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    PRND prion like protein doppel [ Homo sapiens (human) ]

    Gene ID: 23627, updated on 2-Nov-2024

    Summary

    Official Symbol
    PRNDprovided by HGNC
    Official Full Name
    prion like protein doppelprovided by HGNC
    Primary source
    HGNC:HGNC:15748
    See related
    Ensembl:ENSG00000171864 MIM:604263; AllianceGenome:HGNC:15748
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DPL; PrPLP; DOPPEL; dJ1068H6.4
    Summary
    This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 54.6) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PRND in Genome Data Viewer
    Location:
    20p13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (4721909..4728460)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (4761119..4767678)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (4702555..4709106)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S4X pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:4646806-4647007 Neighboring gene CRISPRi-validated cis-regulatory element chr20.345 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4666899-4667840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4667841-4668780 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:4679719-4680955 Neighboring gene prion protein (Kanno blood group) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4690405-4690906 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:4693569-4694768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17496 Neighboring gene prion locus lncRNA, testis expressed Neighboring gene IDI1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 7998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12646 Neighboring gene uncharacterized LOC105372511

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC41841, dJ1068H6.4,

    Gene Ontology Provided by GOA

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acrosome reaction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    prion-like protein doppel
    Names
    downstream prion protein-like
    prion gene complex, downstream
    prion protein 2 (dublet)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012409.4NP_036541.2  prion-like protein doppel preproprotein

      See identical proteins and their annotated locations for NP_036541.2

      Status: REVIEWED

      Source sequence(s)
      AK313404, AL133396, BC043644
      Consensus CDS
      CCDS13081.1
      UniProtKB/Swiss-Prot
      A7U7M5, Q9H311, Q9H312, Q9NTM4, Q9UKY0
      UniProtKB/TrEMBL
      A7U7M2, Q27H88
      Related
      ENSP00000306900.2, ENST00000305817.3
      Conserved Domains (2) summary
      pfam00377
      Location:63163
      Prion; Prion/Doppel alpha-helical domain
      pfam11466
      Location:130
      Doppel; Prion-like protein Doppel

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      4721909..4728460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      4761119..4767678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)