| Type | Description |
|---|---|
| Definition | wolframin ER transmembrane glycoprotein |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:48:00 | Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome. | 31363008 |
| 2020-11-21 13:19:00 | Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. | 30957632 |
| 2020-09-26 13:07:00 | A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. | 32382995 |
| 2020-07-11 11:53:00 | Nonsyndromic diabetes with WSF1 mutations is not rare in Chinese. Its response to alternative treatments should be investigated. | 31658956 |
| 2020-06-13 11:58:00 | Our study revealed that transcription and translation of WFS1, CRH, and UCN were altered during pregnancies complicated by early-onset intrahepatic cholestasis of pregnancy (ICP). This disrupted compensatory response mediated by WFS1 and CRH family peptides in early-onset ICP may play a significant role in the pathogenesis of sudden fetal death in acute fetal hypoxia. | 31477210 |
| Type | IDs |
|---|---|
| Synonymous | CTRCT41, WFRS, WFS, WFSL |
| Gene |
UniProtKB-ID:
WFS1_HUMAN,
A0A0S2Z4V6_HUMAN
UniprotKB:
O76024,
A0A0S2Z4V6
UniParc:
UPI00000715C3
EMBL:
BC030130,
Y18064,
AF084481,
AC116317,
KU178395,
AK312897,
CH471131
Ensembl:
ENSG00000109501
KO:
hsa:7466
|
| Nucleutide sequences |
EMBL-CDS:
EAW82398.1,
BAG35744.1,
EAW82396.1,
EAW82397.1,
AAC64943.1,
CAA77022.1,
AAH30130.1,
ALQ33853.1
Ensembl_TRS:
ENST00000503569,
ENST00000226760
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000226760,
ENSP00000423337
RefSeq:
XP_016864075.1,
NP_005996.2,
NP_001139325.1
|
| Others |
UniRef100:
UniRef100_O76024
UniRef90:
UniRef90_O76024
UniRef50:
UniRef50_O76024
UniGene:
Hs.518602,
Hs.727283
CCDS:
CCDS3386.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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