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Aliases for CYP17A1 Gene

Aliases for CYP17A1 Gene

  • Cytochrome P450 Family 17 Subfamily A Member 1 2 3 5
  • Steroid 17-Alpha-Monooxygenase 2 3 4
  • Cytochrome P450, Subfamily XVII (Steroid 17-Alpha-Hydroxylase), Adrenal Hyperplasia 2 3
  • Cytochrome P450, Family 17, Subfamily A, Polypeptide 1 2 3
  • 17-Alpha-Hydroxyprogesterone Aldolase 3 4
  • Cytochrome P450 17A1 3 4
  • Cytochrome P450-C17 3 4
  • Cytochrome P450c17 3 4
  • CYPXVII 3 4
  • CYP17 3 4
  • S17AH 3 4
  • Cytochrome P450 XVIIA1 3
  • EC 1.14.14.19 4
  • EC 1.14.99.9 63
  • EC 4.1.2.30 4
  • EC 1.14.99 63
  • P450C17 3
  • CPT7 3

External Ids for CYP17A1 Gene

Previous HGNC Symbols for CYP17A1 Gene

  • CYP17

Previous GeneCards Identifiers for CYP17A1 Gene

  • GC10M103823
  • GC10M104721
  • GC10M104254
  • GC10M104580
  • GC10M098225

Summaries for CYP17A1 Gene

Entrez Gene Summary for CYP17A1 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]

GeneCards Summary for CYP17A1 Gene

CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP17A1 include 17-alpha-hydroxylase/17,20-lyase deficiency and 46,xy disorder of sex development due to isolated 17,20-lyase deficiency. Among its related pathways are Metabolism and Ovarian steroidogenesis. 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 CYP21A2.

UniProtKB/Swiss-Prot for CYP17A1 Gene

  • Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty.

Tocris Summary for CYP17A1 Gene

  • 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.

Gene Wiki entry for CYP17A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP17A1 Gene

Genomics for CYP17A1 Gene

Regulatory Elements for CYP17A1 Gene

Enhancers for CYP17A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYP17A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP17A1 Gene

Chromosome:
10
Start:
102,830,531 bp from pter
End:
102,837,533 bp from pter
Size:
7,003 bases
Orientation:
Minus strand

Genomic View for CYP17A1 Gene

Genes around CYP17A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP17A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP17A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP17A1 Gene

Proteins for CYP17A1 Gene

  • Protein details for CYP17A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05093-CP17A_HUMAN
    Recommended name:
    Steroid 17-alpha-hydroxylase/17,20 lyase
    Protein Accession:
    P05093
    Secondary Accessions:
    • Q5TZV7

    Protein attributes for CYP17A1 Gene

    Size:
    508 amino acids
    Molecular mass:
    57371 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP17A1 Gene

neXtProt entry for CYP17A1 Gene

Proteomics data for CYP17A1 Gene at MOPED

Post-translational modifications for CYP17A1 Gene

  • Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP17A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP17A1 Gene

Gene Families for CYP17A1 Gene

Protein Domains for CYP17A1 Gene

Graphical View of Domain Structure for InterPro Entry

P05093

UniProtKB/Swiss-Prot:

CP17A_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP17A1: view

Function for CYP17A1 Gene

Molecular function for CYP17A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A C(21)-steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 17-alpha-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
17-alpha-hydroxyprogesterone = androst-4-ene-3,17-dione + acetaldehyde.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated predominantly by intracellular cAMP levels.
UniProtKB/Swiss-Prot Function:
Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty.

Enzyme Numbers (IUBMB) for CYP17A1 Gene

genes like me logo Genes that share phenotypes with CYP17A1: view

Human Phenotype Ontology for CYP17A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP17A1 Gene

MGI Knock Outs for CYP17A1:

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for CYP17A1 Gene

Localization for CYP17A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP17A1 Gene

Membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP17A1 Gene COMPARTMENTS Subcellular localization image for CYP17A1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
extracellular 2
nucleus 2
cytosol 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CYP17A1: view

Pathways & Interactions for CYP17A1 Gene

genes like me logo Genes that share pathways with CYP17A1: view

UniProtKB/Swiss-Prot P05093-CP17A_HUMAN

  • Pathway: Lipid metabolism; steroid biosynthesis.

