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    HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 [ Homo sapiens (human) ]

    Gene ID: 51478, updated on 3-Nov-2024

    Summary

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    Official Symbol
    HSD17B7provided by HGNC
    Official Full Name
    hydroxysteroid 17-beta dehydrogenase 7provided by HGNC
    Primary source
    HGNC:HGNC:5215
    See related
    Ensembl:ENSG00000132196 MIM:606756; AllianceGenome:HGNC:5215
    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
    PRAP; SDR37C1
    Summary
    HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
    Expression
    Ubiquitous expression in adrenal (RPKM 6.0), lymph node (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HSD17B7 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162790702..162812823)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (162134938..162157387)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162760492..162782613)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1494 Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2011 Neighboring gene discoidin domain receptor tyrosine kinase 2 Neighboring gene Sharpr-MPRA regulatory region 4859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1495 Neighboring gene MPRA-validated peak435 silencer Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162792375-162792980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2012 Neighboring gene Sharpr-MPRA regulatory region 14373 Neighboring gene coiled-coil domain containing 190 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:162947871-162948547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162948548-162949223 Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like

    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. HSD17B7 gene in self-renewal and oncogenicity of keratinocytes from Black versus White populations.
      Title: HSD17B7 gene in self-renewal and oncogenicity of keratinocytes from Black versus White populations.
    2. Inhibition of 17beta-HSD7can provide a new basis for the design of combined endocrine therapy for breast cancer by controlling E2 and DHT, while up-regulating AR expression and stably controlling expression of ERalpha.
      Title: Mutual regulations and breast cancer cell control by steroidogenic enzymes: Dual sex-hormone receptor modulation upon 17β-HSD7 inhibition.
    3. Substrate affinity of 17beta-hydroxysteroid dehydrogenase type 7 toward estrone and 5alpha-dihydrotestosterone are similar.
      Title: The dual sex hormone specificity for human reductive 17β-hydroxysteroid dehydrogenase type 7: Synergistic function in estrogen and androgen control.
    4. Inhibition of 17beta-HSD 7 modulates breast cancer protein profile and enhances apoptosis by down-regulating GRP78.
      Title: Inhibition of 17beta-hydroxysteroid dehydrogenase type 7 modulates breast cancer protein profile and enhances apoptosis by down-regulating GRP78.
    5. Substrate inhibition of 17beta-HSD1 in tumor epithelial cells and regulation of 17beta-HSD7 by 17beta-HSD1 knockdown has been demonstrated.
      Title: Substrate inhibition of 17β-HSD1 in living cells and regulation of 17β-HSD7 by 17β-HSD1 knockdown.
    6. the dual functional 17beta-HSD7 is proposed as a novel target for estrogen-dependent breast cancer by regulating the balance of estradiol and dihydrotestosterone.
      Title: Synergistic control of sex hormones by 17β-HSD type 7: a novel target for estrogen-dependent breast cancer.
    7. 17beta-HSD1 and 17beta-HSD7 are principal reductive 17beta-hydroxysteroid dehydrogenases and major players in the viability of estrogen-dependent breast cancer cells.
      Title: Reductive 17beta-hydroxysteroid dehydrogenases which synthesize estradiol and inactivate dihydrotestosterone constitute major and concerted players in ER+ breast cancer cells.
    8. The transcriptional activity of the HSD17B7 gene containing the G allele is higher than that of the C allele. This difference in HSD17B7 expression may regulate the risk of peripheral edema as an adverse reaction induced by estramustine phosphate sodium
      Title: Single nucleotide polymorphisms of 17beta-hydroxysteroid dehydrogenase type 7 gene: mechanism of estramustine-related adverse reactions?
    9. 17betaHSD7 is not the key enzyme responsible for androstenone and testosterone metabolism in porcine liver cells
      Title: Investigation of testosterone, androstenone, and estradiol metabolism in HepG2 cells and primary culture pig hepatocytes and their effects on 17βHSD7 gene expression.
    10. Data show that apicidin significantly lowers HSD17B1 transcript and protein levels in endometrial adenocarcinoma cells, with no significant effect on HSD17B1 transcript stability.
      Title: Apicidin suppresses transcription of 17β-hydroxysteroid dehydrogenase type 1 in endometrial adenocarcinoma cells.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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)

    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

    Clone Names

    • MGC12523, MGC75018

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-keto sterol reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-keto sterol reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3-keto sterol reductase activity TAS
    Traceable Author Statement
    more info
    		  
    enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    Process Evidence Code Pubs
    involved_in androgen metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in estrogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in estrogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7
    Names
    17 beta-hydroxysteroid dehydrogenase type VII
    17-beta-HSD 7
    17-beta-hydroxysteroid dehydrogenase 7
    17beta hydroxysteroid dehydrogenase
    3-keto-steroid reductase
    dihydrotestosterone oxidoreductase
    estradiol 17-beta-dehydrogenase 7
    short chain dehydrogenase/reductase family 37C member 1
    NP_001291441.1
    NP_001291442.1
    NP_057455.1

    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_001304512.2 → NP_001291441.1  3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 2

      See identical proteins and their annotated locations for NP_001291441.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL445197
      UniProtKB/TrEMBL
      Q9H9C0
      Conserved Domains (1) summary
      cl21454
      Location:2 → 153
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001304513.2 → NP_001291442.1  3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 3

      See identical proteins and their annotated locations for NP_001291442.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL445197
      UniProtKB/Swiss-Prot
      P56937
      UniProtKB/TrEMBL
      Q5T248
      Conserved Domains (1) summary
      cl21454
      Location:2 → 110
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_016371.4 → NP_057455.1  3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 1

      See identical proteins and their annotated locations for NP_057455.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL392003, AL445197
      Consensus CDS
      CCDS1242.1
      UniProtKB/Swiss-Prot
      P56937, Q5T246, Q7Z4V9, Q8WWS2, Q9UF00
      Related
      ENSP00000254521.3, ENST00000254521.8
      Conserved Domains (1) summary
      cd08941
      Location:2 → 280
      3KS_SDR_c; 3-keto steroid reductase, classical (c) SDRs

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      162790702..162812823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007060779.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      162134938..162157387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486066.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56937.1 GenPept UniProtKB/Swiss-Prot:P56937

    Gene LinkOut

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