PDIA6
Protein disulfide-isomerase A6
Also known as: ERp5, P5, PDIA6_HUMAN, TXNDC7
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15084
- Gene
- PDIA6
- Ensembl
- ENSG00000143870
- Chromosome
- 2
- Canonical length
- 440 aa
- Protein class
- Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum,Primary cilium,Centriolar satellite,Basal body
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
440 residues, UniProt reviewed canonical sequence.
>Q15084|PDIA6
1 MALLVLGLVS CTFFLAVNGL YSSSDDVIEL TPSNFNREVI QSDSLWLVEF YAPWCGHCQR
61 LTPEWKKAAT ALKDVVKVGA VDADKHHSLG GQYGVQGFPT IKIFGSNKNR PEDYQGGRTG
121 EAIVDAALSA LRQLVKDRLG GRSGGYSSGK QGRSDSSSKK DVIELTDDSF DKNVLDSEDV
181 WMVEFYAPWC GHCKNLEPEW AAAASEVKEQ TKGKVKLAAV DATVNQVLAS RYGIRGFPTI
241 KIFQKGESPV DYDGGRTRSD IVSRALDLFS DNAPPPELLE IINEDIAKRT CEEHQLCVVA
301 VLPHILDTGA AGRNSYLEVL LKLADKYKKK MWGWLWTEAG AQSELETALG IGGFGYPAMA
361 AINARKMKFA LLKGSFSEQG INEFLRELSF GRGSTAPVGG GAFPTIVERE PWDGRDGELP
421 VEDDIDLSDV ELDDLGKDELLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PDIA6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 395 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 395 nTPM
- thyroid gland: 340 nTPM
- liver: 244 nTPM
- pancreas: 238 nTPM
- salivary gland: 173 nTPM
- cervix: 168 nTPM
Single-cell type
- extravillous trophoblasts: 1,635 nCPM
- epididymal principal cells: 1,039 nCPM
- plasma cells: 859 nCPM
- decidual stromal cells: 734 nCPM
- migrating cytotrophoblasts: 727 nCPM
- syncytiotrophoblasts: 664 nCPM
Immune cell
- total PBMC: 319 nTPM
- basophil: 277 nTPM
- plasmacytoid DC: 269 nTPM
- NK-cell: 242 nTPM
- MAIT T-cell: 219 nTPM
- myeloid DC: 215 nTPM
Brain region
- choroid plexus: 83 nTPM
- white matter: 71 nTPM
- basal ganglia: 68 nTPM
- thalamus: 67 nTPM
- medulla oblongata: 63 nTPM
- hypothalamus: 62 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PDIA6.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 88 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- See cases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.47
- gnomAD pLI
- 0.25
- gnomAD missense Z
- 0.7
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Protein disulfide-isomerase, thioredoxin-like domain
- Thioredoxin domain
- Thioredoxin, conserved site
- Thioredoxin-like superfamily
- Thioredoxin
- PDIA6-like, C-terminal thioredoxin-like domain
- PDIA6-like, C-terminal thioredoxin-like domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PDIA6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PDIA6 as an antibody target. Whether an autoantibody or antibody against PDIA6 could matter depends on whether native PDIA6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PDIA6 is annotated at the cell surface, where native PDIA6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PDIA6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...