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    HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 3290, updated on 21-Dec-2017
    Official Symbol
    HSD11B1provided by HGNC
    Official Full Name
    hydroxysteroid 11-beta dehydrogenase 1provided by HGNC
    Primary source
    HGNC:HGNC:5208
    See related
    Ensembl:ENSG00000117594 MIM:600713; Vega:OTTHUMG00000036481
    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
    HDL; 11-DH; HSD11; HSD11B; HSD11L; CORTRD2; SDR26C1; 11-beta-HSD1
    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]
    Expression
    Biased expression in liver (RPKM 186.4), placenta (RPKM 27.2) and 1 other tissue See more
    Orthologs
    Location:
    1q32.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (209686180..209734950)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (209859525..209908295)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene laminin subunit beta 3 Neighboring gene microRNA 4260 Neighboring gene uncharacterized LOC101930114 Neighboring gene G0/G1 switch 2 Neighboring gene adenosine A2b receptor pseudogene 1 Neighboring gene TRAF3 interacting protein 3 Neighboring gene chromosome 1 open reading frame 74

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC13539

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    11-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    glucocorticoid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    Preferred Names
    corticosteroid 11-beta-dehydrogenase isozyme 1
    Names
    short chain dehydrogenase/reductase family 26C member 1
    NP_001193670.1
    NP_005516.1
    NP_861420.1

    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_012081.1 RefSeqGene

      Range
      4976..53746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206741.1NP_001193670.1  corticosteroid 11-beta-dehydrogenase isozyme 1

      See identical proteins and their annotated locations for NP_001193670.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK313973, AL031316, BX345837, CB530075, CF597174
      Consensus CDS
      CCDS1489.1
      UniProtKB/Swiss-Prot
      P28845
      UniProtKB/TrEMBL
      X5D2L1
      Related
      ENSP00000355995.1, ENST00000367028.6
      Conserved Domains (1) summary
      cd05332
      Location:32279
      11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
    2. NM_005525.3NP_005516.1  corticosteroid 11-beta-dehydrogenase isozyme 1

      See identical proteins and their annotated locations for NP_005516.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL022398, BC012593, BM994393, CF596989
      Consensus CDS
      CCDS1489.1
      UniProtKB/Swiss-Prot
      P28845
      UniProtKB/TrEMBL
      X5D2L1
      Related
      ENSP00000355994.3, OTTHUMP00000034649, ENST00000367027.4, OTTHUMT00000088742
      Conserved Domains (1) summary
      cd05332
      Location:32279
      11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
    3. NM_181755.2NP_861420.1  corticosteroid 11-beta-dehydrogenase isozyme 1

      See identical proteins and their annotated locations for NP_861420.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK313973, AL031316, CB530075, CF597174
      Consensus CDS
      CCDS1489.1
      UniProtKB/Swiss-Prot
      P28845
      UniProtKB/TrEMBL
      X5D2L1
      Conserved Domains (1) summary
      cd05332
      Location:32279
      11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      209686180..209734950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      211131921..211180673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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