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HSD17B14 hydroxysteroid 17-beta dehydrogenase 14 [ Homo sapiens (human) ]

Gene ID: 51171, updated on 7-Sep-2023

Summary

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Official Symbol
HSD17B14provided by HGNC
Official Full Name
hydroxysteroid 17-beta dehydrogenase 14provided by HGNC
Primary source
HGNC:HGNC:23238
See related
Ensembl:ENSG00000087076 MIM:612832; AllianceGenome:HGNC:23238
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
DHRS10; SDR47C1; retSDR3
Summary
17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
Expression
Broad expression in kidney (RPKM 32.8), ovary (RPKM 12.9) and 14 other tissues See more
Orthologs
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Genomic context

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See HSD17B14 in Genome Data Viewer
Location:
19q13.33
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48813018..48836491, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51808041..51831370, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49316275..49339748, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49296757-49297257 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49299377-49300012 Neighboring gene RNA, U6 small nuclear 317, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49301825-49302433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49302434-49303042 Neighboring gene branched chain amino acid transaminase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49309749-49310420 Neighboring gene uncharacterized LOC105372432 Neighboring gene Sharpr-MPRA regulatory region 11839 Neighboring gene CRISPRi-FlowFISH-validated BCAT2 regulatory element Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49316517-49317128 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 1 Neighboring gene pleckstrin homology domain containing A4 Neighboring gene Sharpr-MPRA regulatory region 3566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49374623-49375235 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49375236-49375847 Neighboring gene CRISPRi-FlowFISH-validated BAX, FTL and NUCB1 regulatory elements Neighboring gene CRISPRi-FlowFISH-validated FTL and NUCB1 regulatory element 1 Neighboring gene protein phosphatase 1 regulatory subunit 15A

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
  • 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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Related articles in PubMed

  1. Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes. Mychaleckyj JC, et al. J Am Soc Nephrol, 2021 Oct. PMID 34261756, Free PMC Article
  2. Mutational and structural studies uncover crucial amino acids determining activity and stability of 17β-HSD14. Badran MJ, et al. J Steroid Biochem Mol Biol, 2019 May. PMID 30836176
  3. 17β-Hydroxysteroid dehydrogenase type 14 is a predictive marker for tamoxifen response in oestrogen receptor positive breast cancer. Sivik T, et al. PLoS One, 2012. PMID 22792371, Free PMC Article
  4. Structural and biochemical characterization of human orphan DHRS10 reveals a novel cytosolic enzyme with steroid dehydrogenase activity. Lukacik P, et al. Biochem J, 2007 Mar 15. PMID 17067289, Free PMC Article
  5. Short-chain dehydrogenases/reductases in retina. Haeseleer F, et al. Methods Enzymol, 2000. PMID 10800688

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes.
    Title: Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes.
  2. Five new variants of HSD17B14 characterized by crystallography and enzyme kinetics. Tyr253' from the adjacent monomer ties the two monomers together. Disulfide bridge formed by Cys255 and Cys255' is not crucial for dimer stabilization.
    Title: Mutational and structural studies uncover crucial amino acids determining activity and stability of 17β-HSD14.
  3. Results show that tumoural expression levels of 17betaHSD14 can predict the outcome of adjuvant tamoxifen treatment in terms of local recurrence-free survival in patients with lymph node-negative ER+ breast cancer.
    Title: 17β-Hydroxysteroid dehydrogenase type 14 is a predictive marker for tamoxifen response in oestrogen receptor positive breast cancer.
  4. crystal structure of the DHRS10 apoenzyme exhibits secondary structure of the SDR (short-chain dehydrogenase/reductase) family
    Title: Structural and biochemical characterization of human orphan DHRS10 reveals a novel cytosolic enzyme with steroid dehydrogenase activity.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 estradiol 17-beta-dehydrogenase [NAD(P)] activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables testosterone 17-beta-dehydrogenase (NADP+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in steroid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in steroid catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
17-beta-hydroxysteroid dehydrogenase 14
Names
17-beta-HSD 14
17-beta-hydroxysteroid dehydrogenase DHRS10
dehydrogenase/reductase (SDR family) member 10
retinal short-chain dehydrogenase/reductase 3
retinal short-chain dehydrogenase/reductase retSDR3
short chain dehydrogenase/reductase family 47C member 1
testicular tissue protein Li 52
NP_057330.2
XP_005259026.1
XP_047294853.1
XP_054177123.1
XP_054177124.1

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_016246.3 → NP_057330.2  17-beta-hydroxysteroid dehydrogenase 14

    See identical proteins and their annotated locations for NP_057330.2

    Status: VALIDATED

    Source sequence(s)
    BC006283, BC006294, BI602824
    Consensus CDS
    CCDS12736.1
    UniProtKB/Swiss-Prot
    Q9BPX1, Q9UKU3
    UniProtKB/TrEMBL
    A0A140VJH8, M0R2R3
    Related
    ENSP00000263278.3, ENST00000263278.9
    Conserved Domains (1) summary
    cd08933
    Location:1 → 256
    RDH_SDR_c; retinal dehydrogenase-like, classical (c) SDR

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    48813018..48836491 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258969.5 → XP_005259026.1  17-beta-hydroxysteroid dehydrogenase 14 isoform X1

    UniProtKB/TrEMBL
    M0QY35
    Related
    ENSP00000469557.1, ENST00000595764.1
    Conserved Domains (1) summary
    cl21454
    Location:1 → 181
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. XM_047438897.1 → XP_047294853.1  17-beta-hydroxysteroid dehydrogenase 14 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    51808041..51831370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321148.1 → XP_054177123.1  17-beta-hydroxysteroid dehydrogenase 14 isoform X1

    UniProtKB/TrEMBL
    M0QY35

  2. XM_054321149.1 → XP_054177124.1  17-beta-hydroxysteroid dehydrogenase 14 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BPX1.1 GenPept UniProtKB/Swiss-Prot:Q9BPX1

Gene LinkOut

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