CYP4F22

Protein identityUniProt · HPA

UniProt accession

Q6NT55

Gene

CYP4F22

Ensembl

ENSG00000171954

Chromosome

19

Canonical length

531 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

531 residues, UniProt reviewed canonical sequence.

>Q6NT55|CYP4F22
     1  MLPITDRLLH LLGLEKTAFR IYAVSTLLLF LLFFLFRLLL RFLRLCRSFY ITCRRLRCFP
    61  QPPRRNWLLG HLGMYLPNEA GLQDEKKVLD NMHHVLLVWM GPVLPLLVLV HPDYIKPLLG
   121  ASAAIAPKDD LFYGFLKPWL GDGLLLSKGD KWSRHRRLLT PAFHFDILKP YMKIFNQSAD
   181  IMHAKWRHLA EGSAVSLDMF EHISLMTLDS LQKCVFSYNS NCQEKMSDYI SAIIELSALS
   241  VRRQYRLHHY LDFIYYRSAD GRRFRQACDM VHHFTTEVIQ ERRRALRQQG AEAWLKAKQG
   301  KTLDFIDVLL LARDEDGKEL SDEDIRAEAD TFMFEGHDTT SSGISWMLFN LAKYPEYQEK
   361  CREEIQEVMK GRELEELEWD DLTQLPFTTM CIKESLRQYP PVTLVSRQCT EDIKLPDGRI
   421  IPKGIICLVS IYGTHHNPTV WPDSKVYNPY RFDPDNPQQR SPLAYVPFSA GPRNCIGQSF
   481  AMAELRVVVA LTLLRFRLSV DRTRKVRRKP ELILRTENGL WLKVEPLPPR A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP4F22 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)

0.24

Highest tissue expression

56 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP4F22.

Disease | AllUniProt

Conditions CYP4F22 is implicated in, by any mechanism.

• Ichthyosis, congenital, autosomal recessive 5 (ARCI5) MIM:604777

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 313 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive congenital ichthyosis 5
• Lamellar ichthyosis
• CYP4F22-related disorder

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)

0.78

gnomAD pLI

0

gnomAD missense Z

0.4

DepMap mean gene effect

-0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ceramide biosynthetic process
• icosanoid metabolic process

Molecular functions

• heme binding
• iron ion binding
• monooxygenase activity
• oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen

Cellular components

• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Cytochrome P450
• Cytochrome P450, E-class, group I
• Cytochrome P450, conserved site
• Cytochrome P450 superfamily
• Cytochrome P450 Monooxygenases
• Cytochrome P450

KeywordsUniProt

• Endoplasmic reticulum
• Heme
• Ichthyosis
• Iron
• Lipid metabolism
• Membrane
• Metal-binding
• Microsome
• Monooxygenase
• Oxidoreductase
• Transmembrane
• Transmembrane helix