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    HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 [ Homo sapiens (human) ]

    Gene ID: 345275, updated on 11-Apr-2024

    Summary

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    Official Symbol
    HSD17B13provided by HGNC
    Official Full Name
    hydroxysteroid 17-beta dehydrogenase 13provided by HGNC
    Primary source
    HGNC:HGNC:18685
    See related
    Ensembl:ENSG00000170509 MIM:612127; AllianceGenome:HGNC:18685
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLDP; SCDR9; NIIL497; SDR16C3; HMFN0376
    Summary
    Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. Acts upstream of or within positive regulation of lipid biosynthetic process. Located in lipid droplet. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver (RPKM 126.6) and fat (RPKM 7.3) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (87303794..87322882, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (90632830..90651922, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88224946..88244034, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene kelch like family member 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:88140772-88141384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15557 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 Neighboring gene Sharpr-MPRA regulatory region 2168 Neighboring gene microRNA 5705 Neighboring gene Sharpr-MPRA regulatory region 11108 Neighboring gene hydroxysteroid 17-beta dehydrogenase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:88312635-88313207 Neighboring gene RNA, 7SL, cytoplasmic 681, pseudogene Neighboring gene mitochondrial ribosomal protein L19 pseudogene

    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
    • 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. Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients. Gil-Gómez A, et al. Int J Mol Sci, 2022 Oct 6. PMID 36233142, Free PMC Article
    2. HSD17B13 and other liver fat-modulating genes predict development of hepatocellular carcinoma among HCV-positive cirrhotics with and without viral clearance after DAA treatment. Burlone ME, et al. Clin J Gastroenterol, 2022 Apr. PMID 35098490
    3. Association of HSD17B13 rs72613567: TA allelic variant with liver disease: review and meta-analysis. Tang S, et al. BMC Gastroenterol, 2021 Dec 20. PMID 34930143, Free PMC Article
    4. The HSD17B13 rs72613567 variant is associated with lower levels of albuminuria in patients with biopsy-proven nonalcoholic fatty liver disease. Sun DQ, et al. Nutr Metab Cardiovasc Dis, 2021 Jun 7. PMID 33853719
    5. Loss-of-function HSD17B13 variants, non-alcoholic steatohepatitis and adverse liver outcomes: Results from a multi-ethnic Asian cohort. Ting YW, et al. Clin Mol Hepatol, 2021 Jul. PMID 33618508, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Protection Conferred by HSD17B13 rs72613567 on Hepatic Fibrosis Is Likely Mediated by Lowering Ballooning and Portal Inflammation.
      Title: The Protection Conferred by HSD17B13 rs72613567 on Hepatic Fibrosis Is Likely Mediated by Lowering Ballooning and Portal Inflammation.
    2. Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.
      Title: Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.
    3. Structural basis of lipid-droplet localization of 17-beta-hydroxysteroid dehydrogenase 13.
      Title: Structural basis of lipid-droplet localization of 17-beta-hydroxysteroid dehydrogenase 13.
    4. The rs72613567:TA polymorphism in HSD17B13 is associated with survival benefit after development of hepatocellular carcinoma.
      Title: The rs72613567:TA polymorphism in HSD17B13 is associated with survival benefit after development of hepatocellular carcinoma.
    5. MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery.
      Title: MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery.
    6. Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients.
      Title: Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients.
    7. Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms.
      Title: Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms.
    8. HSD17B13 and other liver fat-modulating genes predict development of hepatocellular carcinoma among HCV-positive cirrhotics with and without viral clearance after DAA treatment.
      Title: HSD17B13 and other liver fat-modulating genes predict development of hepatocellular carcinoma among HCV-positive cirrhotics with and without viral clearance after DAA treatment.
    9. The Protection Conferred by HSD17B13 rs72613567 Polymorphism on Risk of Steatohepatitis and Fibrosis May Be Limited to Selected Subgroups of Patients With NAFLD.
      Title: The Protection Conferred by HSD17B13 rs72613567 Polymorphism on Risk of Steatohepatitis and Fibrosis May Be Limited to Selected Subgroups of Patients With NAFLD.
    10. Association of HSD17B13 rs72613567: TA allelic variant with liver disease: review and meta-analysis.
      Title: Association of HSD17B13 rs72613567: TA allelic variant with liver disease: review and meta-analysis.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    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

    Associated conditions

    Description Tests
    Fatty liver disease, protection from
    MedGen: C5774254 OMIM: 620116 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138508, MGC138510

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables all-trans-retinol dehydrogenase (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables estradiol 17-beta-dehydrogenase [NAD(P)] activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables steroid dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of lipid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    17-beta-hydroxysteroid dehydrogenase 13
    Names
    17-beta hydroxysteroid dehydrogenase
    17-beta-HSD 13
    hepatic retinol/retinal dehydrogenase
    short chain dehydrogenase/reductase family 16C member 3
    short-chain dehydrogenase/reductase 9
    NP_001129702.1
    NP_835236.2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001136230.3 → NP_001129702.1  17-beta-hydroxysteroid dehydrogenase 13 isoform B

      See identical proteins and their annotated locations for NP_001129702.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (B) lacks an in-frame exon in the central coding region, compared to variant A. The encoded isoform (B) is shorter, compared to isoform A.
      Source sequence(s)
      AY186250
      Consensus CDS
      CCDS47097.1
      UniProtKB/Swiss-Prot
      Q7Z5P4
      Related
      ENSP00000305438.6, ENST00000302219.10
      Conserved Domains (2) summary
      cd05339
      Location:38 → 241
      17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs
      COG0300
      Location:35 → 247
      DltE; Short-chain dehydrogenase [General function prediction only]

    2. NM_178135.5 → NP_835236.2  17-beta-hydroxysteroid dehydrogenase 13 isoform A precursor

      See identical proteins and their annotated locations for NP_835236.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AB073347, AY186249, AY358575
      Consensus CDS
      CCDS3618.1
      UniProtKB/Swiss-Prot
      A8K9R9, Q2M1L5, Q7Z5P4, Q86W22, Q86W23
      Related
      ENSP00000333300.4, ENST00000328546.5
      Conserved Domains (1) summary
      cd05339
      Location:38 → 277
      17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      87303794..87322882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      90632830..90651922 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5P4.1 GenPept UniProtKB/Swiss-Prot:Q7Z5P4

    Gene LinkOut

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

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