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

Gene ID: 345275, updated on 2-Nov-2024

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

See HSD17B13 in Genome Data Viewer
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_000004.12Genomic 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001136230.3NP_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:38241
    17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs
    COG0300
    Location:35247
    DltE; Short-chain dehydrogenase [General function prediction only]
  2. NM_178135.5NP_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:38277
    17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs

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_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)