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    Prnd prion like protein doppel [ Mus musculus (house mouse) ]

    Gene ID: 26434, updated on 12-May-2024

    Summary

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    Official Symbol
    Prndprovided by MGI
    Official Full Name
    prion like protein doppelprovided by MGI
    Primary source
    MGI:MGI:1346999
    See related
    Ensembl:ENSMUSG00000027338 AllianceGenome:MGI:1346999
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dpl; PrPLP; doppel
    Summary
    Enables copper ion binding activity. Involved in acrosome reaction. Acts upstream of or within cellular copper ion homeostasis. Is anchored component of external side of plasma membrane. Is expressed in several structures, including embryo mesenchyme; gut; heart; nervous system; and testis. Orthologous to human PRND (prion like protein doppel). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 24.3), limb E14.5 (RPKM 11.2) and 9 other tissues See more
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    Genomic context

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    See Prnd in Genome Data Viewer
    Location:
    2 F2; 2 64.07 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (131792781..131798051)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (131950861..131956131)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene laminin receptor 1 (ribosomal protein SA), pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_05721 Neighboring gene prion protein Neighboring gene prion protein readthrough transcript Neighboring gene STARR-seq mESC enhancer starr_05722 Neighboring gene STARR-seq mESC enhancer starr_05723 Neighboring gene Ras association (RalGDS/AF-6) domain family member 2 Neighboring gene STARR-positive B cell enhancer mm9_chr2:131844916-131845217 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:131846634-131846817 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:131855025-131855212 Neighboring gene STARR-positive B cell enhancer ABC_E9533 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:131861333-131861539 Neighboring gene predicted gene, 31179 Neighboring gene STARR-positive B cell enhancer ABC_E5986

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Differential responses of neuronal and spermatogenic cells to the doppel cytotoxicity. Qin K, et al. PLoS One, 2013. PMID 24339999, Free PMC Article
    2. Antagonistic roles of the N-terminal domain of prion protein to doppel. Sakaguchi S. Prion, 2008 Jul-Sep. PMID 19158506, Free PMC Article
    3. Autophagy and cell death of Purkinje cells overexpressing Doppel in Ngsk Prnp-deficient mice. Heitz S, et al. Brain Pathol, 2010 Jan. PMID 19055638, Free PMC Article
    4. Newly established in vitro system with fluorescent proteins shows that abnormal expression of downstream prion protein-like protein in mice is probably due to functional disconnection between splicing and 3' formation of prion protein pre-mRNA. Yoshikawa D, et al. Gene, 2007 Jan 15. PMID 17034959
    5. Identification of the critical cis-acting elements in the promoter of the mouse Prnd gene coding for Doppel protein. Nagyová J, et al. Biochim Biophys Acta, 2004 Sep 17. PMID 15358521

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. in GC-1 spg cells, phosphorylation of p21 and N-terminal truncated PrP may play roles in the control of Dpl-induced apoptosis, which may benefit the physiological function of Dpl in the male reproduction system.
      Title: Differential responses of neuronal and spermatogenic cells to the doppel cytotoxicity.
    2. Data suggest that glycosylation status of the prion protein and yet-to-be-identified proteases modulate internal C1 and C2 endoproteolysis of Doppel (doppelganger prion) and Shadoo (shadow of prion protein) in mouse neurons.
      Title: Endoproteolytic processing of the mammalian prion glycoprotein family.
    3. Data on residue secondary structure propensities suggest that novel beta-sheets of doppel protein (Prnd) and prion protein (Prnp) are formed by amino acids belonging to helices that are the least stable in the respective native structures.
      Title: Prion versus doppel protein misfolding: new insights from replica-exchange molecular dynamics simulations.
    4. This finding identifies a protein domain that plays a role in mediating Dpl-related toxicity.
      Title: Ataxia with cerebellar lesions in mice expressing chimeric PrP-Dpl protein.
    5. Findings raise the possibility that Bax and caspase-3 feature in Dpl-mediated apoptosis.
      Title: The role of Bax and caspase-3 in doppel-induced apoptosis of cerebellar granule cells.
    6. These results indicated that Dpl was glycosylated in a cell type- and tissue-specific manner regardless of PrP(C), while PrP(C) endoproteolysis was modulated by Dpl expression.
      Title: Tissue- and cell type-specific modification of prion protein (PrP)-like protein Doppel, which affects PrP endoproteolysis.
    7. ectopic expression of PrP-like protein Doppel in central neurons induces significant Purkinje cell death resulting in late-onset ataxia
      Title: Autophagy and cell death of Purkinje cells overexpressing Doppel in Ngsk Prnp-deficient mice.
    8. We suggest a mechanism for Doppel-mediated Purkinje cell degeneration linked to reduced gene expression of proteins related to neuronal activity.
      Title: Altered expression of type 1 inositol 1,4,5-trisphosphate receptor in the Ngsk Prnp deficient mice.
    9. interaction between Dpl and PrPC occurs in lipid rafts and is dependent on the integrity of these membrane microdomains
      Title: Doppel and PrPC co-immunoprecipitate in detergent-resistant membrane domains of epithelial FRT cells.
    10. Prion protein paralog doppel protein interacts with alpha-2-macroglobulin
      Title: Prion protein paralog doppel protein interacts with alpha-2-macroglobulin: a plausible mechanism for doppel-mediated neurodegeneration.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough Prn

