PDIA6 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PDIA6 |
| Official Name | protein disulfide isomerase family A member 6 [Source:HGNC Symbol;Acc:HGNC:30168] |
| Ensembl ID | ENSG00000143870 |
| Bio databases IDs | |
| Aliases | protein disulfide isomerase family A member 6, protein disulfide isomerase-related protein |
| Synonyms | 1700015E05Rik, CaBP1, CaBP5, ERP5, LOC100046302, P5, PDIA6 isoform 2, Pdi-p5, PDIR5, Protein disulfide isomerase A6 precursor, protein disulfide isomerase associated 6, protein disulfide isomerase family A member 6, protein disulfide isomerase family A, member 6, Similar to disullide isomerase related, TXNDC7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDIA6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein disulfide-isomerase
- thioredoxin-like domain
- protein disulfide isomerase, eukaryotic
- protein disulfide oxidoreductase
- Thioredoxin-like
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- calcium ion binding
- protein disulfide-isomerase domain
- enzyme
- protein binding
- thioredoxin
Pathways
Biological processes and signaling networks where the PDIA6 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- endometrial cancer
- peripheral arterial disease
- plasma cell myeloma
- organismal death
- neonatal late-onset sepsis
- rheumatoid arthritis
- infection by HIV-1
- productive infection by HIV-1
role in cell
- expression in
- proliferation
- production in
- phosphorylation in
- migration
- invasion by
- degradation in
- deposition
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cilia
- cell surface
- Extracellular Space
- Nucleus
- Plasma Membrane
- basal bodies
- centrosome
- Endoplasmic Reticulum
- ER-to-Golgi intermediate compartment
- cytosol
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- nucleoli
- melanosomes
- smooth endoplasmatic reticulum
- peroxisomes
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDIA6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein folding
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- melanosome
- cytosol
- endoplasmic reticulum
- endoplasmic reticulum-Golgi intermediate compartment
- endoplasmic reticulum chaperone complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein disulfide isomerase activity
- protein disulfide oxidoreductase activity
- protein binding