Format

Send to:

Choose Destination

PDIA6 protein disulfide isomerase family A member 6 [ Homo sapiens (human) ]

Gene ID: 10130, updated on 1-Jun-2020

Summary

Official Symbol
PDIA6provided by HGNC
Official Full Name
protein disulfide isomerase family A member 6provided by HGNC
Primary source
HGNC:HGNC:30168
See related
Ensembl:ENSG00000143870 MIM:611099
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
P5; ERP5; TXNDC7
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, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in thyroid (RPKM 159.7), placenta (RPKM 70.6) and 25 other tissues See more
Orthologs

Genomic context

See PDIA6 in Genome Data Viewer
Location:
2p25.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (10783391..10837712, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (10908889..10978103, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V1 subunit C2 Neighboring gene RNA, U7 small nuclear 138 pseudogene Neighboring gene uncharacterized LOC105373428 Neighboring gene RNA, U7 small nuclear 176 pseudogene Neighboring gene long intergenic non-protein coding RNA 1954 Neighboring gene potassium voltage-gated channel modifier subfamily F member 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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of protein disulfide isomerase family A, member 6 (PDIA6) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

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 PDIA6; predicted interaction to be within the endoplasmic reticulum and function as a 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 6 (PDIA6) 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

Clone Names

  • FLJ43460

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
 
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
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein folding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum chaperone complex ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein disulfide-isomerase A6
Names
ER protein 5
endoplasmic reticulum protein 5
epididymis secretory sperm binding protein
protein disulfide isomerase P5
protein disulfide isomerase-associated 6
protein disulfide isomerase-related protein
thioredoxin domain containing 7 (protein disulfide isomerase)
thioredoxin domain-containing protein 7
NP_001269633.1
NP_001269634.1
NP_001269635.1
NP_001269636.1
NP_005733.1
XP_011508610.1

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_001282704.1NP_001269633.1  protein disulfide-isomerase A6 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC092687, AK127433, BM511594
    Consensus CDS
    CCDS62854.1
    UniProtKB/Swiss-Prot
    Q15084
    Related
    ENSP00000385385.2, ENST00000404371.6
    Conserved Domains (2) summary
    cd02983
    Location:327456
    P5_C; P5 family, C-terminal redox inactive TRX-like domain; P5 is a protein disulfide isomerase (PDI)-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is ...
    cd03001
    Location:78180
    PDI_a_P5; PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the ...
  2. NM_001282705.2NP_001269634.1  protein disulfide-isomerase A6 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC092687, AK127433, AK131234, BM511594
    Consensus CDS
    CCDS62855.1
    UniProtKB/Swiss-Prot
    Q15084
    Related
    ENSP00000384459.2, ENST00000404824.2
    Conserved Domains (2) summary
    cd02983
    Location:323452
    P5_C; P5 family, C-terminal redox inactive TRX-like domain; P5 is a protein disulfide isomerase (PDI)-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is ...
    cd03001
    Location:74176
    PDI_a_P5; PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the ...
  3. NM_001282706.1NP_001269635.1  protein disulfide-isomerase A6 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame translational start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC092687, AK127433, AK297547, BM511594
    Consensus CDS
    CCDS62853.1
    UniProtKB/Swiss-Prot
    Q15084
    Related
    ENSP00000371024.4, ENST00000381611.8
    Conserved Domains (3) summary
    cd02983
    Location:280409
    P5_C; P5 family, C-terminal redox inactive TRX-like domain; P5 is a protein disulfide isomerase (PDI)-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is ...
    cd03001
    Location:31133
    PDI_a_P5; PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the ...
    TIGR01130
    Location:30267
    ER_PDI_fam; protein disulfide isomerase, eukaryotic
  4. NM_001282707.1NP_001269636.1  protein disulfide-isomerase A6 isoform e precursor

    See identical proteins and their annotated locations for NP_001269636.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK127433, AK294347, BM511594, DA976962, HY166449
    Consensus CDS
    CCDS62852.1
    UniProtKB/Swiss-Prot
    Q15084
    Related
    ENSP00000438778.1, ENST00000540494.5
    Conserved Domains (3) summary
    cd02983
    Location:272401
    P5_C; P5 family, C-terminal redox inactive TRX-like domain; P5 is a protein disulfide isomerase (PDI)-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is ...
    cd03001
    Location:23125
    PDI_a_P5; PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the ...
    TIGR01130
    Location:22259
    ER_PDI_fam; protein disulfide isomerase, eukaryotic
  5. NM_005742.4NP_005733.1  protein disulfide-isomerase A6 isoform d precursor

    See identical proteins and their annotated locations for NP_005733.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK127433, BC001312, BM511594
    Consensus CDS
    CCDS1675.1
    UniProtKB/Swiss-Prot
    Q15084
    Related
    ENSP00000272227.3, ENST00000272227.7
    Conserved Domains (2) summary
    cd02983
    Location:275404
    P5_C; P5 family, C-terminal redox inactive TRX-like domain; P5 is a protein disulfide isomerase (PDI)-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is ...
    cd03001
    Location:26128
    PDI_a_P5; PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the ...

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    10783391..10837712 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510308.2XP_011508610.1  protein disulfide-isomerase A6 isoform X1

    Conserved Domains (3) summary
    cd02983
    Location:275385
    P5_C; P5 family, C-terminal redox inactive TRX-like domain; P5 is a protein disulfide isomerase (PDI)-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is ...
    cd03001
    Location:26128
    PDI_a_P5; PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the ...
    TIGR01130
    Location:25262
    ER_PDI_fam; protein disulfide isomerase, eukaryotic
Support Center