C1 ENSG00000226425 PDE6C RPL17P34 lnc-RBP4-4 MYOF CYP26A1 | |
GH10J092970 | Enhancer | 1.1 | Ensembl ENCODE | 11.4 | -88.4 | -88397 | 3.6 | GATAD2A LEF1 IKZF1 NFKBIZ ZNF7 JUND PRDM1 MTA2 PKNOX1 MTA1 | CYP26C1 ENSG00000226425 XRCC6P1 MG828730-011 RF00017-740 EXOC6 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000249 | C-22 sterol desaturase activity | IBA | -- |
GO:0001972 | retinoic acid binding | IDA | 14532297 |
GO:0004497 | monooxygenase activity | IBA | 21873635 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0008401 | retinoic acid 4-hydroxylase activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
2 | Metabolism |
.40
|
|
3 | Signaling by Retinoic Acid | ||
4 | Drug metabolism - cytochrome P450 | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006696 | ergosterol biosynthetic process | IBA | -- |
GO:0006766 | vitamin metabolic process | TAS | -- |
GO:0007417 | central nervous system development | IEA,ISS | -- |
GO:0009952 | anterior/posterior pattern specification | IEA,ISS | -- |
GO:0014032 | neural crest cell development | IEA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Alitretinoin | Approved, Investigational | Pharma | Agonist, Target | 17 | ||
Tretinoin | Approved, Investigational | Nutra | Agonist, Full agonist, Antagonist, Target | 273 | ||
Anastrozole | Approved, Investigational | Pharma | Aromatase inhibitor, Potent aromatase (CYP19) inhibitor, Aromatase Inhibitors, Hormone therapy | 337 | ||
Exemestane | Approved, Investigational | Pharma | Steroidal aromatase inhibitor,selective and irreversible, Steroidal aromatase (CYP19) inhibitor | 258 | ||
Ketoconazole | Approved, Investigational | Pharma | Pore Blocker | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor | 194 |
Compound | Action | Cas Number |
---|---|---|
Anastrozole | Potent aromatase (CYP19) inhibitor | 120511-73-1 |
Exemestane | Steroidal aromatase (CYP19) inhibitor | 107868-30-4 |
Ketoconazole | Cytochrome P450c17 inhibitor | 65277-42-1 |
TMS | Cytochrome P450 1B1 inhibitor | 24144-92-1 |
YM 511 | Potent aromatase (CYP19) inhibitor | 148869-05-0 |
Compound | Action | Cas Number |
---|---|---|
TMS | 24144-92-1 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||
SP3: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYP26C1 31 |
|
OneToOne | |
LOC100610581 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | CYP26C1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cyp26c1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyp26c1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CYP26C1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CYP26C1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CYP26C1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100489980 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1946 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cyp26c1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp313a3 31 |
|
ManyToMany | |
Cyp313a5 31 |
|
ManyToMany | |||
Cyp313a2 31 |
|
ManyToMany | |||
Cyp313a4 31 |
|
ManyToMany | |||
Cyp313b1 31 |
|
ManyToMany | |||
Cyp313a1 31 |
|
ManyToMany | |||
Cyp318a1 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ERG11 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CYP718 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5303 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708687 | Benign: not provided | 93,065,979(+) | C/T | SYNONYMOUS_VARIANT | |
717978 | Benign: not provided | 93,061,447(+) | A/T | MISSENSE_VARIANT | |
722068 | Likely Benign: not provided | 93,061,329(+) | G/T | SYNONYMOUS_VARIANT | |
725155 | Likely Benign: not provided | 93,061,345(+) | C/T | SYNONYMOUS_VARIANT | |
731187 | Benign: not provided | 93,062,823(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
focal facial dermal dysplasia 4 |
|
|
focal facial dermal dysplasia |
|
|
barber-say syndrome |
|
|
optic nerve hypoplasia, bilateral |
|
|
microphthalmia |
|
|