    Readthrough gene: Prn, Included gene: Prnp

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables copper ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables copper ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables copper ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acrosome reaction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within intracellular copper ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    prion-like protein doppel
    Names
    doppelganger
    prion protein dublet
    prion protein-like protein

    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_001126338.2 → NP_001119810.1  prion-like protein doppel precursor

      See identical proteins and their annotated locations for NP_001119810.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AK043023, BY450477
      Consensus CDS
      CCDS16767.1
      UniProtKB/Swiss-Prot
      Q9QUG3, Q9QZT5
      UniProtKB/TrEMBL
      A7U7N0, C7E3P5, Q544A3
      Related
      ENSMUSP00000105800.3, ENSMUST00000110171.9
      Conserved Domains (2) summary
      pfam11466
      Location:1 → 30
      Doppel; Prion-like protein Doppel
      pfam00377
      Location:64 → 178
      Prion; Prion/Doppel alpha-helical domain

    2. NM_001278257.1 → NP_001265186.1  prion-like protein doppel precursor

      See identical proteins and their annotated locations for NP_001265186.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AK043023, BY450477
      Consensus CDS
      CCDS16767.1
      UniProtKB/Swiss-Prot
      Q9QUG3, Q9QZT5
      UniProtKB/TrEMBL
      A7U7N0, C7E3P5, Q544A3
      Related
      ENSMUSP00000105799.2, ENSMUST00000110170.8
      Conserved Domains (2) summary
      pfam11466
      Location:1 → 30
      Doppel; Prion-like protein Doppel
      pfam00377
      Location:64 → 178
      Prion; Prion/Doppel alpha-helical domain

    3. NM_001278520.1 → NP_001265449.1  prion-like protein doppel precursor

      See identical proteins and their annotated locations for NP_001265449.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AK043023, AL833794
      Consensus CDS
      CCDS16767.1
      UniProtKB/Swiss-Prot
      Q9QUG3, Q9QZT5
      UniProtKB/TrEMBL
      A7U7N0, C7E3P5, Q544A3
      Related
      ENSMUSP00000105798.2, ENSMUST00000110169.2
      Conserved Domains (2) summary
      pfam11466
      Location:1 → 30
      Doppel; Prion-like protein Doppel
      pfam00377
      Location:64 → 178
      Prion; Prion/Doppel alpha-helical domain

    4. NM_023043.3 → NP_075530.1  prion-like protein doppel precursor

      See identical proteins and their annotated locations for NP_075530.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AF192384, AK043023, AK161043, BY450477
      Consensus CDS
      CCDS16767.1
      UniProtKB/Swiss-Prot
      Q9QUG3, Q9QZT5
      UniProtKB/TrEMBL
      A7U7N0, C7E3P5, Q544A3
      Related
      ENSMUSP00000105801.3, ENSMUST00000110172.9
      Conserved Domains (2) summary
      pfam11466
      Location:1 → 30
      Doppel; Prion-like protein Doppel
      pfam00377
      Location:64 → 178
      Prion; Prion/Doppel alpha-helical domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      131792781..131798051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QUG3.1 GenPept UniProtKB/Swiss-Prot:Q9QUG3

    Gene LinkOut

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

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