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

Gene ID: 26434, updated on 21-Apr-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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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

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