CYP17A1 cytochrome P450 family 17 subfamily A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP17A1provided by HGNC
Official Full Name: cytochrome P450 family 17 subfamily A member 1provided by HGNC
Primary source: HGNC:HGNC:2593
See related: Ensembl:ENSG00000148795 MIM:609300; AllianceGenome:HGNC:2593
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPT7; CYP17; S17AH; P450C17
Summary: 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]
Expression: Restricted expression toward adrenal (RPKM 1959.5) See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (102830531..102837413, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (103716316..103723198, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (104590288..104597170, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proteomics, modeling, and fluorescence assays delineate cytochrome b5 residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase.
Title: Proteomics, modeling, and fluorescence assays delineate cytochrome b(5) residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase.
Prostate cancer androgen biosynthesis relies solely on CYP17A1 downstream metabolites.
Title: Prostate cancer androgen biosynthesis relies solely on CYP17A1 downstream metabolites.
CYP17A1 (rs74357) polymorphism and polycystic ovary syndrome risk: a systemic review and meta-analysis.
Title: CYP17A1 (rs74357) polymorphism and polycystic ovary syndrome risk: a systemic review and meta-analysis.
Mutated CYP17A1 promotes atherosclerosis and early-onset coronary artery disease.
Title: Mutated CYP17A1 promotes atherosclerosis and early-onset coronary artery disease.
Clinical characteristics and molecular etiology of partial 17alpha-hydroxylase deficiency diagnosed in 46,XX patients.
Title: Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.
A Role of DNA Methylation within the CYP17A1 Gene in the Association of Genetic and Environmental Risk Factors with Stress-Related Manifestations of Schizophrenia.
Title: A Role of DNA Methylation within the CYP17A1 Gene in the Association of Genetic and Environmental Risk Factors with Stress-Related Manifestations of Schizophrenia.
Insights into Interactions of Human Cytochrome P450 17A1: A Review.
Title: Insights into Interactions of Human Cytochrome P450 17A1: A Review.
Aberrant H19 Expression Disrupts Ovarian Cyp17 and Testosterone Production and Is Associated with Polycystic Ovary Syndrome in Women.
Title: Aberrant H19 Expression Disrupts Ovarian Cyp17 and Testosterone Production and Is Associated with Polycystic Ovary Syndrome in Women.
Importance of Asparagine 202 in Manipulating Active Site Structure and Substrate Preference for Human CYP17A1.
Title: Importance of Asparagine 202 in Manipulating Active Site Structure and Substrate Preference for Human CYP17A1.
A rare cause of delayed puberty and primary amenorrhea: 17alpha-hydroxylase enzyme deficiency.
Title: A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (359)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Deficiency of steroid 17-alpha-monooxygenase MedGen: C0268285 OMIM: 202110 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies eight loci associated with blood pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study reveals genetic risk underlying Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CYP17 (e-PCR)
- UniSTS:266581

GDB:193859 (e-PCR)
- UniSTS:155767

RH17665 (e-PCR)
- UniSTS:13773

RH80310 (e-PCR)
- UniSTS:91346

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 17-alpha-hydroxyprogesterone aldolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 17-alpha-hydroxyprogesterone aldolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables oxygen binding	TAS Traceable Author Statement more info	PubMed
enables steroid 17-alpha-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables steroid 17-alpha-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables steroid 17-alpha-monooxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables steroid 17-alpha-monooxygenase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in androgen biosynthetic process	TAS Traceable Author Statement more info
involved_in glucocorticoid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glucocorticoid biosynthetic process	TAS Traceable Author Statement more info
involved_in hormone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hormone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in progesterone metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in progesterone metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sex differentiation	TAS Traceable Author Statement more info	PubMed
involved_in steroid biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in steroid metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: steroid 17-alpha-hydroxylase/17,20 lyase

Names: 17-alpha-hydroxyprogesterone aldolase; CYPXVII; cytochrome P450 17A1; cytochrome P450, family 17, subfamily A, polypeptide 1; cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia; cytochrome P450-C17; cytochrome P450c17; cytochrome p450 XVIIA1; steroid 17-alpha-monooxygenase

NP_000093.1

EC 1.14.14.19

EC 1.14.14.32

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.