TXNDC5 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 endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]
Details
| Type | Retained Intron |
| Official Symbol | TXNDC5 |
| Official Name | thioredoxin domain containing 5 [Source:HGNC Symbol;Acc:HGNC:21073] |
| Ensembl ID | ENSG00000239264 |
| Bio databases IDs | |
| Aliases | thioredoxin domain containing 5, protein disulfide isomerase family A, member 15 |
| Synonyms | ENDOPDI, ERP46, HCC-2, PC-TRP, PDIA15, STRF8, thioredoxin domain containing 5, TLP46, TXND5, UNQ364 |
| 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 TXNDC5 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
- protein disulfide isomerase, eukaryotic
- thioredoxin-like domain
- protein disulfide oxidoreductase
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- protein disulfide-isomerase domain
- enzyme
- protein binding
- thioredoxin
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glycogen storage disease type II
- early onset hypertension
- bleomycin-induced pulmonary fibrosis
- idiopathic pulmonary fibrosis
role in cell
- apoptosis
- proliferation
- expression in
- activation in
- degradation in
- growth
- accumulation
- aggregation
- survival
- peroxidation in
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
- azurophil granule lumen
- Extracellular Space
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TXNDC5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of apoptotic process
- protein folding
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular vesicular exosome
- endoplasmic reticulum
- lysosomal lumen
- extracellular region
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein disulfide oxidoreductase activity
- protein disulfide isomerase activity