LOCUS       NM_001026213            3353 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens cytochrome P450 family 11 subfamily B member 1
            (CYP11B1), transcript variant 2, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001026213
VERSION     NM_001026213.1
KEYWORDS    RefSeq.
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 3353)
  AUTHORS   Yu,Y.Y., Tao,Y.K., Hou,J.Z., Zhou,G.X., Du,J.J. and Zhang,D.
  TITLE     [Analysis of a family with 11beta-hydroxylase deficiency due to a
            mutation in the CYP11B1 gene]
  JOURNAL   Zhonghua Yi Xue Za Zhi 104 (22), 2074-2078 (2024)
   PUBMED   38858218
  REMARK    GeneRIF: [Analysis of a family with 11beta-hydroxylase deficiency
            due to a mutation in the CYP11B1 gene].
REFERENCE   2  (bases 1 to 3353)
  AUTHORS   Liu,H., Liu,F., Wei,Z., Liu,P., Liu,Q., Chen,L. and Hou,X.
  TITLE     Identification and functional characterization of compound
            heterozygous CYP11B1 gene mutations
  JOURNAL   Endocrine 84 (1), 253-264 (2024)
   PUBMED   38285409
  REMARK    GeneRIF: Identification and functional characterization of compound
            heterozygous CYP11B1 gene mutations.
REFERENCE   3  (bases 1 to 3353)
  AUTHORS   Lu,W.L., Ma,X.Y., Zhang,J., Wang,J.Q., Zhang,T.T., Ye,L., Xiao,Y.,
            Dong,Z.Y., Wang,W., Sun,S.Y., Li,C.Y., Hu,R.G., Ning,G. and
            Zhang,L.D.
  TITLE     Clinical and molecular characterization of 10 Chinese children with
            congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
  JOURNAL   World J Pediatr 20 (4), 422-433 (2024)
   PUBMED   37486441
  REMARK    GeneRIF: Clinical and molecular characterization of 10 Chinese
            children with congenital adrenal hyperplasia due to
            11beta-hydroxylase deficiency.
            Erratum:[World J Pediatr. 2024 Jan 19. doi:
            10.1007/s12519-023-00784-w.. PMID: 38240902]
REFERENCE   4  (bases 1 to 3353)
  AUTHORS   Sun,B., Lu,L., Xie,S., Zhang,W., Zhang,X., Tong,A., Chen,S., Wu,X.,
            Mao,J., Wang,X., Qiu,L. and Nie,M.
  TITLE     Molecular analysis of 12 Chinese patients with 11beta-hydroxylase
            deficiency and in vitro functional study of 20 CYP11B1 missense
            variants
  JOURNAL   FASEB J 37 (4), e22869 (2023)
   PUBMED   36929050
  REMARK    GeneRIF: Molecular analysis of 12 Chinese patients with
            11beta-hydroxylase deficiency and in vitro functional study of 20
            CYP11B1 missense variants.
REFERENCE   5  (bases 1 to 3353)
  AUTHORS   Huang,X., Cheng,Y. and Wang,N.
  TITLE     Genetic variants in CYP11B1 influence the susceptibility to
            coronary heart disease
  JOURNAL   BMC Med Genomics 15 (1), 158 (2022)
   PUBMED   35831903
  REMARK    GeneRIF: Genetic variants in CYP11B1 influence the susceptibility
            to coronary heart disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3353)
  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 3353)
  AUTHORS   Helmberg,A., Ausserer,B. and Kofler,R.
  TITLE     Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1
            causes congenital adrenal hyperplasia due to steroid 11
            beta-hydroxylase deficiency
  JOURNAL   J Clin Endocrinol Metab 75 (5), 1278-1281 (1992)
   PUBMED   1430088
REFERENCE   8  (bases 1 to 3353)
  AUTHORS   Pascoe,L., Curnow,K.M., Slutsker,L., Connell,J.M., Speiser,P.W.,
            New,M.I. and White,P.C.
  TITLE     Glucocorticoid-suppressible hyperaldosteronism results from hybrid
            genes created by unequal crossovers between CYP11B1 and CYP11B2
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 8327-8331 (1992)
   PUBMED   1518866
REFERENCE   9  (bases 1 to 3353)
  AUTHORS   Lifton,R.P., Dluhy,R.G., Powers,M., Rich,G.M., Gutkin,M., Fallo,F.,
            Gill,J.R. Jr., Feld,L., Ganguly,A., Laidlaw,J.C. et al.
