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Aliases for CYP17A1 Gene

Aliases for CYP17A1 Gene

  • Cytochrome P450, Family 17, Subfamily A, Polypeptide 1 2 3
  • Steroid 17-Alpha-Monooxygenase 2 3 4
  • CYP17 3 4 6
  • Cytochrome P450, Subfamily XVII (Steroid 17-Alpha-Hydroxylase), Adrenal Hyperplasia 2 3
  • 17-Alpha-Hydroxyprogesterone Aldolase 3 4
  • Cytochrome P450 17A1 3 4
  • Cytochrome P450-C17 3 4
  • Cytochrome P450c17 3 4
  • EC 1.14.99.9 4 63
  • P450C17 3 6
  • CYPXVII 3 4
  • S17AH 3 4
  • Steroid 17-Alpha-Hydroxylase/17,20 Lyase 3
  • Cytochrome P450 XVIIA1 3
  • EC 4.1.2.30 4
  • EC 1.14.99 63
  • 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, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP17A1 include 17-alpha-hydroxylase/17,20-lyase deficiency and 17-alpha-hydroxylase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. 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.

Gene Wiki entry for CYP17A1 Gene

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

Genomics for CYP17A1 Gene

Regulatory Elements for CYP17A1 Gene

Genomic Location for CYP17A1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
Reactome Protein details:
REFSEQ proteins:

Domains for CYP17A1 Gene

Gene Families for CYP17A1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP17A1 Gene

Graphical View of Domain Structure for InterPro Entry

P05093

UniProtKB/Swiss-Prot:

CP17A_HUMAN :
  • P05093
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

Gene Ontology (GO) - Molecular Function for CYP17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004508 steroid 17-alpha-monooxygenase activity IMP 22170710
GO:0005506 iron ion binding IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0019825 oxygen binding TAS 2808364
GO:0020037 heme binding IDA 22266943
genes like me logo Genes that share ontologies with CYP17A1: view
genes like me logo Genes that share phenotypes with CYP17A1: view

Animal Models for CYP17A1 Gene

MGI Knock Outs for CYP17A1:

No data available for miRNA , Transcription Factor Targeting 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 4
mitochondrion 2
extracellular 1
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum NAS 9326943
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0030424 axon IEA --
GO:0042995 cell projection --
genes like me logo Genes that share ontologies with CYP17A1: view

Pathways 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 --
GO:0006694 steroid biosynthetic process TAS 3500022
GO:0006702 androgen biosynthetic process TAS --
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
genes like me logo Genes that share ontologies with CYP17A1: view

Compounds for CYP17A1 Gene

(18) HMDB Compounds for CYP17A1 Gene

Compound Synonyms Cas Number PubMed IDs
11beta-Hydroxyprogesterone
Not Available
11b-Hydroxyprogesterone
  • 11b-Hydroxyprogesterone
600-57-7
17a,20a-Dihydroxycholesterol
  • 17alpha,20alpha-Dihydroxycholesterol
Not Available
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
387-79-1
17-Hydroxyprogesterone
  • 17-OHP
68-96-2

(9) Drugbank Compounds for CYP17A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Abiraterone
154229-19-3 target inhibitor
Aldosterone
  • (+)-aldosterone
52-39-1 enzyme inducer
Aminophenazone
  • 4-Dimethylaminoantipyrine
58-15-1 enzyme substrate
Dexamethasone
  • Desametasone
50-02-2 enzyme inhibitor
Dihydrotestosterone
  • (5a,17b)-17-Hydroxyandrostan-3-one
521-18-6 enzyme substrate

(85) Novoseek inferred chemical compound relationships for CYP17A1 Gene

Compound -log(P) Hits PubMed IDs
abiraterone acetate 92.3 20
3beta-hydroxysteroid 90.8 70
17-hydroxypregnenolone 90.3 12
dhea 84.9 65
17-hydroxyprogesterone 84.8 12
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 (52.1).

Integrated Proteomics: protein expression 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 expressions with CYP17A1: view

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
chimpanzee
(Pan troglodytes)
Mammalia CYP17A1 35
  • 99.41 (n)
  • 99.61 (a)
CYP17A1 36
  • 86 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CYP17A1 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 26 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cyp17a1 35
  • 76.2 (n)
  • 68.44 (a)
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 MAF
rs6162 -- 102,837,224(+) TGGCC(A/G)TGTCT reference, synonymous-codon
rs6163 -- 102,837,167(+) CGAAC(A/C)GAATA reference, synonymous-codon
rs284847 -- 102,836,071(-) CCTCC(C/T)GGGGG intron-variant
rs743572 -- 102,837,395(+) ACAGC(A/G)GTGGA utr-variant-5-prime
rs743575 -- 102,835,149(-) AATGC(A/C)GCCTT intron-variant

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

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

(1) OMIM Diseases for CYP17A1 Gene (609300)

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.

(4) University of Copenhagen DISEASES for CYP17A1 Gene

(59) Novoseek inferred disease relationships for CYP17A1 Gene

Disease -log(P) Hits PubMed IDs
infantilism sexual 92.9 7
antley-bixler syndrome 81.6 1
adrenal hyperplasia congenital 78.9 16
polycystic ovary syndrome 77.2 24
adenoma adrenocortical 73.4 13

Relevant External Links for CYP17A1

Genetic Association Database (GAD)
CYP17A1
Human Genome Epidemiology (HuGE) Navigator
CYP17A1
genes like me logo Genes that share disorders with CYP17A1: view

Publications for CYP17A1 Gene

  1. Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. (PMID: 8027220) Fardella C.E. … Miller W.L. (J. Clin. Endocrinol. Metab. 1994) 3 4 23
  2. Expression and purification of functional human 17 alpha- hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha- hydroxylase/17,20-lyase deficiency. (PMID: 8396144) Imai T. … Waterman M.R. (J. Biol. Chem. 1993) 3 4 23
  3. Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. (PMID: 8345056) Fardella C.E. … Miller W.L. (J. Clin. Endocrinol. Metab. 1993) 3 4 23
  4. Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20- lyase): insights into reaction mechanisms and effects of mutations. (PMID: 10406467) Auchus R.J. … Miller W.L. (Mol. Endocrinol. 1999) 3 4 23
  5. Steroid metabolism gene CYP17 polymorphism and the development of breast cancer. (PMID: 11142420) Mitrunen K. … Hirvonen A. (Cancer Epidemiol. Biomarkers Prev. 2000) 3 23 48

Products for CYP17A1 Gene

Sources for CYP17A1 Gene

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