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

    Gene ID: 51171, updated on 3-Apr-2024

    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
    mouse all
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    Genomic context

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    Location:
    19q13.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48813018..48836491, complement)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 14906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14907 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 ATAC-STARR-seq lymphoblastoid active region 14908 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 ATAC-STARR-seq lymphoblastoid silent region 10904 Neighboring gene MPRA-validated peak3541 silencer Neighboring gene pleckstrin homology domain containing A4 Neighboring gene Sharpr-MPRA regulatory region 3566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10905 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 ATAC-STARR-seq lymphoblastoid active region 14913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14914 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
    		  
    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
    		  
    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
    		  
    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_10

    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

    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

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

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