LOCUS       NM_000497               3540 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens cytochrome P450 family 11 subfamily B member 1
            (CYP11B1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000497
VERSION     NM_000497.4
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 3540)
  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 3540)
  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 3540)
  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 3540)
  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 3540)
  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 3540)
  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 3540)
  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 3540)
  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 3540)
  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 3540)
  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 AC083841.9, AF478474.1,
            X55764.1 and BX647738.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 4, 2019 this sequence version replaced NM_000497.3.
            
            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 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 (1) encodes the longer 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 :: AF478474.1, X55764.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000292427.10/
                                                  ENSP00000292427.5
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC083841.9         8006-8010
            6-884               AF478474.1         1-879
            885-958             X55764.1           877-950
            959-2097            AF478474.1         954-2092
            2098-3540           BX647738.1         1120-2562
FEATURES             Location/Qualifiers
     source          1..3540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..3540
                     /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..251
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1524
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /EC_number="1.14.15.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 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 1
                     precursor"
                     /protein_id="NP_000488.3"
                     /db_xref="CCDS:CCDS6392.1"
                     /db_xref="GeneID:1584"
                     /db_xref="HGNC:HGNC:2591"
                     /db_xref="MIM:610613"
                     /translation="MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRR
                     PGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQ
                     VDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
                     VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSS
                     ASLNFLHALEVMFKSTVQLMFMPRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQ
                     ELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTVFPLLMTLFELARNP
                     NVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVL
                     QNYHIPAGTLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMRQC
                     LGRRLAEAEMLLLLHHVLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN"
     exon            252..407
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            408..607
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            608..811
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            812..966
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1133
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1212
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1410
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..3540
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gggagcattg gaatggcact cagggcaaag gcagaggtgt gcatggcagt gccctggctg
       61 tccctgcaaa gggcacaggc actgggcacg agagccgccc gggtccccag gacagtgctg
      121 ccctttgaag ccatgccccg gcgtccaggc aacaggtggc tgaggctgct gcagatctgg
      181 agggagcagg gttatgagga cctgcacctg gaagtacacc agaccttcca ggaactaggg
      241 cccattttca ggtacgactt gggaggagca ggcatggtgt gtgtgatgct gccggaggac