  TITLE     Hereditary hypertension caused by chimaeric gene duplications and
            ectopic expression of aldosterone synthase
  JOURNAL   Nat Genet 2 (1), 66-74 (1992)
   PUBMED   1303253
REFERENCE   10 (bases 1 to 3353)
  AUTHORS   Kawamoto,T., Mitsuuchi,Y., Toda,K., Yokoyama,Y., Miyahara,K.,
            Miura,S., Ohnishi,T., Ichikawa,Y., Nakao,K., Imura,H. et al.
  TITLE     Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in
            the biosynthesis of glucocorticoids and mineralocorticoids in
            humans
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1458-1462 (1992)
   PUBMED   1741400
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC096286.3, BC096287.3 and
            BX647738.1.
            
            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 mitochondrial inner membrane and is
            involved in the conversion of progesterone to cortisol in the
            adrenal cortex. Mutations in this gene cause congenital adrenal
            hyperplasia due to 11-beta-hydroxylase deficiency. Transcript
            variants encoding different isoforms have been noted for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an in-frame coding exon
            compared to transcript variant 1. This results in an isoform (2)
            that is missing a 66 aa segment compared to isoform 1.
            
            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 :: BC096286.3 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-231               BC096286.3         1-231
            232-879             BC096287.3         232-879
            880-1638            BC096286.3         880-1638
            1639-3353           BX647738.1         864-2578
FEATURES             Location/Qualifiers
     source          1..3353
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..3353
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /note="cytochrome P450 family 11 subfamily B member 1"
                     /db_xref="GeneID:1584"
                     /db_xref="HGNC:HGNC:2591"
                     /db_xref="MIM:610613"
     exon            1..246
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     CDS             8..1321
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /EC_number="1.14.15.4"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; cytochrome p450 XIB1; steroid
                     11-beta-monooxygenase; cytochrome P450, subfamily XIB
                     (steroid 11-beta-hydroxylase), polypeptide 1; cytochrome
                     P450 11B1, mitochondrial; cytochrome P450C11; cytochrome
                     P-450c11; cytochrome P450, family 11, subfamily B,
                     polypeptide 1; steroid 11-beta-hydroxylase, CYP11B1"
                     /codon_start=1
                     /product="cytochrome P450 11B1, mitochondrial isoform 2
                     precursor"
                     /protein_id="NP_001021384.1"
                     /db_xref="CCDS:CCDS34953.1"
                     /db_xref="GeneID:1584"
                     /db_xref="HGNC:HGNC:2591"
                     /db_xref="MIM:610613"
                     /translation="MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRR
                     PGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQ
                     VDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
                     VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSS
                     ASLNFLHALEVMFKSTVQLMFMPRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQ
                     ELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTVFPLLMTLFELARNP
                     NVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVL
                     QNYHIPAGVLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN"
     exon            247..402
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            403..602
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            603..806
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            807..961
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1128
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            1129..1207
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..3337
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1864..1869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
     polyA_site      1895
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /experiment="experimental evidence, no additional details
