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

Gene ID: 345275, updated on 13-Mar-2020

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
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
SCDR9; NIIL497; SDR16C3; HMFN0376
Expression
Biased expression in liver (RPKM 126.6) and fat (RPKM 7.3) See more
Orthologs

Genomic context

See HSD17B13 in Genome Data Viewer
Location:
4q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (87303794..87322882, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88224941..88244056, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene kelch like family member 8 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 Neighboring gene microRNA 5705 Neighboring gene Sharpr-MPRA regulatory region 11108 Neighboring gene hydroxysteroid 17-beta dehydrogenase 11 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
  • 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138508, MGC138510

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
lipid droplet organization TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
short chain dehydrogenase/reductase family 16C member 3
short-chain dehydrogenase/reductase 9

NCBI Reference Sequences (RefSeq)

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
    Q7Z5P4
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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