WFS1 Gene Summary [Human]
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | WFS1 |
| Official Name | wolframin ER transmembrane glycoprotein [Source:HGNC Symbol;Acc:HGNC:12762] |
| Ensembl ID | ENSG00000109501 |
| Bio databases IDs | |
| Aliases | wolframin ER transmembrane glycoprotein |
| Synonyms | CTRCT41, WFRS, WFS, WFSL, WOLFRAMIN, wolframin ER transmembrane glycoprotein |
| 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 WFS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- calcium-dependent protein binding
- ATPase binding
- binding protein
- calmodulin binding
- Wolframin EF-hand domain
- Wolframin C-terminal OB-fold domain
- Wolframin cysteine-rich domain
- Wolframin Sel1-like repeat
- transcription factor binding
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant Wolfram-like syndrome
- colorectal cancer
- Wolfram syndrome type 1
- Wolfram syndrome
- non-insulin-dependent diabetes mellitus
- optic atrophy
- diabetes mellitus
- hereditary disorder
- congenital cataract
- retinitis pigmentosa
role in cell
- expression in
- number
- binding in
- phosphorylation in
- translation in
- cell viability
- apoptosis
- endoplasmic reticulum stress response
- loss
- damage
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
- membrane fraction
- synaptic vesicle membrane
- intracellular membranes
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- secretory granules
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WFS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of growth
- renal water homeostasis
- calcium ion homeostasis
- positive regulation of calcium ion transport
- negative regulation of programmed cell death
- ER overload response
- negative regulation of neuron apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- sensory perception of sound
- positive regulation of protein metabolic process
- endoplasmic reticulum unfolded protein response
- kidney development
- negative regulation of type B pancreatic cell apoptotic process
- positive regulation of protein ubiquitination
- endoplasmic reticulum calcium ion homeostasis
- neurological system process
- negative regulation of translation
- pancreas development
- protein maturation by protein folding
- visual perception
- olfactory behavior
- negative regulation of apoptotic process
- glucose homeostasis
- protein stabilization
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- dendrite
- endoplasmic reticulum lumen
- secretory granule
- endoplasmic reticulum
- synaptic vesicle membrane
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- protein binding
- ubiquitin protein ligase binding
- proteasome binding
- calcium-dependent protein binding
- ATPase binding