      301 gtggagaagc tgcaacaggt ggacagcctg catccccaca ggatgagcct ggagccctgg
      361 gtggcctaca gacaacatcg tgggcacaaa tgtggcgtgt tcttgctgaa tgggcctgaa
      421 tggcgcttca accgattgcg gctgaatcca gaagtgctgt cgcccaacgc tgtgcagagg
      481 ttcctcccga tggtggatgc agtggccagg gacttctccc aggccctgaa gaagaaggtg
      541 ctgcagaacg cccgggggag cctgaccctg gacgtccagc ccagcatctt ccactacacc
      601 atagaagcca gcaacttggc tctttttgga gagcggctgg gcctggttgg ccacagcccc
      661 agttctgcca gcctgaactt cctccatgcc ctggaggtca tgttcaaatc caccgtccag
      721 ctcatgttca tgcccaggag cctgtctcgc tggaccagcc ccaaggtgtg gaaggagcac
      781 tttgaggcct gggactgcat cttccagtac ggcgacaact gtatccagaa aatctatcag
      841 gaactggcct tcagccgccc tcaacagtac accagcatcg tggcggagct cctgttgaat
      901 gcggaactgt cgccagatgc catcaaggcc aactctatgg aactcactgc agggagcgtg
      961 gacacgacgg tgtttccctt gctgatgacg ctctttgagc tggctcggaa ccccaacgtg
     1021 cagcaggccc tgcgccagga gagcctggcc gccgcagcca gcatcagtga acatccccag
     1081 aaggcaacca ccgagctgcc cttgctgcgt gcggccctca aggagacctt gcggctctac
     1141 cctgtgggtc tgtttctgga gcgagtggcg agctcagact tggtgcttca gaactaccac
     1201 atcccagctg ggacattggt gcgcgtgttc ctctactctc tgggtcgcaa ccccgccttg
     1261 ttcccgaggc ctgagcgcta taacccccag cgctggctag acatcagggg ctccggcagg
     1321 aacttctacc acgtgccctt tggctttggc atgcgccagt gccttgggcg gcgcctggca
     1381 gaggcagaga tgctgctgct gctgcaccat gtgctgaaac acctccaggt ggagacacta
     1441 acccaagagg acataaagat ggtctacagc ttcatattga ggcccagcat gttccccctc
     1501 ctcaccttca gagccatcaa ctaatcacgt ctctgcaccc agggtcccag cctggccacc
     1561 agcctccctt tctgcctgac cccaggccac ccctcttctc tcccacatgc acagcttcct
     1621 gagtcacccc tctgtctaac cagccccagc acaaatggaa ctcccgaggg cctctaggac
     1681 cagggtttgc caggctaagc agcaatgcca gggcacagct ggggaagatc ttgctgacct
     1741 tgtccccagc cccacctggc cctttctcca gcaagcactg tcctctgggc agtttgcccc
     1801 catccctccc agtgctggct ccaggctcct cgtgtggcca tacaagggtg ctgtggtttt
     1861 gtcccttgcc ttcctgccta gtctcacatg tccctgttcc tcttcccctg gccagggccc
     1921 ctgcgcagac tgtcagagtc attaagcggg atcccagcat ctcagagtcc agtcaagttc
     1981 cctcctgcag cctgacccct aggcagctcg agcatgccct gagctctctg aaagttgtca
     2041 ccctggaata gggtcctgca gggtagaata aaaaggcccc tgtggtcact tgtcctgaca
     2101 tccccatttt caagtgatac aactgagtct cgagggacgt gtgttcccca gctgatcgtg
     2161 tcagcctcat gccccaggcc tcatctttca tggaccaggc cttgttccag gagtgggtgt
     2221 tgggtcctct gcttcctgtg ctgtcccctg gggaaggtcc cgaggatgct gtcaggagat
     2281 ggaagagtca tgtggggtgg gaacctgggg tgtggttcca gaaatgtttt tggcaacagg
     2341 agagacagga ttgggccaac aaggactcag acgagtttta ttgactcatt tctctggttg
     2401 atacggagcc atgtcatgtg ccacgacctg gggtgggcac agggaggctg cagtttcctg
     2461 cgtgaacctg ccttgggcct catctgctcc tagcccagca gagagagttg acccctcctg
     2521 aactggccac tccccagtgc tcccgtgcag ggagaggaag cacccagttt gagagtgtac
     2581 ccagccagac tgtctttatc tccatggatt ttcatcaggg caaagatcac agcagccagc
     2641 tcctggtggc tgatgaggat cagagcattt gttcccccat gaaaggggaa atccctatgg
     2701 catcattcca gtggtggtca gtagatccag gacgccctgc aggactcagc ctgtacaggg
     2761 agatgaagtg ccccaggttg ggagcacacc tagctagagt tatttgtgtt aatctattca
     2821 ggatgctcta agaaaacgcc atagactggg ttgctgacaa acatcagaat tctatttctc
     2881 atggttctga aggcttagaa ggctaagatc aaggtgtcag caggttctgt gtctggtgag
     2941 gacccacctc ttgtttcata gataaaacct tcttgctgtg tcctcacatg gtggaaaagg
     3001 gcaagacagc tcacagagac ctcttttata aggacgccag ttccattcaa gagggcactg
     3061 cctgcattcc cttcccccct caaaggcccg gccctgctat tatcgtcacc ttggtgacta
     3121 gatttcagcc tatgaattct ggaggcggac acaaaaattc agattaaact actctgcttc
     3181 tgtttctcta aaatctacat ccttctcata tacaaaatac atgcatttct ccccagtagc
     3241 cccaaatatc aactcatttt agcatcaact ttaaaattgt agtccaaagt gtgatttaaa
     3301 tgttatctga gtcaaacatg ggtaagactc aaggtacaat ttatcctgag tccaactgtt
     3361 cttgctgcga acctatgaaa tcaaacatgt tatgtgcttc caaaatacag tggttggaga
     3421 ggcataggat aaacattccc attccagaaa ggagaaacag gaaagaagaa aggagtaaca
     3481 agtttcaagc aactccaaaa ttgaatgtga caaacagtat taaaccttaa gcctcaagaa
//
