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

Gene ID: 10954, updated on 8-Jul-2021

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
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Genomic context

See PDIA5 in Genome Data Viewer
Location:
3q21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (123067025..123162104)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122785872..122880951)

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available

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 PubChem

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
enables oxidoreductase activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein disulfide isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein disulfide isomerase activity TAS
Traceable Author Statement
more info
PubMed 
enables protein-disulfide reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in electron transport chain TAS
Traceable Author Statement
more info
PubMed 
involved_in protein folding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein folding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
PubMed 
located_in 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)

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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_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_028444.2 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
    Related
    ENST00000489923.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    123067025..123162104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_427359.1 RNA Sequence

  2. XR_427360.1 RNA Sequence

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