CYP17A1

Protein identityUniProt · HPA

UniProt accession

P05093

Gene

CYP17A1

Ensembl

ENSG00000148795

Chromosome

10

Canonical length

508 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Vesicles

Secretome location

Intracellular and membrane

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 protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

508 residues, UniProt reviewed canonical sequence.

>P05093|CYP17A1
     1  MWELVALLLL TLAYLFWPKR RCPGAKYPKS LLSLPLVGSL PFLPRHGHMH NNFFKLQKKY
    61  GPIYSVRMGT KTTVIVGHHQ LAKEVLIKKG KDFSGRPQMA TLDIASNNRK GIAFADSGAH
   121  WQLHRRLAMA TFALFKDGDQ KLEKIICQEI STLCDMLATH NGQSIDISFP VFVAVTNVIS
   181  LICFNTSYKN GDPELNVIQN YNEGIIDNLS KDSLVDLVPW LKIFPNKTLE KLKSHVKIRN
   241  DLLNKILENY KEKFRSDSIT NMLDTLMQAK MNSDNGNAGP DQDSELLSDN HILTTIGDIF
   301  GAGVETTTSV VKWTLAFLLH NPQVKKKLYE EIDQNVGFSR TPTISDRNRL LLLEATIREV
   361  LRLRPVAPML IPHKANVDSS IGEFAVDKGT EVIINLWALH HNEKEWHQPD QFMPERFLNP
   421  AGTQLISPSV SYLPFGAGPR SCIGEILARQ ELFLIMAWLL QRFDLEVPDD GQLPSLEGIP
   481  KVVFLIDSFK VKIKVRQAWR EAQAEGST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP17A1 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)

0.24

Highest tissue expression

8,353 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP17A1.

Disease | AllUniProt

Conditions CYP17A1 is implicated in, by any mechanism.

• Adrenal hyperplasia 5 (AH5) MIM:202110

Disease | GeneticClinVar

158 pathogenic / likely-pathogenic of 610 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deficiency of steroid 17-alpha-monooxygenase
• 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
• Congenital adrenal hyperplasia
• 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
• CYP17A1-related disorder

Disease | AutoantibodyPubMed

Conditions in which antibodies against CYP17A1 are reported. Each links to that disease's full target list.

• Addison Disease 3
• Polyendocrinopathies, Autoimmune 3

ReferencesPubMed · IEDB

Publications for CYP17A1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.82

gnomAD pLI

0

gnomAD missense Z

1.24

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• androgen biosynthetic process
• cortisol biosynthetic process
• glucocorticoid biosynthetic process
• hormone biosynthetic process
• progesterone metabolic process
• sex differentiation
• steroid biosynthetic process
• steroid metabolic process

Molecular functions

• heme binding
• iron ion binding
• lyase activity
• oxygen binding
• steroid 17-alpha-monooxygenase activity

Cellular components

• axon
• endoplasmic reticulum
• endoplasmic reticulum membrane
• neuronal cell body

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• Congenital adrenal hyperplasia
• Endoplasmic reticulum
• Heme
• Iron
• Lipid metabolism
• Lyase
• Membrane
• Metal-binding
• Microsome
• Monooxygenase
• Oxidoreductase
• Phosphoprotein
• Steroidogenesis