U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 1586, updated on 9-Dec-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYP17A1 in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102830531..102837413, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103716316..103723198, complement)
    RS_2024_09 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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    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 lyase activity 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)

    NEW Try the new Transcript table

    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_2024_08

    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)