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

Gene ID: 1586, updated on 5-Aug-2018

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; Vega:OTTHUMG00000018969
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

Genomic context

See CYP17A1 in Genome Data Viewer
Location:
10q24.32
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (102830531..102837533, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104590288..104597290, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene sideroflexin 2 Neighboring gene WW domain binding protein 1 like Neighboring gene RNA, U6 small nuclear 1231, pseudogene Neighboring gene CYP17A1 antisense RNA 1 Neighboring gene CYP17A1 promoter Neighboring gene transmembrane protein 108-like Neighboring gene prostaglandin E synthase 3 pseudogene 4 Neighboring gene profilin 1 pseudogene 11

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
17-alpha-hydroxyprogesterone aldolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
17-alpha-hydroxyprogesterone aldolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxygen binding TAS
Traceable Author Statement
more info
PubMed 
steroid 17-alpha-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid 17-alpha-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
steroid 17-alpha-monooxygenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
steroid 17-alpha-monooxygenase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
androgen biosynthetic process TAS
Traceable Author Statement
more info
 
glucocorticoid biosynthetic process TAS
Traceable Author Statement
more info
 
hormone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hormone biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
progesterone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
progesterone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
sex differentiation TAS
Traceable Author Statement
more info
PubMed 
steroid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
steroid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_007955.1 RefSeqGene

    Range
    5001..12003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000102.3NP_000093.1  steroid 17-alpha-hydroxylase/17,20 lyase precursor

    See identical proteins and their annotated locations for NP_000093.1

    Status: REVIEWED

    Source sequence(s)
    AI492406, BC063388, DA013587, DA016804
    Consensus CDS
    CCDS7541.1
    UniProtKB/Swiss-Prot
    P05093
    UniProtKB/TrEMBL
    Q1HB44
    Related
    ENSP00000358903.3, OTTHUMP00000020382, ENST00000369887.3, OTTHUMT00000050101
    Conserved Domains (1) summary
    pfam00067
    Location:28493
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    102830531..102837533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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