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

    Gene ID: 1586, updated on 28-Jun-2015
    Official Symbol
    CYP17A1provided by HGNC
    Official Full Name
    cytochrome P450, family 17, subfamily A, polypeptide 1provided by HGNC
    Primary source
    HGNC:HGNC:2593
    See related
    Ensembl:ENSG00000148795; HPRD:01944; 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]
    Orthologs
    See CYP17A1 in Epigenomics, MapViewer
    Location:
    10q24.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105378461 Neighboring gene CYP17A1 antisense RNA 1 Neighboring gene C10orf32-ASMT readthrough (NMD candidate) Neighboring gene profilin 1 pseudogene 11 Neighboring gene chromosome 10 open reading frame 32

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    steroid 17-alpha-monooxygenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    progesterone metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sex differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    steroid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    steroid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    steroid metabolic process TAS
    Traceable Author Statement
    more info
     
    sterol metabolic process TAS
    Traceable Author Statement
    more info
     
    xenobiotic 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
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    steroid 17-alpha-hydroxylase/17,20 lyase
    Names
    steroid 17-alpha-hydroxylase/17,20 lyase
    17-alpha-hydroxyprogesterone aldolase
    CYPXVII
    cytochrome P450 17A1
    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

    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, OTTHUMP00000020382, ENST00000369887, OTTHUMT00000050101
      Conserved Domains (1) summary
      pfam00067
      Location:28493
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      104873550..104880507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)