Gene Ontology (GO) - Biological Process for CYP17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006082 organic acid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA,TAS 3500022
GO:0006702 androgen biosynthetic process TAS --
GO:0006704 glucocorticoid biosynthetic process IEA,TAS --
GO:0006805 xenobiotic metabolic process TAS --
genes like me logo Genes that share ontologies with CYP17A1: view

No data available for SIGNOR curated interactions for CYP17A1 Gene

Drugs & Compounds for CYP17A1 Gene

(61) Drugs for CYP17A1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abiraterone Approved Pharma Target, inhibitor Potent CYP17 inhibitor 0
Dexamethasone Approved, Investigational Pharma Agonist, Enzyme, inhibitor 1950
Progesterone Approved Pharma Full agonist, Activator, Target, Enzyme, inhibitor Endogenous progesterone receptor agonist 511
Metoclopramide Approved, Investigational Pharma Enzyme, inhibitor Dopamine receptor antagonist 104
Ketoconazole Approved, Investigational Pharma Pore Blocker Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 174

(51) Additional Compounds for CYP17A1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17-Hydroxyprogesterone
  • 17-alpha-Hydroxyprogesterone
  • 17-Hydroxypregn-4-ene-3,20-dione
  • 17-Hydroxyprogesterone
  • 17-OH Progesterone
  • 17-OHP
68-96-2
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
11b-Hydroxyprogesterone
  • (11beta)-11-hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxyprogesterone
  • 11b-Hydroxyprogesterone
  • 11beta-hydroxypregn-4-ene-3,20-dione
600-57-7
17a,20a-Dihydroxycholesterol
  • 17alpha,20alpha-Dihydroxycholesterol
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
  • 17-Hydroxypregnenolone
  • 17-OH-pregnenolone
  • 17a-Hydroxypregnolone
  • 17alpha-Hydroxypregnanolone
387-79-1

(5) Tocris Compounds for CYP17A1 Gene

Compound Action Cas Number
Ketoconazole Cytochrome P450c17 inhibitor 65277-42-1
Liarozole dihydrochloride Blocks retinoic acid metabolism
Omeprazole H+,K+-ATPase inhibitor 73590-58-6
TMS Cytochrome P450 1B1 inhibitor 24144-92-1
YM 511 Potent aromatase (CYP19) inhibitor 148869-05-0

(2) ApexBio Compounds for CYP17A1 Gene

Compound Action Cas Number
Abiraterone Potent CYP17 inhibitor 154229-19-3
TOK-001 CYP17 inhibitor and androgen receptor (AR) antagonist 851983-85-2
genes like me logo Genes that share compounds with CYP17A1: view

Transcripts for CYP17A1 Gene

mRNA/cDNA for CYP17A1 Gene

Unigene Clusters for CYP17A1 Gene

Cytochrome P450, family 17, subfamily A, polypeptide 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYP17A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - - -
SP3: - -
SP4:
SP5: - -
SP6: - -
SP7:

Relevant External Links for CYP17A1 Gene

GeneLoc Exon Structure for
CYP17A1
ECgene alternative splicing isoforms for
CYP17A1

Expression for CYP17A1 Gene

mRNA expression in normal human tissues for CYP17A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP17A1 Gene

This gene is overexpressed in Adrenal Gland (x52.1).

Protein differential expression in normal tissues from HIPED for CYP17A1 Gene

This gene is overexpressed in Fetal testis (42.6) and Adrenal (19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP17A1 Gene



SOURCE GeneReport for Unigene cluster for CYP17A1 Gene Hs.438016

genes like me logo Genes that share expression patterns with CYP17A1: view

Protein tissue co-expression partners for CYP17A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CYP17A1 Gene

Orthologs for CYP17A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP17A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYP17A1 35
  • 80.12 (n)
  • 71.06 (a)
CYP17A1 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP17A1 35
  • 83.99 (n)
  • 79.13 (a)
CYP17A1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp17a1 35
  • 74.82 (n)
  • 66.86 (a)
Cyp17a1 16
Cyp17a1 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYP17A1 35
  • 99.41 (n)
  • 99.61 (a)
CYP17A1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp17a1 35
  • 76.2 (n)
  • 68.44 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP17A1 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 26 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CYP17A1 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP17A1 36
  • 48 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.725 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8196 35
zebrafish
(Danio rerio)
Actinopterygii cyp17a1 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta spo 36
  • 23 (a)
ManyToMany
spok 36
  • 23 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP706A3 35
  • 42.66 (n)
  • 29.6 (a)
rice
(Oryza sativa)
Liliopsida Os01g0700500 35
  • 43.9 (n)
  • 30.23 (a)
Species with no ortholog for CYP17A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP17A1 Gene

