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HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 [ Homo sapiens (human) ]

Gene ID: 51144, updated on 22-Feb-2020

Summary

Official Symbol
HSD17B12provided by HGNC
Official Full Name
hydroxysteroid 17-beta dehydrogenase 12provided by HGNC
Primary source
HGNC:HGNC:18646
See related
Ensembl:ENSG00000149084 MIM:609574
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
KAR; SDR12C1
Summary
This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
Expression
Ubiquitous expression in brain (RPKM 34.2), kidney (RPKM 34.0) and 25 other tissues See more
Orthologs

Genomic context

See HSD17B12 in Genome Data Viewer
Location:
11p11.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (43576476..43856617)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (43702108..43878169)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5565 Neighboring gene microRNA 670 Neighboring gene MIR670 host gene Neighboring gene microRNA 129-2 Neighboring gene ribosomal protein L23a pseudogene 63 Neighboring gene prohibitin pseudogene 2 Neighboring gene uncharacterized LOC107984328 Neighboring gene uncharacterized LOC105376644 Neighboring gene alkB homolog 3, alpha-ketoglutaratedependent dioxygenase Neighboring gene SEC14 like 1 pseudogene 1

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
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
NHGRI GWA Catalog
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
NHGRI GWA Catalog
Genome-wide association analysis identifies six new loci associated with forced vital capacity.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

  • Homologs of the HSD17B12 gene: The HSD17B12 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
  • Orthologs from Annotation Pipeline: 268 organisms have orthologs with human gene HSD17B12

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-oxo-arachidoyl-CoA reductase activity IEA
Inferred from Electronic Annotation
more info
 
3-oxo-behenoyl-CoA reductase activity IEA
Inferred from Electronic Annotation
more info
 
3-oxo-cerotoyl-CoA reductase activity IEA
Inferred from Electronic Annotation
more info
 
3-oxo-lignoceroyl-CoA reductase activity IEA
Inferred from Electronic Annotation
more info
 
collagen binding IEA
Inferred from Electronic Annotation
more info
 
estradiol 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
fibronectin binding IEA
Inferred from Electronic Annotation
more info
 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
estrogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
very-long-chain 3-oxoacyl-CoA reductase
Names
17-beta-HSD 12
17-beta-hydroxysteroid dehydrogenase 12
17beta-HSD type 12
3-ketoacyl-CoA reductase
estradiol 17-beta-dehydrogenase 12
short chain dehydrogenase/reductase family 12C member 1
steroid dehydrogenase homolog
NP_057226.1
XP_011518458.1
XP_016873370.1
XP_024304339.1
XP_024304340.1
XP_024304341.1

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_016142.3NP_057226.1  very-long-chain 3-oxoacyl-CoA reductase

    See identical proteins and their annotated locations for NP_057226.1

    Status: VALIDATED

    Source sequence(s)
    AF078850, BC012043, BP359822
    Consensus CDS
    CCDS7905.1
    UniProtKB/Swiss-Prot
    Q53GQ0
    Related
    ENSP00000278353.4, ENST00000278353.10
    Conserved Domains (3) summary
    cd05356
    Location:50289
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    COG0300
    Location:50300
    DltE; Short-chain dehydrogenase [General function prediction only]
    cl21454
    Location:383
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    43576476..43856617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448573.1XP_024304341.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    Conserved Domains (1) summary
    cd05356
    Location:1215
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  2. XM_024448571.1XP_024304339.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    Conserved Domains (1) summary
    cd05356
    Location:1215
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  3. XM_024448572.1XP_024304340.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    Conserved Domains (1) summary
    cd05356
    Location:1215
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  4. XM_011520156.1XP_011518458.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    Conserved Domains (1) summary
    cd05356
    Location:1215
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  5. XM_017017881.1XP_016873370.1  very-long-chain 3-oxoacyl-CoA reductase isoform X1

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