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    PDIA5 protein disulfide isomerase family A member 5 [ Homo sapiens (human) ]

    Gene ID: 10954, updated on 15-Jun-2019

    Summary

    Official Symbol
    PDIA5provided by HGNC
    Official Full Name
    protein disulfide isomerase family A member 5provided by HGNC
    Primary source
    HGNC:HGNC:24811
    See related
    Ensembl:ENSG00000065485 MIM:616942
    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
    PDIR
    Summary
    This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in placenta (RPKM 25.8), prostate (RPKM 23.2) and 24 other tissues See more
    Orthologs

    Genomic context

    See PDIA5 in Genome Data Viewer
    Location:
    3q21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (123067009..123162106)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122785856..122880953)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 49 member 4 Neighboring gene long intergenic non-protein coding RNA 2035 Neighboring gene uncharacterized LOC112268448 Neighboring gene semaphorin 5B Neighboring gene microRNA 7110 Neighboring gene SEC22 homolog A, vesicle trafficking protein Neighboring gene adenylate cyclase 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env PDI is predominantly involved in HIV-1 entry and infection of the T cell line PM-1 and PHA-stimulated primary T lymphocytes, suggesting the preferential use of PDI relevant to the HIV-1 entry and establishment of virus reservoirs in resting CD4+ cells PubMed
    env The disulfide cross-linking interaction between gp120 and PDI is enhanced by CD4 protein PubMed
    env HIV-1 gp120 is identified to have a physical interaction with protein disulfide isomerase family A, member 5 (PDIA5) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    env Protein-disulfide isomerase (PDI) cleaves disulfide bonds in recombinant HIV-1 envelope glycoprotein gp120, and gp120 bound to the surface receptor CD4 undergoes a disulfide reduction that is prevented by PDI inhibitors PubMed
    Envelope surface glycoprotein gp160, precursor env Treatment of trimeric HIV-1 rgp140 with protein disulfide isomerase yields monomers by disruption of the intermolecular disulfide bonds PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
      IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
      Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
    • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
      XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ30401

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    oxidoreductase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    peptide disulfide oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein disulfide isomerase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
     
    cell redox homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    PubMed 
    protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    protein disulfide-isomerase A5
    Names
    protein disulfide isomerase-associated 5
    protein disulfide isomerase-related protein
    NP_006801.1

    NCBI Reference Sequences (RefSeq)

    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_006810.4NP_006801.1  protein disulfide-isomerase A5 precursor

      See identical proteins and their annotated locations for NP_006801.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      BM549365, CA414869, D49490
      Consensus CDS
      CCDS3020.1
      UniProtKB/Swiss-Prot
      Q14554
      Related
      ENSP00000323313.7, ENST00000316218.12
      Conserved Domains (3) summary
      cd02997
      Location:398501
      PDI_a_PDIR; PDIa family, PDIR subfamily; composed of proteins similar to human PDIR (for Protein Disulfide Isomerase Related). PDIR is composed of three redox active TRX (a) domains and an N-terminal redox inactive TRX-like (b) domain. Similar to PDI, it is involved ...
      cd03067
      Location:28139
      PDI_b_PDIR_N; PDIb family, PDIR subfamily, N-terminal TRX-like b domain; composed of proteins similar to human PDIR (for Protein Disulfide Isomerase Related). PDIR is composed of three redox active TRX (a) domains and an N-terminal redox inactive TRX-like (b) domain. ...
      PTZ00102
      Location:168512
      PTZ00102; disulphide isomerase; Provisional

    RNA

    1. NR_028444.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon and uses an internal alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC001625, BM549365, CB158962
      Related
      ENST00000489923.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      123067009..123162106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_427359.1 RNA Sequence

    2. XR_427360.1 RNA Sequence

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