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PDIA4 protein disulfide isomerase family A member 4 [ Homo sapiens (human) ]

Gene ID: 9601, updated on 23-Nov-2021

Summary

Official Symbol
PDIA4provided by HGNC
Official Full Name
protein disulfide isomerase family A member 4provided by HGNC
Primary source
HGNC:HGNC:30167
See related
Ensembl:ENSG00000155660
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
ERP70; ERP72; ERp-72
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, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]
Expression
Broad expression in thyroid (RPKM 166.5), liver (RPKM 67.6) and 24 other tissues See more
Orthologs
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Genomic context

See PDIA4 in Genome Data Viewer
Location:
7q36.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (149003051..149028505, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (148700143..148725597, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene gastric carcinoma proliferation enhancing transcript 1 Neighboring gene RNA, Ro60-associated Y1 Neighboring gene RNA, U6 small nuclear 650, pseudogene Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 1

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
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
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 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 HIV-1 gp160 interacts with PDIA4; predicted interaction to be within the endoplasmic reticulum and function as thioredoxin reductase PubMed
env Treatment of trimeric HIV-1 rgp140 with protein disulfide isomerase yields monomers by disruption of the intermolecular disulfide bonds PubMed
Pol gag-pol HIV-1 Pol is identified to have a physical interaction with protein disulfide isomerase family A, member 4 (PDIA4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
integrase gag-pol HIV-1 IN is identified to have a physical interaction with protein disulfide isomerase family A, member 4 (PDIA4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein disulfide isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein disulfide isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein-disulfide reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in chaperone-mediated protein folding ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein secretion TAS
Traceable Author Statement
more info
PubMed 
involved_in response to endoplasmic reticulum stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein disulfide-isomerase A4
Names
ER protein 70
ER protein 72
endoplasmic reticulum resident protein 70
endoplasmic reticulum resident protein 72
protein disulfide isomerase related protein (calcium-binding protein, intestinal-related)
protein disulfide isomerase-associated 4
testicular tissue protein Li 137
NP_001358173.1
NP_001358174.1
NP_004902.1

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_001371244.1NP_001358173.1  protein disulfide-isomerase A4 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC093743
    Related
    ENSP00000286091.5, ENST00000286091.9
    Conserved Domains (2) summary
    TIGR01126
    Location:67168
    pdi_dom; protein disulfide-isomerase domain
    TIGR01130
    Location:177641
    ER_PDI_fam; protein disulfide isomerase, eukaryotic
  2. NM_001371245.1NP_001358174.1  protein disulfide-isomerase A4 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC093743
    Conserved Domains (2) summary
    TIGR01130
    Location:63617
    ER_PDI_fam; protein disulfide isomerase, eukaryotic
    cl00388
    Location:179211
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  3. NM_004911.5NP_004902.1  protein disulfide-isomerase A4 isofrom 2 precursor

    See identical proteins and their annotated locations for NP_004902.1

    Status: VALIDATED

    Source sequence(s)
    AU139362, BC000425, BC001928, CX871856
    Consensus CDS
    CCDS5893.1
    UniProtKB/Swiss-Prot
    P13667
    UniProtKB/TrEMBL
    A0A090N8Y2
    Related
    ENSP00000499129.1, ENST00000652332.1
    Conserved Domains (2) summary
    TIGR01126
    Location:67168
    pdi_dom; protein disulfide-isomerase domain
    TIGR01130
    Location:177640
    ER_PDI_fam; protein disulfide isomerase, eukaryotic

RNA

  1. NR_163905.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093743
  2. NR_163906.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093743
  3. NR_163907.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093743
  4. NR_163908.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093743
  5. NR_163909.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093743

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    149003051..149028505 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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