LOCUS       NM_000102               1750 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens cytochrome P450 family 17 subfamily A member 1
            (CYP17A1), mRNA.
ACCESSION   NM_000102
VERSION     NM_000102.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1750)
  AUTHORS   Siklar,Z., Camtosun,E., Bolu,S., Yildiz,M., Akinci,A., Bas,F.,
            Dundar,I., Bestas,A., Unal,E., Kocaay,P., Guran,T., Buyukyilmaz,G.,
            Ugurlu,A.K., Tosun,B.G., Turan,I., Kurnaz,E., Yuksel,B.,
            Turkkahraman,D., Cayir,A., Celmeli,G., Gonc,E.N., Eklioglu,B.S.,
            Cetinkaya,S., Yilmaz,S.K., Atabek,M.E., Buyukinan,M., Arslan,E.,
            Mengen,E., Cakir,E.D.P., Karaoglan,M., Hatipoglu,N., Orbak,Z.,
            Ucar,A., Akyurek,N., Akbas,E.D., Isik,E., Kaygusuz,S.B.,
            Sutcu,Z.K., Seymen,G. and Berberoglu,M.
  TITLE     17alpha Hydroxylase/17,20 lyase deficiency: clinical features and
            genetic insights from a large Turkey cohort
  JOURNAL   Endocrine 85 (3), 1407-1416 (2024)
   PUBMED   39020240
  REMARK    GeneRIF: 17alpha Hydroxylase/17,20 lyase deficiency: clinical
            features and genetic insights from a large Turkey cohort.
REFERENCE   2  (bases 1 to 1750)
  AUTHORS   Richard,A.M., Estrada,D.F., Flynn,L., Pochapsky,S.S., Scott,E.E.
            and Pochapsky,T.C.
  TITLE     Tracking protein-protein interactions by NMR: conformational
            selection in human steroidogenic cytochrome P450 CYP17A1 induced by
            cytochrome b5
  JOURNAL   Phys Chem Chem Phys 26 (24), 16980-16988 (2024)
   PUBMED   38842434
  REMARK    GeneRIF: Tracking protein-protein interactions by NMR:
            conformational selection in human steroidogenic cytochrome P450
            CYP17A1 induced by cytochrome b5.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1750)
  AUTHORS   Wang,M., Hu,X., Xu,X., Chen,H. and Xue,J.
  TITLE     Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p.
            Gly303Asp) by Genotyping a Chinese Patient with 46, XY
            17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying
            Lesion
  JOURNAL   Discov Med 36 (184), 1012-1019 (2024)
   PUBMED   38798260
  REMARK    GeneRIF: Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p.
            Gly303Asp) by Genotyping a Chinese Patient with 46, XY
            17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying
            Lesion.
REFERENCE   4  (bases 1 to 1750)
  AUTHORS   Tateishi,Y., Webb,S.N., Li,B., Liu,L., Lindsey Rose,K., Leser,M.,
            Patel,P. and Guengerich,F.P.
  TITLE     Proteomics, modeling, and fluorescence assays delineate cytochrome
            b5 residues involved in binding and stimulation of cytochrome P450
            17A1 17,20-lyase
  JOURNAL   J Biol Chem 300 (3), 105688 (2024)
   PUBMED   38280431
  REMARK    GeneRIF: Proteomics, modeling, and fluorescence assays delineate
            cytochrome b5 residues involved in binding and stimulation of
            cytochrome P450 17A1 17,20-lyase.
REFERENCE   5  (bases 1 to 1750)
  AUTHORS   Snaterse,G., Taylor,A.E., Moll,J.M., O'Neil,D.M., Teubel,W.J., van
            Weerden,W.M., Arlt,W. and Hofland,J.
  TITLE     Prostate cancer androgen biosynthesis relies solely on CYP17A1
            downstream metabolites
  JOURNAL   J Steroid Biochem Mol Biol 236, 106446 (2024)
   PUBMED   38104728
  REMARK    GeneRIF: Prostate cancer androgen biosynthesis relies solely on
            CYP17A1 downstream metabolites.
REFERENCE   6  (bases 1 to 1750)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1750)
  AUTHORS   Fan,Y.S., Sasi,R., Lee,C., Winter,J.S., Waterman,M.R. and Lin,C.C.
  TITLE     Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to
            10q24.3 by fluorescence in situ hybridization and simultaneous
            chromosome banding
  JOURNAL   Genomics 14 (4), 1110-1111 (1992)
   PUBMED   1478654
REFERENCE   8  (bases 1 to 1750)
  AUTHORS   Yanase,T., Waterman,M.R., Zachmann,M., Winter,J.S., Simpson,E.R.
            and Kagimoto,M.
  TITLE     Molecular basis of apparent isolated 17,20-lyase deficiency:
            compound heterozygous mutations in the C-terminal region
            (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17
            alpha-hydroxylase/17,20-lyase deficiency
  JOURNAL   Biochim Biophys Acta 1139 (4), 275-279 (1992)
   PUBMED   1515452
REFERENCE   9  (bases 1 to 1750)
  AUTHORS   Imai,T., Yanase,T., Waterman,M.R., Simpson,E.R. and Pratt,J.J.
  TITLE     Canadian Mennonites and individuals residing in the Friesland
            region of The Netherlands share the same molecular basis of 17
            alpha-hydroxylase deficiency
  JOURNAL   Hum Genet 89 (1), 95-96 (1992)
   PUBMED   1577471
REFERENCE   10 (bases 1 to 1750)
  AUTHORS   Krohn,K., Uibo,R., Aavik,E., Peterson,P. and Savilahti,K.