ENSEMBL:
Gene Tree for CYP17A1 (if available)
TreeFam:
Gene Tree for CYP17A1 (if available)

Paralogs for CYP17A1 Gene

Paralogs for CYP17A1 Gene

genes like me logo Genes that share paralogs with CYP17A1: view

Variants for CYP17A1 Gene

Sequence variations from dbSNP and Humsavar for CYP17A1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_001271 Adrenal hyperplasia 5 (AH5)
VAR_001272 Adrenal hyperplasia 5 (AH5)
VAR_001274 Adrenal hyperplasia 5 (AH5)
VAR_001275 Adrenal hyperplasia 5 (AH5)
VAR_001276 Adrenal hyperplasia 5 (AH5)

Structural Variations from Database of Genomic Variants (DGV) for CYP17A1 Gene

Variant ID Type Subtype PubMed ID
nsv7527 CNV Insertion 18451855
nsv526666 CNV Loss 19592680

Variation tolerance for CYP17A1 Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP17A1 Gene

HapMap Linkage Disequilibrium report
CYP17A1
Human Gene Mutation Database (HGMD)
CYP17A1
The Human Cytochrome P450 Allele Nomenclature Database
CYP17A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP17A1 Gene

Disorders for CYP17A1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for CYP17A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
17-alpha-hydroxylase/17,20-lyase deficiency
  • 17,20-lyase deficiency, isolated
46,xy disorder of sex development due to isolated 17,20-lyase deficiency
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia
  • 17 alpha hydroxylase deficient congenital adrenal hyperplasia
17-alpha-hydroxylase deficiency
  • congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
polycystic ovary syndrome
  • multicystic ovaries
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP17A_HUMAN
  • Adrenal hyperplasia 5 (AH5) [MIM:202110]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: salt wasting (SW, the most severe type), simple virilizing (SV, less severely affected patients), with normal aldosterone biosynthesis, non-classic form or late-onset (NC or LOAH)and cryptic (asymptomatic). {ECO:0000269 PubMed:10720067, ECO:0000269 PubMed:11549685, ECO:0000269 PubMed:11836339, ECO:0000269 PubMed:12466376, ECO:0000269 PubMed:14671162, ECO:0000269 PubMed:1515452, ECO:0000269 PubMed:1714904, ECO:0000269 PubMed:1740503, ECO:0000269 PubMed:19793597, ECO:0000269 PubMed:24140098, ECO:0000269 PubMed:24498484, ECO:0000269 PubMed:25650406, ECO:0000269 PubMed:2808364, ECO:0000269 PubMed:8027220, ECO:0000269 PubMed:8245018, ECO:0000269 PubMed:8345056, ECO:0000269 PubMed:8396144, ECO:0000269 PubMed:8550762, ECO:0000269 Ref.20}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP17A1

Genetic Association Database (GAD)
CYP17A1
Human Genome Epidemiology (HuGE) Navigator
CYP17A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP17A1
genes like me logo Genes that share disorders with CYP17A1: view

No data available for Genatlas for CYP17A1 Gene

Publications for CYP17A1 Gene

  1. The T/C polymorphism of the CYP17 gene and G/A polymorphism of the CYP19 gene in endometrial cancer. (PMID: 17167982) Szyllo K. … Kulig B. (J. Exp. Clin. Cancer Res. 2006) 3 48 67
  2. CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. (PMID: 14504283) Sherbet D.P. … Auchus R.J. (J. Biol. Chem. 2003) 3 23 26
  3. The molecular basis of isolated 17,20 lyase deficiency. (PMID: 9888582) Miller W.L. … Auchus R.J. (Endocr. Res. 1998) 2 3 23
  4. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. (PMID: 18980759) Su M.T. … Kuo P.L. (Fertil. Steril. 2010) 3 23
  5. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency. (PMID: 19508587) Qiao J. … Song H.D. (Clin. Endocrinol. (Oxf) 2010) 3 23

Products for CYP17A1 Gene

Sources for CYP17A1 Gene

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