LOCUS       NM_005525               1384 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens hydroxysteroid 11-beta dehydrogenase 1 (HSD11B1),
            transcript variant 1, mRNA.
ACCESSION   NM_005525
VERSION     NM_005525.4
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 1384)
  AUTHORS   Valdez-Velazquez,L.L., Ochoa-Diaz-Lopez,H., Delgado-Enciso,I.,
            Rangel-Villalobos,H., Rodriguez-Sanchez,I.P., Garcia-Miranda,R.,
            Velazquez-Ramirez,D.D., Reyes-Mendez,N.A., Barajas-Saucedo,C.E. and
            Martinez-Fierro,M.L.
  TITLE     Association of polymorphisms of HSD11B1 and ACE genes with trachoma
            disease
  JOURNAL   J Genet 103 (2024)
   PUBMED   39049478
  REMARK    GeneRIF: Association of polymorphisms of HSD11B1 and ACE genes with
            trachoma disease.
REFERENCE   2  (bases 1 to 1384)
  AUTHORS   Schluessel,S., Zhang,W., Nowotny,H., Bidlingmaier,M., Hintze,S.,
            Kunz,S., Martini,S., Mehaffey,S., Meinke,P., Neuerburg,C.,
            Schmidmaier,R., Schoser,B., Reisch,N. and Drey,M.
  TITLE     11-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene
            expression in muscle is linked to reduced skeletal muscle index in
            sarcopenic patients
  JOURNAL   Aging Clin Exp Res 35 (12), 3073-3083 (2023)
   PUBMED   37943405
  REMARK    GeneRIF: 11-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene
            expression in muscle is linked to reduced skeletal muscle index in
            sarcopenic patients.
REFERENCE   3  (bases 1 to 1384)
  AUTHORS   Hawes,E.M., Boortz,K.A., Oeser,J.K., O'Rourke,M.L. and O'Brien,R.M.
  TITLE     G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity
  JOURNAL   J Mol Endocrinol 71 (4), e230070 (2023)
   PUBMED   37855366
  REMARK    GeneRIF: G6PC1 and G6PC2 influence G6P flux but not HSD11B1
            activity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1384)
  AUTHORS   Lee,Y.B., Hwang,H.J., Kim,E., Lim,S.H., Chung,C.H. and Choi,E.H.
  TITLE     Hyperglycemia-activated 11beta-hydroxysteroid dehydrogenase type 1
            increases endoplasmic reticulum stress and skin barrier dysfunction
  JOURNAL   Sci Rep 13 (1), 9206 (2023)
   PUBMED   37280272
  REMARK    GeneRIF: Hyperglycemia-activated 11beta-hydroxysteroid
            dehydrogenase type 1 increases endoplasmic reticulum stress and
            skin barrier dysfunction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1384)
  AUTHORS   Schutte,B.C., Bjork,B.C., Coppage,K.B., Malik,M.I., Gregory,S.G.,
            Scott,D.J., Brentzell,L.M., Watanabe,Y., Dixon,M.J. and Murray,J.C.
  TITLE     A preliminary gene map for the Van der Woude syndrome critical
            region derived from 900 kb of genomic sequence at 1q32-q41
  JOURNAL   Genome Res 10 (1), 81-94 (2000)
   PUBMED   10645953
REFERENCE   6  (bases 1 to 1384)
  AUTHORS   Ricketts,M.L., Verhaeg,J.M., Bujalska,I., Howie,A.J., Rainey,W.E.
            and Stewart,P.M.
  TITLE     Immunohistochemical localization of type 1 11beta-hydroxysteroid
            dehydrogenase in human tissues
  JOURNAL   J Clin Endocrinol Metab 83 (4), 1325-1335 (1998)
   PUBMED   9543163
REFERENCE   7  (bases 1 to 1384)
  AUTHORS   White,P.C., Mune,T. and Agarwal,A.K.
  TITLE     11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent
            mineralocorticoid excess
  JOURNAL   Endocr Rev 18 (1), 135-156 (1997)
   PUBMED   9034789
  REMARK    Review article
REFERENCE   8  (bases 1 to 1384)
  AUTHORS   Mune,T., Rogerson,F.M., Nikkila,H., Agarwal,A.K. and White,P.C.
  TITLE     Human hypertension caused by mutations in the kidney isozyme of 11
            beta-hydroxysteroid dehydrogenase
  JOURNAL   Nat Genet 10 (4), 394-399 (1995)
   PUBMED   7670488
REFERENCE   9  (bases 1 to 1384)
  AUTHORS   Whorwood,C.B., Mason,J.I., Ricketts,M.L., Howie,A.J. and
            Stewart,P.M.
  TITLE     Detection of human 11 beta-hydroxysteroid dehydrogenase isoforms
            using reverse-transcriptase-polymerase chain reaction and
            localization of the type 2 isoform to renal collecting ducts
  JOURNAL   Mol Cell Endocrinol 110 (1-2), R7-R12 (1995)
   PUBMED   7545619
REFERENCE   10 (bases 1 to 1384)
  AUTHORS   Tannin,G.M., Agarwal,A.K., Monder,C., New,M.I. and White,P.C.
  TITLE     The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure,
            tissue distribution, and chromosomal localization
  JOURNAL   J Biol Chem 266 (25), 16653-16658 (1991)
   PUBMED   1885595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012593.1, AL022398.1 and
            BM994393.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005525.3.