                     recorded"
     regulatory      3316..3321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
     polyA_site      3337
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
ORIGIN      
        1 cattggaatg gcactcaggg caaaggcaga ggtgtgcatg gcagtgccct ggctgtccct
       61 gcaaagggca caggcactgg gcacgagagc cgcccgggtc cccaggacag tgctgccctt
      121 tgaagccatg ccccggcgtc caggcaacag gtggctgagg ctgctgcaga tctggaggga
      181 gcagggttat gaggacctgc acctggaagt acaccagacc ttccaggaac tagggcccat
      241 tttcaggtac gacttgggag gagcaggcat ggtgtgtgtg atgctgccgg aggacgtgga
      301 gaagctgcaa caggtggaca gcctgcatcc ccacaggatg agcctggagc cctgggtggc
      361 ctacagacaa catcgtgggc acaaatgtgg cgtgttcttg ctgaatgggc ctgaatggcg
      421 cttcaaccga ttgcggctga atccagaagt gctgtcgccc aacgctgtgc agaggttcct
      481 cccgatggtg gatgcagtgg ccagggactt ctcccaggcc ctgaagaaga aggtgctgca
      541 gaacgcccgg gggagcctga ccctggacgt ccagcccagc atcttccact acaccataga
      601 agccagcaac ttggctcttt ttggagagcg gctgggcctg gttggccaca gccccagttc
      661 tgccagcctg aacttcctcc atgccctgga ggtcatgttc aaatccaccg tccagctcat
      721 gttcatgccc aggagcctgt ctcgctggac cagccccaag gtgtggaagg agcactttga
      781 ggcctgggac tgcatcttcc agtacggcga caactgtatc cagaaaatct atcaggaact
      841 ggccttcagc cgccctcaac agtacaccag catcgtggcg gagctcctgt tgaatgcgga
      901 actgtcgcca gatgccatca aggccaactc tatggaactc actgcaggga gcgtggacac
      961 gacggtgttt cccttgctga tgacgctctt tgagctggct cggaacccca acgtgcagca
     1021 ggccctgcgc caggagagcc tggccgccgc agccagcatc agtgaacatc cccagaaggc
     1081 aaccaccgag ctgcccttgc tgcgtgcggc cctcaaggag accttgcggc tctaccctgt
     1141 gggtctgttt ctggagcgag tggcgagctc agacttggtg cttcagaact accacatccc
     1201 agctggggtg ctgaaacacc tccaggtgga gacactaacc caagaggaca taaagatggt
     1261 ctacagcttc atattgaggc ccagcatgtt ccccctcctc accttcagag ccatcaacta
     1321 atcacgtctc tgcacccagg gtcccagcct ggccaccagc ctccctttct gcctgacccc
     1381 aggccacccc tcttctctcc cacatgcaca gcttcctgag tcacccctct gtctaaccag
     1441 ccccagcaca aatggaactc ccgagggcct ctaggaccag ggtttgccag gctaagcagc
     1501 aatgccaggg cacagctggg gaagatcttg ctgaccttgt ccccagcccc acctggccct
     1561 ttctccagca agcactgtcc tctgggcagt ttgcccccat ccctcccagt gctggctcca
     1621 ggctcctcgt gtggccatac aagggtgctg tggttttgtc ccttgccttc ctgcctagtc
     1681 tcacatgtcc ctgttcctct tcccctggcc agggcccctg cgcagactgt cagagtcatt
     1741 aagcgggatc ccagcatctc agagtccagt caagttccct cctgcagcct gacccctagg
     1801 cagctcgagc atgccctgag ctctctgaaa gttgtcaccc tggaataggg tcctgcaggg
     1861 tagaataaaa aggcccctgt ggtcacttgt cctgacatcc ccattttcaa gtgatacaac
     1921 tgagtctcga gggacgtgtg ttccccagct gatcgtgtca gcctcatgcc ccaggcctca
     1981 tctttcatgg accaggcctt gttccaggag tgggtgttgg gtcctctgct tcctgtgctg
     2041 tcccctgggg aaggtcccga ggatgctgtc aggagatgga agagtcatgt ggggtgggaa
     2101 cctggggtgt ggttccagaa atgtttttgg caacaggaga gacaggattg ggccaacaag
     2161 gactcagacg agttttattg actcatttct ctggttgata cggagccatg tcatgtgcca
     2221 cgacctgggg tgggcacagg gaggctgcag tttcctgcgt gaacctgcct tgggcctcat
     2281 ctgctcctag cccagcagag agagttgacc cctcctgaac tggccactcc ccagtgctcc
     2341 cgtgcaggga gaggaagcac ccagtttgag agtgtaccca gccagactgt ctttatctcc
     2401 atggattttc atcagggcaa agatcacagc agccagctcc tggtggctga tgaggatcag
     2461 agcatttgtt cccccatgaa aggggaaatc cctatggcat cattccagtg gtggtcagta
     2521 gatccaggac gccctgcagg actcagcctg tacagggaga tgaagtgccc caggttggga
     2581 gcacacctag ctagagttat ttgtgttaat ctattcagga tgctctaaga aaacgccata
     2641 gactgggttg ctgacaaaca tcagaattct atttctcatg gttctgaagg cttagaaggc
     2701 taagatcaag gtgtcagcag gttctgtgtc tggtgaggac ccacctcttg tttcatagat
     2761 aaaaccttct tgctgtgtcc tcacatggtg gaaaagggca agacagctca cagagacctc
     2821 ttttataagg acgccagttc cattcaagag ggcactgcct gcattccctt cccccctcaa
     2881 aggcccggcc ctgctattat cgtcaccttg gtgactagat ttcagcctat gaattctgga
     2941 ggcggacaca aaaattcaga ttaaactact ctgcttctgt ttctctaaaa tctacatcct
     3001 tctcatatac aaaatacatg catttctccc cagtagcccc aaatatcaac tcattttagc
     3061 atcaacttta aaattgtagt ccaaagtgtg atttaaatgt tatctgagtc aaacatgggt
     3121 aagactcaag gtacaattta tcctgagtcc aactgttctt gctgcgaacc tatgaaatca
     3181 aacatgttat gtgcttccaa aatacagtgg ttggagaggc ataggataaa cattcccatt
     3241 ccagaaagga gaaacaggaa agaagaaagg agtaacaagt ttcaagcaac tccaaaattg
     3301 aatgtgacaa acagtattaa accttaagcc tcaagaaaaa aaaaaaaaaa aaa
//
