CYP26C1

Protein identityUniProt · HPA

UniProt accession

Q6V0L0

Gene

CYP26C1

Ensembl

ENSG00000187553

Chromosome

10

Canonical length

522 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

522 residues, UniProt reviewed canonical sequence.

>Q6V0L0|CYP26C1
     1  MFPWGLSCLS VLGAAGTALL CAGLLLSLAQ HLWTLRWMLS RDRASTLPLP KGSMGWPFFG
    61  ETLHWLVQGS RFHSSRRERY GTVFKTHLLG RPVIRVSGAE NVRTILLGEH RLVRSQWPQS
   121  AHILLGSHTL LGAVGEPHRR RRKVLARVFS RAALERYVPR LQGALRHEVR SWCAAGGPVS
   181  VYDASKALTF RMAARILLGL RLDEAQCATL ARTFEQLVEN LFSLPLDVPF SGLRKGIRAR
   241  DQLHRHLEGA ISEKLHEDKA AEPGDALDLI IHSARELGHE PSMQELKESA VELLFAAFFT
   301  TASASTSLVL LLLQHPAAIA KIREELVAQG LGRACGCAPG AAGGSEGPPP DCGCEPDLSL
   361  AALGRLRYVD CVVKEVLRLL PPVSGGYRTA LRTFELDGYQ IPKGWSVMYS IRDTHETAAV
   421  YRSPPEGFDP ERFGAAREDS RGASSRFHYI PFGGGARSCL GQELAQAVLQ LLAVELVRTA
   481  RWELATPAFP AMQTVPIVHP VDGLRLFFHP LTPSVAGNGL CL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP26C1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

0.1 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP26C1.

Disease | AllUniProt

Conditions CYP26C1 is implicated in, by any mechanism.

• Focal facial dermal dysplasia 4 (FFDD4) MIM:614974

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 123 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Focal facial dermal dysplasia type IV

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.86

gnomAD pLI

0

gnomAD missense Z

0.06

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anterior/posterior pattern specification
• central nervous system development
• negative regulation of retinoic acid receptor signaling pathway
• neural crest cell development
• organelle fusion
• retinoic acid catabolic process
• vitamin metabolic process

Molecular functions

• heme binding
• iron ion binding
• monooxygenase activity
• 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
• retinoic acid 4-hydroxylase activity
• retinoic acid binding

Cellular components

• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Cytochrome P450
• Cytochrome P450, E-class, group IV
• Cytochrome P450, conserved site
• Cytochrome P450 superfamily
• Cytochrome P450

KeywordsUniProt

• Ectodermal dysplasia
• Heme
• Iron
• Lipid metabolism
• Membrane
• Metal-binding
• Monooxygenase
• Oxidoreductase
• Transmembrane
• Transmembrane helix