  TITLE     Identification by molecular cloning of an autoantigen associated
            with Addison's disease as steroid 17 alpha-hydroxylase
  JOURNAL   Lancet 339 (8796), 770-773 (1992)
   PUBMED   1347802
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA013587.1, BC063388.1 and
            AI492406.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000102.3.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289898.1, SRR5189667.150130.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146411, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369887.4/ ENSP00000358903.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-477               DA013587.1         92-568
            478-1747            BC063388.1         450-1719
            1748-1750           AI492406.1         26-28               c
FEATURES             Location/Qualifiers
     source          1..1750
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     gene            1..1750
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /note="cytochrome P450 family 17 subfamily A member 1"
                     /db_xref="GeneID:1586"
                     /db_xref="HGNC:HGNC:2593"
                     /db_xref="MIM:609300"
     exon            1..349
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..1579
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /EC_number="1.14.14.19"
                     /EC_number="1.14.14.32"
                     /note="cytochrome p450 XVIIA1; steroid
                     17-alpha-monooxygenase; cytochrome P450, subfamily XVII
                     (steroid 17-alpha-hydroxylase), adrenal hyperplasia;
                     CYPXVII; cytochrome P450c17; cytochrome P450-C17;
                     cytochrome P450 17A1; 17-alpha-hydroxyprogesterone
                     aldolase; cytochrome P450, family 17, subfamily A,
                     polypeptide 1"
                     /codon_start=1
                     /product="steroid 17-alpha-hydroxylase/17,20 lyase"
                     /protein_id="NP_000093.1"
                     /db_xref="CCDS:CCDS7541.1"
                     /db_xref="GeneID:1586"
                     /db_xref="HGNC:HGNC:2593"
                     /db_xref="MIM:609300"
                     /translation="MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLP
                     RHGHMHNNFFKLQKKYGPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATL
                     DIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATH
                     NGQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLV
                     PWLKIFPNKTLEKLKSHVKIRNDLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNG
                     NAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQ
                     NVGFSRTPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEV
                     IINLWALHHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQ
                     ELFLIMAWLLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST
                     "
     exon            350..488
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="alignment:Splign:2.1.0"
     exon            489..718
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="alignment:Splign:2.1.0"
     exon            719..805
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="alignment:Splign:2.1.0"
     exon            806..1021
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1191
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1295
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1750
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1725..1730
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /note="hexamer: CATAAA"
     polyA_site      1750
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /note="major polyA site"
ORIGIN      
        1 acagctcttc tactccactg ctgtctatct tgcctgccgg cacccagcca ccatgtggga
       61 gctcgtggct ctcttgctgc ttaccctagc ttatttgttt tggcccaaga gaaggtgccc
      121 tggtgccaag taccccaaga gcctcctgtc cctgcccctg gtgggcagcc tgccattcct
      181 ccccagacac ggccatatgc ataacaactt cttcaagctg cagaaaaaat atggccccat
      241 ctattcggtt cgtatgggca ccaagactac agtgattgtc ggccaccacc agctggccaa
      301 ggaggtgctt attaagaagg gcaaggactt ctctgggcgg cctcaaatgg caactctaga
      361 catcgcgtcc aacaaccgta agggtatcgc cttcgctgac tctggcgcac actggcagct
      421 gcatcgaagg ctggcgatgg ccacctttgc cctgttcaag gatggcgatc agaagctgga
      481 gaagatcatt tgtcaggaaa tcagtacatt gtgtgatatg ctggccaccc acaacggaca
      541 gtccatagac atctcctttc ctgtcttcgt ggcggtaacc aatgtcatct ccttgatctg
      601 cttcaatacc tcctacaaga atggggaccc tgagttgaat gtcatacaga attacaatga
      661 aggcatcata gacaacctga gcaaagacag cctggtggac ctagtcccct ggttgaagat
      721 tttccccaac aaaaccctgg aaaaattaaa gagccatgtt aaaatacgaa atgatctgct
      781 gaataaaata cttgaaaatt acaaggagaa attccggagt gactctatca ccaacatgct
      841 ggacacactg atgcaagcca agatgaactc agataatggc aatgctggcc cagatcaaga
      901 ctcagagctg ctttcagata accacattct caccaccata ggggacatct ttggggctgg
      961 cgtggagacc accacctctg tggttaaatg gaccctggcc ttcctgctgc acaatcctca
     1021 ggtgaagaag aagctctacg aggagattga ccagaatgtg ggtttcagcc gcacaccaac
     1081 tatcagtgac cgtaaccgtc tcctcctgct ggaggccacc atccgagagg tgcttcgcct
     1141 caggcccgtg gcccctatgc tcatccccca caaggccaac gttgactcca gcatcggtga
     1201 gtttgctgtg gacaagggca cagaagttat catcaatctg tgggcgctgc atcacaatga
     1261 gaaggagtgg caccagccgg atcagttcat gcctgagcgt ttcttgaatc cagcggggac
     1321 ccagctcatc tcaccgtcag taagctattt gcccttcgga gcaggacctc gctcctgtat
     1381 aggtgagatc ctggcccgcc aggagctctt cctcatcatg gcctggctgc tgcagaggtt
     1441 cgacctggag gtgccagatg atgggcagct gccctccctg gaaggcatcc ccaaggtggt
     1501 ctttctgatc gactctttca aagtgaagat caaggtgcgc caggcctgga gggaagccca
     1561 ggctgagggt agcacctaaa ggctgtaact cacagcccct gtccacccta tgtggcccca
     1621 caacacagat ttagagatac aaccccccac ccttctccgc cattcttccc tactcccaac
     1681 ccactctgcc ttctttttca gcttgtggca atgccagtga tgtgcataaa cagttttttt
     1741 ttttccataa
//