            
            Summary: The protein encoded by this gene is a microsomal enzyme
            that catalyzes the conversion of the stress hormone cortisol to the
            inactive metabolite cortisone. In addition, the encoded protein can
            catalyze the reverse reaction, the conversion of cortisone to
            cortisol. Too much cortisol can lead to central obesity, and a
            particular variation in this gene has been associated with obesity
            and insulin resistance in children. Mutations in this gene and H6PD
            (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are
            the cause of cortisone reductase deficiency. Alternate splicing
            results in multiple transcript variants encoding the same
            protein.[provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            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 :: BC012593.1, SRR5189652.121324.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367027.5/ ENSP00000355994.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-855               BC012593.1         5-859
            856-856             AL022398.1         13485-13485
            857-1313            BC012593.1         861-1317
            1314-1384           BM994393.1         39-109              c
FEATURES             Location/Qualifiers
     source          1..1384
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..1384
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /note="hydroxysteroid 11-beta dehydrogenase 1"
                     /db_xref="GeneID:3290"
                     /db_xref="HGNC:HGNC:5208"
                     /db_xref="MIM:600713"
     exon            1..185
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..976
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /EC_number="1.1.1.146"
                     /EC_number="1.1.1.201"
                     /note="short chain dehydrogenase/reductase family 26C
                     member 1; corticosteroid 11-beta-dehydrogenase isozyme 1;
                     7-oxosteroid reductase"
                     /codon_start=1
                     /product="11-beta-hydroxysteroid dehydrogenase 1"
                     /protein_id="NP_005516.1"
                     /db_xref="CCDS:CCDS1489.1"
                     /db_xref="GeneID:3290"
                     /db_xref="HGNC:HGNC:5208"
                     /db_xref="MIM:600713"
                     /translation="MAFMKKYLLPILGLFMAYYYYSANEEFRPEMLQGKKVIVTGASK
                     GIGREMAYHLAKMGAHVVVTARSKETLQKVVSHCLELGAASAHYIAGTMEDMTFAEQF
                     VAQAGKLMGGLDMLILNHITNTSLNLFHDDIHHVRKSMEVNFLSYVVLTVAALPMLKQ
                     SNGSIVVVSSLAGKVAYPMVAAYSASKFALDGFFSSIRKEYSVSRVNVSITLCVLGLI
                     DTETAMKAVSGIVHMQAAPKEECALEIIKGGALRQEEVYYDSSLWTTLLIRNPCRKIL
                     EFLYSTSYNMDRFINK"
     exon            186..316
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /inference="alignment:Splign:2.1.0"
     exon            317..428
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /inference="alignment:Splign:2.1.0"
     exon            429..614
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /inference="alignment:Splign:2.1.0"
     exon            615..758
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /inference="alignment:Splign:2.1.0"
     exon            759..1384
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1287..1292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /note="hexamer: AATAAA"
     polyA_site      1316
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /note="major polyA site"
     regulatory      1365..1370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /note="hexamer: CATAAA"
     polyA_site      1384
                     /gene="HSD11B1"
                     /gene_synonym="11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11;
                     HSD11B; HSD11L; SDR26C1"
                     /note="major polyA site"
ORIGIN      
        1 acaattcaga ggctgctgcc tgcttaggag gttgtagaaa gctctgtagg ttctctctgt
       61 gtgtcctaca ggagtcttca ggccagctcc ctgtcggatg gcttttatga aaaaatatct
      121 cctccccatt ctggggctct tcatggccta ctactactat tctgcaaacg aggaattcag
      181 accagagatg ctccaaggaa agaaagtgat tgtcacaggg gccagcaaag ggatcggaag
      241 agagatggct tatcatctgg cgaagatggg agcccatgtg gtggtgacag cgaggtcaaa
      301 agaaactcta cagaaggtgg tatcccactg cctggagctt ggagcagcct cagcacacta
      361 cattgctggc accatggaag acatgacctt cgcagagcaa tttgttgccc aagcaggaaa
      421 gctcatggga ggactagaca tgctcattct caaccacatc accaacactt ctttgaatct
      481 ttttcatgat gatattcacc atgtgcgcaa aagcatggaa gtcaacttcc tcagttacgt
      541 ggtcctgact gtagctgcct tgcccatgct gaagcagagc aatggaagca ttgttgtcgt
      601 ctcctctctg gctgggaaag tggcttatcc aatggttgct gcctattctg caagcaagtt
      661 tgctttggat gggttcttct cctccatcag aaaggaatat tcagtgtcca gggtcaatgt
      721 atcaatcact ctctgtgttc ttggcctcat agacacagaa acagccatga aggcagtttc
      781 tgggatagtc catatgcaag cagctccaaa ggaggaatgt gccctggaga tcatcaaagg
      841 gggagctctg cgccaagaag aagtgtatta tgacagctca ctctggacca ctcttctgat
      901 cagaaatcca tgcaggaaga tcctggaatt tctctactca acgagctata atatggacag
      961 attcataaac aagtaggaac tccctgaggg ctgggcatgc tgagggattt tgggactgtt
     1021 ctgtctcatg tttatctgag ctcttatcta tgaagacatc ttcccagagt gtccccagag
     1081 acatgcaagt catgggtcac acctgacaaa tggaaggagt tcctctaaca tttgcaaaat
     1141 ggaaatgtaa taataatgaa tgtcatgcac cgctgcagcc agcagttgta aaattgttag
     1201 taaacatagg tataattacc agatagttat attaaattta tatcttatat ataataatat
     1261 gtgatgatta atacaatatt aattataata aaggtcacat aaactttata aattcataac
     1321 tggtagctat aacttgagct tattcaggat ggtttcttta aaaccataaa ctgtacaaat
     1381 gaaa
//
