WFS1 - wolframin ER transmembrane glycoprotein Gene
Also Known as WFS; WFRS; WFSL; CTRCT41
Species: Homo sapiens
About WFS1
This gene has 15 transcripts (splice variants), 267 orthologues and is associated with 14 phenotypes. Ubiquitous expression in ovary (RPKM 44.4), fat (RPKM 34.2) and 24 other tissues.
Summary
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]
WFS1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001145853.1 | NP_001139325.1 | wolframin |
| NM_006005.3 | NP_005996.2 | wolframin |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATPase binding |
IPI
IPI: Inferred from physical interaction
|
17947299 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17947299 | GOA |
| enables ubiquitin protein ligase binding |
IDA
IDA: Inferred from direct assay
|
20160352 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
23035048 | GOA |
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
11181571 | GOA |
| located in secretory granule |
IDA
IDA: Inferred from direct assay
|
23035048 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
wolframin |
|
WFS1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
WFS1 | O76024 | CLPP | Homo sapiens | Q16740 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CLPP | Homo sapiens | Q16740 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CLPP | Homo sapiens | Q16740 | 32814053 | |
|
Intra
|
WFS1 | O76024 | USP2 | Homo sapiens | O75604-3 | 32814053 | |
|
Intra
|
WFS1 | O76024 | USP2 | Homo sapiens | O75604-3 | 32814053 | |
|
Intra
|
WFS1 | O76024 | USP2 | Homo sapiens | O75604-3 | 32814053 | |
|
Intra
|
WFS1 | O76024 | DYNLT1 | Homo sapiens | P63172 | 32814053 | |
|
Intra
|
WFS1 | O76024 | DYNLT1 | Homo sapiens | P63172 | 32814053 | |
|
Intra
|
WFS1 | O76024 | DYNLT1 | Homo sapiens | P63172 | 32814053 | |
|
Intra
|
WFS1 | O76024 | WWOX | Homo sapiens | Q9NZC7-5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | WWOX | Homo sapiens | Q9NZC7-5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | WWOX | Homo sapiens | Q9NZC7-5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | AQP6 | Homo sapiens | Q13520 | 32296183 | |
|
Intra
|
WFS1 | O76024 | AQP6 | Homo sapiens | Q13520 | 32296183 | |
|
Intra
|
WFS1 | O76024 | AQP6 | Homo sapiens | Q13520 | 32296183 | |
|
Intra
|
WFS1 | O76024 | GLI4 | Homo sapiens | P10075 | 32814053 | |
|
Intra
|
WFS1 | O76024 | GLI4 | Homo sapiens | P10075 | 32814053 | |
|
Intra
|
WFS1 | O76024 | GLI4 | Homo sapiens | P10075 | 32814053 | |
|
Intra
|
WFS1 | O76024 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
WFS1 | O76024 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
WFS1 | O76024 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
WFS1 | O76024 | IL18RAP | Homo sapiens | O95256 | 32814053 | |
|
Intra
|
WFS1 | O76024 | UBE2J2 | Homo sapiens | Q8N2K1 | 32814053 | |
|
Intra
|
WFS1 | O76024 | UBE2J2 | Homo sapiens | Q8N2K1 | 32814053 | |
|
Intra
|
WFS1 | O76024 | UBE2J2 | Homo sapiens | Q8N2K1 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PALS1 | Homo sapiens | Q8N3R9 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PALS1 | Homo sapiens | Q8N3R9 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PALS1 | Homo sapiens | Q8N3R9 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ANXA8 | Homo sapiens | P13928 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ANXA8 | Homo sapiens | P13928 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ANXA8 | Homo sapiens | P13928 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PXN | Homo sapiens | Q7Z7K5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PXN | Homo sapiens | Q7Z7K5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PXN | Homo sapiens | Q7Z7K5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ARNT2 | Homo sapiens | Q86TN1 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ARNT2 | Homo sapiens | Q86TN1 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ARNT2 | Homo sapiens | Q86TN1 | 32814053 | |
