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    HSD11B1L hydroxysteroid 11-beta dehydrogenase 1 like [ Homo sapiens (human) ]

    Gene ID: 374875, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HSD11B1Lprovided by HGNC
    Official Full Name
    hydroxysteroid 11-beta dehydrogenase 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:30419
    See related
    Ensembl:ENSG00000167733 AllianceGenome:HGNC:30419
    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
    HSD3; HSD1L; 11-DH3; SCDR10; SCDR10B; SDR26C2; 11-beta-HSD3
    Summary
    This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
    Expression
    Broad expression in brain (RPKM 7.1), testis (RPKM 2.5) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See HSD11B1L in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5681027..5688522)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5667713..5675208)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5681038..5688533)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9926 Neighboring gene mitochondrial contact site and cristae organizing system subunit 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9929 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:5687727-5688226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5690083-5690608 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5690609-5691134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5691135-5691660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13814 Neighboring gene ribosomal protein L36 Neighboring gene lon peptidase 1, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5717772-5718288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5718289-5718804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9931 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5719838-5720354 Neighboring gene cation channel sperm associated auxiliary subunit delta

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Hydroxysteroid dehydrogenase HSD1L is localised to the pituitary-gonadal axis of primates. Bird AD, et al. Endocr Connect, 2017 Oct. PMID 28871060, Free PMC Article
    2. Isolation and characterization of novel human short-chain dehydrogenase/reductase SCDR10B which is highly expressed in the brain and acts as hydroxysteroid dehydrogenase. Huang C, et al. Acta Biochim Pol, 2009. PMID 19436836
    3. Interaction of a Novel Alternatively Spliced Variant of HSD11B1L with Parkin Enhances the Carcinogenesis Potential of Glioblastoma: Peiminine Interferes with This Interaction. Fu RH, et al. Cells, 2023 Mar 14. PMID 36980235, Free PMC Article
    4. Evolution of 11beta-hydroxysteroid dehydrogenase-type 1 and 11beta-hydroxysteroid dehydrogenase-type 3. Baker ME. FEBS Lett, 2010 Jun 3. PMID 20350543
    5. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction of a Novel Alternatively Spliced Variant of HSD11B1L with Parkin Enhances the Carcinogenesis Potential of Glioblastoma: Peiminine Interferes with This Interaction.
      Title: Interaction of a Novel Alternatively Spliced Variant of HSD11B1L with Parkin Enhances the Carcinogenesis Potential of Glioblastoma: Peiminine Interferes with This Interaction.
    2. cloning, purification, and characterization of SCDR10B; highly expressed in brain (especially in hippocampal neurons); up-regulated in lung cancer cell lines and lung cancer tissue
      Title: Isolation and characterization of novel human short-chain dehydrogenase/reductase SCDR10B which is highly expressed in the brain and acts as hydroxysteroid dehydrogenase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: RPL36

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    hydroxysteroid 11-beta-dehydrogenase 1-like protein
    Names
    11-beta-hydroxysteroid dehydrogenase type 3
    short chain dehydrogenase/reductase 10
    short chain dehydrogenase/reductase family 26C member 2
    NP_001254797.1
    NP_001254798.1
    NP_001254799.1
    NP_001254800.1
    NP_940935.1
    NP_941993.1
    NP_941994.1
    NP_941995.1
    NP_941996.1
    NP_941997.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001267868.2 → NP_001254797.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g) represents the longest transcript and the longest protein (isoform g).
      Source sequence(s)
      AC011499, AI871311, AK308206
      Consensus CDS
      CCDS74266.1
      UniProtKB/TrEMBL
      A0A087WWR3
      Related
      ENSP00000480443.1, ENST00000616276.4
      Conserved Domains (3) summary
      PRK08251
      Location:78 → 302
      PRK08251; short chain dehydrogenase; Provisional
      pfam13900
      Location:3 → 26
      GVQW; Putative domain of unknown function
      cl21454
      Location:74 → 302
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001267869.2 → NP_001254798.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform d

      See identical proteins and their annotated locations for NP_001254798.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (j) has multiple differences in the coding region, and initiates translation at an alternate downstream in-frame start codon, compared to variant g. The encoded isoform (d) is shorter than isoform g. Variants d and j encode the same protein.
      Source sequence(s)
      AC011499, BC094798
      Consensus CDS
      CCDS58642.1
      UniProtKB/Swiss-Prot
      Q7Z5J1
      Related
      ENSP00000464454.1, ENST00000581893.5
      Conserved Domains (1) summary
      cl25409
      Location:1 → 121
      SDR; Short-chain dehydrogenases/reductases (SDR)

