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

Summary

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, Dec 2024]
Expression: Biased expression in liver (RPKM 126.6) and fat (RPKM 7.3) See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (87303794..87322882, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (90632830..90651922, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (88224946..88244034, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Integrating genetic and socioeconomic data to predict the progression of nonalcoholic fatty liver disease.
Title: Integrating genetic and socioeconomic data to predict the progression of nonalcoholic fatty liver disease.
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.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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 EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:483697

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 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

EC 1.1.1.105

EC 1.1.1.62

NP_835236.2

EC 1.1.1.105

EC 1.1.1.62

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)

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]
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