|
Intra
|
WFS1 | O76024 | NOTCH1 | Homo sapiens | Q6IAD4 | 32814053 | |
|
Intra
|
WFS1 | O76024 | NOTCH1 | Homo sapiens | Q6IAD4 | 32814053 | |
|
Intra
|
WFS1 | O76024 | NOTCH1 | Homo sapiens | Q6IAD4 | 32814053 | |
|
Intra
|
WFS1 | O76024 | RNF38 | Homo sapiens | Q9H0F5-2 | 32814053 | |
|
Intra
|
WFS1 | O76024 | RNF38 | Homo sapiens | Q9H0F5-2 | 32814053 | |
|
Intra
|
WFS1 | O76024 | RNF38 | Homo sapiens | Q9H0F5-2 | 32814053 | |
|
Intra
|
WFS1 | O76024 | SENP3 | Homo sapiens | Q9H4L4 | 32814053 | |
|
Intra
|
WFS1 | O76024 | SENP3 | Homo sapiens | Q9H4L4 | 32814053 | |
|
Intra
|
WFS1 | O76024 | SENP3 | Homo sapiens | Q9H4L4 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CCT2 | Homo sapiens | P78371 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CCT2 | Homo sapiens | P78371 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CCT2 | Homo sapiens | P78371 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ATP2A2 | Homo sapiens | P16615 | 25274773 | |
|
Intra
|
WFS1 | O76024 | ATP2A2 | Homo sapiens | P16615 | 25274773 | |
|
Intra
|
WFS1 | O76024 | PSMB8 | Homo sapiens | P28062-2 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PSMB8 | Homo sapiens | P28062-2 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PSMB8 | Homo sapiens | P28062-2 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PIAS1 | Homo sapiens | O75925 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PIAS1 | Homo sapiens | O75925 | 32814053 | |
|
Intra
|
WFS1 | O76024 | PIAS1 | Homo sapiens | O75925 | 32814053 | |
|
Intra
|
WFS1 | O76024 | TERF1 | Homo sapiens | P54274 | 21044950 | |
|
Intra
|
WFS1 | O76024 | POLB | Homo sapiens | P06746 | 32814053 | |
|
Intra
|
WFS1 | O76024 | POLB | Homo sapiens | P06746 | 32814053 | |
|
Intra
|
WFS1 | O76024 | POLB | Homo sapiens | P06746 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ATP1B1 | Homo sapiens | P05026 | 17947299 | |
|
Intra
|
WFS1 | O76024 | ATP1B1 | Homo sapiens | P05026 | 17947299 | |
|
Intra
|
WFS1 | O76024 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
WFS1 | O76024 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
WFS1 | O76024 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CD79A | Homo sapiens | P11912 | 32296183 | |
|
Intra
|
WFS1 | O76024 | CD79A | Homo sapiens | P11912 | 32296183 | |
|
Intra
|
WFS1 | O76024 | CD79A | Homo sapiens | P11912 | 32296183 | |
|
Intra
|
WFS1 | O76024 | ESR1 | Homo sapiens | P03372 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ESR1 | Homo sapiens | P03372 | 32814053 | |
|
Intra
|
WFS1 | O76024 | ESR1 | Homo sapiens | P03372 | 32814053 | |
|
Intra
|
WFS1 | O76024 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 | |
|
Intra
|
WFS1 | O76024 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 | |
|
Intra
|
WFS1 | O76024 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 | |
|
Intra
|
WFS1 | O76024 | RNF168 | Homo sapiens | Q8IYW5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | RNF168 | Homo sapiens | Q8IYW5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | RNF168 | Homo sapiens | Q8IYW5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CITED2 | Homo sapiens | Q99967 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CITED2 | Homo sapiens | Q99967 | 32814053 | |
