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    DHRSX dehydrogenase/reductase X-linked [ Homo sapiens (human) ]

    Gene ID: 207063, updated on 27-Dec-2024

    Summary

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    Official Symbol
    DHRSXprovided by HGNC
    Official Full Name
    dehydrogenase/reductase X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:18399
    See related
    Ensembl:ENSG00000169084 Ensembl:ENSG00000292338 MIM:301034; AllianceGenome:HGNC:18399
    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
    DHRSY; CDG1DD; DHRS5X; DHRS5Y; DHRSXY; SDR7C6; CXorf11; SDR46C1
    Summary
    Enables dolichal reductase activity and polyprenol dehydrogenase activity. Involved in dolichol biosynthetic process and positive regulation of autophagy. Located in extracellular region. Is active in lipid droplet. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 6.0), liver (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DHRSX in Genome Data Viewer
    Location:
    Xp22.33 and Yp11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (2219506..2500976, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (2219506..2500976, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (1829953..2113734, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (1894160..2177723, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2137547..2419017, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (2087547..2369017, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrY:1935791-1936290 Neighboring gene uncharacterized LOC107985677 Neighboring gene H3K27ac hESC enhancer GRCh37_chrY:1956524-1957311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2035872-2036372 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrY:1993758-1994466 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrY:2010123-2010650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2170834-2171344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2171345-2171853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2180646-2181480 Neighboring gene uncharacterized LOC124905239 Neighboring gene NANOG-H3K27ac hESC enhancers GRCh37_chrX:2309773-2310384 and GRCh37_chrY:2259846-2260410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2311094-2311904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2467730-2468457 Neighboring gene zinc finger BED-type containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2501116-2501616 Neighboring gene H3K4me1 hESC enhancers GRCh37_chrX:2501617-2502117 and GRCh37_chrY:2451809-2452308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrY:2476579-2477103 Neighboring gene long intergenic non-protein coding RNA 3112 Neighboring gene microRNA 6089

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrY:1935791-1936290 Neighboring gene uncharacterized LOC107985677 Neighboring gene H3K27ac hESC enhancer GRCh37_chrY:1956524-1957311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2035872-2036372 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrY:1993758-1994466 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrY:2010123-2010650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2170834-2171344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2171345-2171853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2180646-2181480 Neighboring gene uncharacterized LOC124905239 Neighboring gene NANOG-H3K27ac hESC enhancers GRCh37_chrX:2309773-2310384 and GRCh37_chrY:2259846-2260410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2311094-2311904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2467730-2468457 Neighboring gene zinc finger BED-type containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2501116-2501616 Neighboring gene H3K4me1 hESC enhancers GRCh37_chrX:2501617-2502117 and GRCh37_chrY:2451809-2452308 Neighboring gene long intergenic non-protein coding RNA 3112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrY:2476579-2477103 Neighboring gene long intergenic non-protein coding RNA 102 Neighboring gene microRNA 6089 Neighboring gene CD99 molecule pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. DHRSX, a novel non-classical secretory protein associated with starvation induced autophagy. Zhang G, et al. Int J Med Sci, 2014. PMID 25076851, Free PMC Article
    2. A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. Wilson MP, et al. Cell, 2024 Jul 11. PMID 38821050, Free PMC Article
    3. Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. Gianfrancesco F, et al. Genome Res, 2001 Dec. PMID 11731500, Free PMC Article
    4. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563, Free PMC Article
    5. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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 dolichal reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables polyprenol dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dolichol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    polyprenol dehydrogenase
    Names
    dehydrogenase/reductase (SDR family) X chromosome
    dehydrogenase/reductase (SDR family) X-linked
    dehydrogenase/reductase (SDR family) Y-linked
    dehydrogenase/reductase SDR family member on chromosome X
    dolichal reductase
    short chain dehydrogenase/reductase family 46C member 1
    short chain dehydrogenase/reductase family 7C member 6

    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_145177.3 → NP_660160.2  polyprenol dehydrogenase

      See identical proteins and their annotated locations for NP_660160.2

      Status: VALIDATED

      Source sequence(s)
      AC079176, AJ293620, BG703185, BM794858, CR856018
      Consensus CDS
      CCDS35195.1
      UniProtKB/Swiss-Prot
      Q6UWC7, Q8N5I4, Q8WUS4, Q96GR8, Q9NTF6
      UniProtKB/TrEMBL
      A0A1S5UZ00
      Related
      ENSP00000334113.5, ENSP00000518604.1, ENST00000334651.11, ENST00000711204.1
      Conserved Domains (2) summary
      cd05327
      Location:43 → 316
      retinol-DH_like_SDR_c_like; retinol dehydrogenase (retinol-DH), Light dependent Protochlorophyllide (Pchlide) OxidoReductase (LPOR) and related proteins, classical (c) SDRs
      PRK06197
      Location:39 → 325
      PRK06197; short chain dehydrogenase; Provisional

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      2219506..2500976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      2219506..2500976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      1829953..2113734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      1894160..2177723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5I4.2 GenPept UniProtKB/Swiss-Prot:Q8N5I4

    Gene LinkOut

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

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