    3. NM_001267870.2 → NP_001254799.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (h) has multiple differences in the coding region, one of which results in initiation of translation at a downstream in-frame start codon, compared to variant g. An additional difference results in a frameshift. The encoded protein (isoform h) has a distinct C-terminus and is shorter than isoform g.
      Source sequence(s)
      AY313894, CX865680, DA343367
      UniProtKB/TrEMBL
      J3QKQ3
      Related
      ENSP00000463187.1, ENST00000579559.1

    4. NM_001267871.2 → NP_001254800.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform i

      See identical proteins and their annotated locations for NP_001254800.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (i) has multiple differences in the coding region, one of which results in initiation of translation at a downstream in-frame start codon, compared to variant g. An additional difference results in a frameshift. The encoded protein (isoform i) has a distinct C-terminus and is shorter than isoform g.
      Source sequence(s)
      AY313896
      Consensus CDS
      CCDS58641.1
      UniProtKB/Swiss-Prot
      Q7Z5J1
      Related
      ENSP00000463073.1, ENST00000577917.5
      Conserved Domains (1) summary
      cl21454
      Location:25 → 148
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    5. NM_198533.3 → NP_940935.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform e precursor

      See identical proteins and their annotated locations for NP_940935.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) lacks an exon and a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant g. This variant (e) also uses an alternate splice site in the 3' coding region, which results in a frameshift. The encoded protein (isoform e) has a distinct C-terminus and is shorter than isoform g.
      Source sequence(s)
      AY313894, DA343367
      Consensus CDS
      CCDS45931.1
      UniProtKB/Swiss-Prot
      Q05D45, Q52LF4, Q7Z5I9, Q7Z5J0, Q7Z5J1, Q7Z5P5, Q7Z5P6, Q7Z5P7, Q7Z5P8
      Related
      ENSP00000407154.2, ENST00000423665.6
      Conserved Domains (2) summary
      PRK06138
      Location:27 → 247
      PRK06138; short chain dehydrogenase; Provisional
      cl21454
      Location:27 → 229
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    6. NM_198704.3 → NP_941993.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform f

      See identical proteins and their annotated locations for NP_941993.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) has multiple differences in the coding region, one of which results in initiation of translation at a downstream in-frame start codon, compared to variant g. An additional difference results in a frameshift. The encoded protein (isoform f) has a distinct C-terminus and is shorter than isoform g.
      Source sequence(s)
      AY313895
      Consensus CDS
      CCDS45932.1
      UniProtKB/Swiss-Prot
      Q7Z5J1
      Related
      ENSP00000398955.2, ENST00000411793.6
      Conserved Domains (1) summary
      cl21454
      Location:1 → 95
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    7. NM_198705.3 → NP_941994.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform a

      See identical proteins and their annotated locations for NP_941994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) has multiple differences in the coding region, one of which results in initiation of translation at a downstream in-frame start codon, compared to variant g. The encoded protein (isoform a) is shorter than isoform g.
      Source sequence(s)
      AY268351
      Consensus CDS
      CCDS12144.1
      UniProtKB/Swiss-Prot
      Q7Z5J1
      Related
      ENSP00000301382.4, ENST00000301382.8
      Conserved Domains (1) summary
      cl21454
      Location:25 → 174
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    8. NM_198706.3 → NP_941995.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform b

      See identical proteins and their annotated locations for NP_941995.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) lacks an exon and a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant g. The encoded isoform (b) is shorter than isoform g.
      Source sequence(s)
      AY268352, DA343367
      Consensus CDS
      CCDS12145.1
      UniProtKB/Swiss-Prot
      Q7Z5J1
      Related
      ENSP00000340436.2, ENST00000339423.7
      Conserved Domains (2) summary
      PRK08251
      Location:31 → 255
      PRK08251; short chain dehydrogenase; Provisional
      cl21454
      Location:27 → 255
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    9. NM_198707.3 → NP_941996.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform c

      See identical proteins and their annotated locations for NP_941996.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) lacks two exons and a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform g.
      Source sequence(s)
      AY268353, DA343367
      Consensus CDS
      CCDS12146.1
      UniProtKB/Swiss-Prot
      Q7Z5J1
      Related
      ENSP00000343451.2, ENST00000342970.6
      Conserved Domains (1) summary
      cl21454
      Location:1 → 168
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    10. NM_198708.3 → NP_941997.1  hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform d

      See identical proteins and their annotated locations for NP_941997.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) has multiple differences in the coding region, and initiates translation at an alternate downstream in-frame start codon, compared to variant g. The encoded isoform (d) is shorter than isoform g. Variants d and j encode the same protein.
      Source sequence(s)
      AY268354, DA343367
      Consensus CDS
      CCDS58642.1
      UniProtKB/Swiss-Prot
      Q7Z5J1
      Conserved Domains (1) summary
      cl25409
      Location:1 → 121
      SDR; Short-chain dehydrogenases/reductases (SDR)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      5681027..5688522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      5667713..5675208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5J1.1 GenPept UniProtKB/Swiss-Prot:Q7Z5J1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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