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

Gene ID: 51144, updated on 3-Nov-2024

Summary

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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; AllianceGenome:HGNC:18646
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
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Genomic context

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See HSD17B12 in Genome Data Viewer
Location:
11p11.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (43556721..43856615)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (43731842..44012332)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (43702288..43878165)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 17 Neighboring gene peptidylprolyl isomerase A pseudogene 41 Neighboring gene CTBP2 pseudogene 6 Neighboring gene potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43596905-43597647 Neighboring gene Sharpr-MPRA regulatory region 5565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43602229-43603028 Neighboring gene MIR670 host gene Neighboring gene microRNA 670 Neighboring gene microRNA 129-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4643 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:43702143-43702708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4645 Neighboring gene ribosomal protein L23a pseudogene 63 Neighboring gene MPRA-validated peak1263 silencer Neighboring gene PHB1 pseudogene 2 Neighboring gene uncharacterized LOC107984328 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:43852011-43853210 Neighboring gene uncharacterized LOC105376644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4646 Neighboring gene SEC14 like 1 pseudogene 1 Neighboring gene alkB homolog 3, alpha-ketoglutarate dependent dioxygenase

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 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?
  1. Genetic variants in CYP2B6 and HSD17B12 associated with risk of squamous cell carcinoma of the head and neck.
    Title: Genetic variants in CYP2B6 and HSD17B12 associated with risk of squamous cell carcinoma of the head and neck.
  2. Association of genetic polymorphisms with local steroid metabolism in human benign breasts.
    Title: Association of genetic polymorphisms with local steroid metabolism in human benign breasts.
  3. Functional genetic variant of HSD17B12 in the fatty acid biosynthesis pathway predicts the outcome of colorectal cancer.
    Title: Functional genetic variant of HSD17B12 in the fatty acid biosynthesis pathway predicts the outcome of colorectal cancer.
  4. An Integrative Phenotype-Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies HSD17B12 as a Candidate Gene for Obesity and Type 2 Diabetes.
    Title: An Integrative Phenotype-Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies HSD17B12 as a Candidate Gene for Obesity and Type 2 Diabetes.
  5. Very-long-chain fatty acid metabolic capacity of 17-beta-hydroxysteroid dehydrogenase type 12 (HSD17B12) promotes replication of hepatitis C virus and related flaviviruses.
    Title: Very-long-chain fatty acid metabolic capacity of 17-beta-hydroxysteroid dehydrogenase type 12 (HSD17B12) promotes replication of hepatitis C virus and related flaviviruses.
  6. Silencing of hydroxysteroid 17-beta dehydrogenase 12 essentially catalyzes the 3-ketoacyl-CoA reduction step in long-chain fatty acids production, modulates proliferation and migration of breast cancer cells in a cell line-dependent manner.
    Title: Impact of 17β-HSD12, the 3-ketoacyl-CoA reductase of long-chain fatty acid synthesis, on breast cancer cell proliferation and migration.
  7. Study identified two independent SNPs of ELOVL2 rs3734398 T>C and HSD17B12 rs11037684 A>G that predicted cutaneous melanoma disease-specific survival. The ELOVL2 rs3734398 variant CC genotype was found to be associated with a significantly increased mRNA expression level.
    Title: Genetic variants in ELOVL2 and HSD17B12 predict melanoma-specific survival.
  8. Among lung-expressing enzymes only HSD17beta12 exhibited activity against tobacco-specific carcinogen nitrosamine NNK. siRNA knock-down of HSD17beta12 resulted in significant decreases in (R)-NNAL-formation activity in HEK293 cells. These data suggest that both cytosolic and microsomal enzymes are active against NNK and that HSD17beta12 is the major active microsomal reductase that contributes to (R)-NNAL formation in ...
    Title: Carbonyl reduction of NNK by recombinant human lung enzymes: identification of HSD17β12 as the reductase important in (R)-NNAL formation in human lung.
  9. The expression of HSD17B12 increased along with the severity of ovarian cancer, and the expression mimicked COX-2 expression and intensity. This further suggests the involvement of HSD17B12 in AA production, and its coexpression with COX-2 indicates a role for the enzyme in the increased prostaglandin production during ovarian cancer progression.
    Title: The Expression of HSD17B12 Is Associated with COX-2 Expression and Is Increased in High-Grade Epithelial Ovarian Cancer.
  10. Significant associations have been found between CpG sites and patient sex, including DNA methylation in CASP6, a gene that may respond to estradiol treatment, and in HSD17B12, which encodes a sex steroid hormone.
    Title: Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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

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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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables collagen binding IEA
Inferred from Electronic Annotation
more info
  
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
Inferred from Electronic Annotation
more info
  
enables fibronectin binding IEA
Inferred from Electronic Annotation
more info
  
enables heparin binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables very-long-chain 3-oxoacyl-CoA reductase activity EXP
Inferred from Experiment
more info
 PubMed 
enables very-long-chain 3-oxoacyl-CoA reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in estrogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
  
involved_in fatty acid elongation, saturated fatty acid IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in positive regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
  
part_of fatty acid elongase complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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
XP_047283030.1
XP_054225030.1
XP_054225031.1
XP_054225032.1
XP_054225033.1

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_016142.3 → NP_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
    A8K9B0, D3DR23, Q53GQ0, Q96EA9, Q96JU2, Q9Y6G8
    UniProtKB/TrEMBL
    B3KQJ0
    Related
    ENSP00000278353.4, ENST00000278353.10
    Conserved Domains (3) summary
    cd05356
    Location:50 → 289
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    COG0300
    Location:50 → 300
    DltE; Short-chain dehydrogenase [General function prediction only]
    cl21454
    Location:3 → 83
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    43556721..43856615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448573.2 → XP_024304341.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    Conserved Domains (1) summary
    cd05356
    Location:1 → 215
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

  2. XM_047427074.1 → XP_047283030.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

  3. XM_024448571.2 → XP_024304339.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    Conserved Domains (1) summary
    cd05356
    Location:1 → 215
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

  4. XM_024448572.2 → XP_024304340.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    Conserved Domains (1) summary
    cd05356
    Location:1 → 215
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

  5. XM_017017881.2 → XP_016873370.1  very-long-chain 3-oxoacyl-CoA reductase isoform X1

    UniProtKB/TrEMBL
    B4DWS6

  6. XM_011520156.2 → XP_011518458.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    Conserved Domains (1) summary
    cd05356
    Location:1 → 215
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    43731842..44012332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369056.1 → XP_054225031.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

  2. XM_054369057.1 → XP_054225032.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

  3. XM_054369055.1 → XP_054225030.1  very-long-chain 3-oxoacyl-CoA reductase isoform X1

  4. XM_054369058.1 → XP_054225033.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53GQ0.2 GenPept UniProtKB/Swiss-Prot:Q53GQ0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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