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

Gene ID: 374875, updated on 2-Nov-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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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)

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

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