| Gene Symbol |
WFS1
|
| Entrez Gene |
7466
|
| Alt Symbol |
CTRCT41, WFRS, WFS, WFSL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Wolfram syndrome 1 (wolframin)
|
| Other Description |
wolframin
|
| Swissprots |
B2R797 Q9UNW6 Q8N6I3 O76024 D3DVT1
|
| Accessions |
AGX00084 AKA98155 EAW82396 EAW82397 EAW82398 O76024 AF084481 AAC64943 AK295986 BAG58761 AK312897 BAG35744 BC030130 AAH30130 BC069213 EU176760 ABW03561 Y18064 CAA77022 NM_001145853 NP_001139325 NM_006005 NP_005996
|
| Function |
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. {ECO:0000269|PubMed:16989814}.
|
| Subcellular Location |
Endoplasmic reticulum membrane; Multi-pass membrane protein.
|
| Tissue Specificity |
Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.
|
| Top Pathways |
Protein processing in endoplasmic reticulum
|