PDILT 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 has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | PDILT |
| Official Name | protein disulfide isomerase like, testis expressed [Source:HGNC Symbol;Acc:HGNC:27338] |
| Ensembl ID | ENSG00000169340 |
| Bio databases IDs | |
| Aliases | protein disulfide isomerase like, testis expressed, protein disulfide isomerase family A, member 7, protein disulfide isomerase-like protein of the testis |
| Synonyms | 1700007B13RIK, PDIA7, protein disulfide isomerase-like, testis expressed, RGD1307822 |
| 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 PDILT 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 Oxidoreductases and Other Proteins with a Thioredoxin fold
- 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
- urolithiasis
- non-insulin-dependent diabetes mellitus
- cardiovascular disorder
- renal failure
- kidney disease
- kidney stones
- hematuria
- urinary tract infection
- chronic kidney disease
- ureterolithiasis
regulated by
regulates
role in cell
- development
- function
- folding 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.
- Extracellular Space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDILT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- spermatid development
- germ cell migration
- protein folding
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein disulfide isomerase activity
- protein binding involved in protein folding