WFS1
Sign in to saveAlso known as CTRCT41, WFRS, WFS, WFSL, wolframin ER transmembrane glycoprotein
Wolframin is a protein that in humans is encoded by the WFS1 gene.
In the Vinony graph
Within Vinony's link graph, WFS1 is referenced by 9 other articles, and connects out to PubMed, human chromosome 4 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 4.
Its subject is documented across 8 Wikipedia language editions.
Gene data
WFS1- Name
- wolframin ER transmembrane glycoprotein
- Type
- protein-coding
- Position
- 6,269,832–6,303,265 (+)
- Aliases
- CTRCT41, WFRS, WFS, WFSL
- Ensembl
- ENSG00000109501
- RefSeq RNA
- NM_001145853.1, NM_006005.3
- RefSeq protein
- NP_001139325.1, NP_005996.2
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
wolframin ER transmembrane glycoprotein
- Symbol
- WFS1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:6,269,832-6,303,265
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 4380
- genetic association
- central diabetes insipidus
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/7466
- genomic start
- 6271576
- chromosome
- human chromosome 4
- genomic end
- 6304992
- cytogenetic location
- 4p16.1
- expressed in
- gastric mucosa
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Wolframin is a protein that in humans is encoded by the WFS1 gene.
==Function==
Excerpted from Wikipedia’s “WFS1” article, available under the CC BY-SA 4.0 licence.