CYP27A1

Protein identityUniProt · HPA

UniProt accession

Q02318

Gene

CYP27A1

Ensembl

ENSG00000135929

Chromosome

2

Canonical length

531 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

531 residues, UniProt reviewed canonical sequence.

>Q02318|CYP27A1
     1  MAALGCARLR WALRGAGRGL CPHGARAKAA IPAALPSDKA TGAPGAGPGV RRRQRSLEEI
    61  PRLGQLRFFF QLFVQGYALQ LHQLQVLYKA KYGPMWMSYL GPQMHVNLAS APLLEQVMRQ
   121  EGKYPVRNDM ELWKEHRDQH DLTYGPFTTE GHHWYQLRQA LNQRLLKPAE AALYTDAFNE
   181  VIDDFMTRLD QLRAESASGN QVSDMAQLFY YFALEAICYI LFEKRIGCLQ RSIPEDTVTF
   241  VRSIGLMFQN SLYATFLPKW TRPVLPFWKR YLDGWNAIFS FGKKLIDEKL EDMEAQLQAA
   301  GPDGIQVSGY LHFLLASGQL SPREAMGSLP ELLMAGVDTT SNTLTWALYH LSKDPEIQEA
   361  LHEEVVGVVP AGQVPQHKDF AHMPLLKAVL KETLRLYPVV PTNSRIIEKE IEVDGFLFPK
   421  NTQFVFCHYV VSRDPTAFSE PESFQPHRWL RNSQPATPRI QHPFGSVPFG YGVRACLGRR
   481  IAELEMQLLL ARLIQKYKVV LAPETGELKS VARIVLVPNK KVGLQFLQRQ C

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP27A1 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

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

575 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP27A1.

Disease | AllUniProt

Conditions CYP27A1 is implicated in, by any mechanism.

• Cerebrotendinous xanthomatosis (CTX) MIM:213700

Disease | GeneticClinVar

216 pathogenic / likely-pathogenic of 1,249 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cholestanol storage disease
• CYP27A1-related disorder
• Cardiovascular phenotype
• Intellectual disability
• Uveal melanoma

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)

1.38

gnomAD pLI

0

gnomAD missense Z

-0.31

DepMap mean gene effect

0

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

• bile acid biosynthetic process
• calcitriol biosynthetic process from calciol
• cholesterol catabolic process
• cholesterol metabolic process
• sterol metabolic process

Molecular functions

• heme binding
• iron ion binding
• steroid hydroxylase activity
• vitamin D3 25-hydroxylase activity
• cholestanetetraol 26-dehydrogenase activity
• cholesterol 26-hydroxylase activity

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Cytochrome P450
• Cytochrome P450, E-class, group I
• Cytochrome P450, conserved site
• Cytochrome P450 superfamily
• Cytochrome P450, families 11 and 27
• Cytochrome P450

KeywordsUniProt

• Acetylation
• Cataract
• Cholesterol metabolism
• Heme
• Iron
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Monooxygenase
• Oxidoreductase
• Steroid biosynthesis
• Steroid metabolism
• Sterol metabolism
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of CYP27A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HSP70