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

Gene ID: 1586, updated on 9-Jul-2024

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
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Genomic context

See CYP17A1 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474219-104474795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474796-104475371 Neighboring gene sideroflexin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104488530-104489304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104489305-104490077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3949 Neighboring gene WW domain binding protein 1 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104534833-104535364 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104535897-104536428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:104536429-104536960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104540708-104541208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104541209-104541709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3950 Neighboring gene RNA, U6 small nuclear 1231, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104575177-104575710 Neighboring gene CYP17A1 antisense RNA 1 Neighboring gene CYP17A1 promoter 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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

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)

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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.

Genomic

  1. NG_007955.1 RefSeqGene

    Range
    5121..12003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000102.4NP_000093.1  steroid 17-alpha-hydroxylase/17,20 lyase

    See identical proteins and their annotated locations for NP_000093.1

    Status: REVIEWED

    Source sequence(s)
    AI492406, BC063388, DA013587
    Consensus CDS
    CCDS7541.1
    UniProtKB/Swiss-Prot
    P05093, Q5TZV7
    UniProtKB/TrEMBL
    A0A1W2PRK7, B2R5M1, Q1HB44
    Related
    ENSP00000358903.3, ENST00000369887.4
    Conserved Domains (1) summary
    pfam00067
    Location:28493
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    102830531..102837413 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    103716316..103723198 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)