|
Intra
|
WFS1 | O76024 | CITED2 | Homo sapiens | Q99967 | 32814053 | |
|
Intra
|
WFS1 | O76024 | FBLN5 | Homo sapiens | Q9UBX5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | FBLN5 | Homo sapiens | Q9UBX5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | FBLN5 | Homo sapiens | Q9UBX5 | 32814053 | |
|
Intra
|
WFS1 | O76024 | BECN1 | Homo sapiens | Q14457 | 32814053 | |
|
Intra
|
WFS1 | O76024 | BECN1 | Homo sapiens | Q14457 | 32814053 | |
|
Intra
|
WFS1 | O76024 | BECN1 | Homo sapiens | Q14457 | 32814053 | |
|
Intra
|
WFS1 | O76024 | SMURF1 | Homo sapiens | Q9HCE7-2 | 32814053 | |
|
Intra
|
WFS1 | O76024 | SMURF1 | Homo sapiens | Q9HCE7-2 | 32814053 | |
|
Intra
|
WFS1 | O76024 | SMURF1 | Homo sapiens | Q9HCE7-2 | 32814053 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Wolfram-Like Syndrome, Autosomal Dominant |
|
|
| Cataract 41 |
|
|
| Wolfram Syndrome 1 |
|
|
| Deafness, Autosomal Dominant 6 |
|
|
| Wolfram Syndrome |
|
|
| Hydronephrosis |
|
|
| Diaphragm Disease |
|
|
| Duane Retraction Syndrome 1 |
|
|
| Laryngomalacia |
|
|
| Diabetes Mellitus |
|
|
| Diaphragmatic Eventration |
|
|
| Duane Retraction Syndrome |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Night Blindness |
|
|
| Sensorineural Hearing Loss |
|
|
| Dandy-Walker Syndrome |
|
|
| Cleft Palate, Isolated |
|
|
| Early-Onset Nuclear Cataract |
|
|
| Rare Genetic Deafness |
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
|
| Diabetes Insipidus |
|
|
| Wolfram Syndrome 2 |
|
|
| Insulinoma |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Nonsyndromic Hearing Loss |
|
|
| Spastic Ataxia |
|
|
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
|
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
|
| Cranial Nerve Disease |
|
|
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
|
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
|
| Cataract |
|
|
| Neuropathy |
|
|
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
|
| Optic Atrophy 6 |
|
|
| Waardenburg Syndrome, Type 1 |
|
|
| Bipolar Disorder |
|
|
| Deafness, Autosomal Recessive 18a |
|
|
| Deafness, Autosomal Dominant 13 |
|
|
| Wolf-Hirschhorn Syndrome |
|
|
| Dipsogenic Diabetes Insipidus |
|
|
| Deafness, Autosomal Dominant 9 |
|
|
| Optic Nerve Disease |
|
|
| Asperger Syndrome |
|
|
| Deafness, Autosomal Dominant 44 |
|
|
| Infantile Cerebellar-Retinal Degeneration |
|
|
| Gestational Diabetes Insipidus |
|
|
| Neonatal Diabetes |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Auditory System Disease |
|
|
| Pontocerebellar Hypoplasia, Type 1e |
|
|
| Mood Disorder |
|
|
| Cortical Deafness |
|
|
| Permanent Neonatal Diabetes Mellitus |
|
|
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
|
| Waardenburg'S Syndrome |
|
|
| Neurogenic Bladder |
|
|
| Inner Ear Disease |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Deafness, Autosomal Dominant 4a |
|
|
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
|
| Cornelia De Lange Syndrome 1 |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Leber Plus Disease |
|
|
| Usher Syndrome |
|
|
| Peripheral Nervous System Disease |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | WFS1 | VGNC | VGNC:107478 |
| Canis familiaris | WFS1 | VGNC | VGNC:48407 |
| Rattus norvegicus | WFS1 | RGD | RGD:68954 |
| Bos taurus | WFS1 | VGNC | VGNC:36936 |
| Macaca mulatta | WFS1 | VGNC | VGNC:78793 |
| Mus musculus | WFS1 | MGD | MGI:1328355 |
| Others | WFS1 | NCBI |