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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
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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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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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