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| # | Reference Title | Reference Citation |
| 1. | Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. | Awata T, etal., Biochem Biophys Res Commun. 2000 Feb 16;268(2):612-6. |
| 2. | Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. | Bespalova IN, etal., Hum Mol Genet. 2001 Oct 15;10(22):2501-8. |
| 3. | A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients. | Chistiakov DA, etal., Rev Diabet Stud. 2010 Winter;7(4):285-92. doi: 10.1900/RDS.2010.7.285. Epub 2011 Feb 10. |
| 4. | The wolframin His611Arg polymorphism influences medication overuse headache. | Di Lorenzo C, etal., Neurosci Lett. 2007 Sep 13;424(3):179-84. Epub 2007 Aug 6. |
| 5. | WFS1 mutations in Spanish patients with diabetes mellitus and deafness. | Domenech E, etal., Eur J Hum Genet. 2002 Jul;10(7):421-6. |
| 6. | Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. | Florez JC, etal., Diabetologia. 2008 Mar;51(3):451-7. Epub 2007 Dec 4. |
| 7. | Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. | Fonseca SG, etal., J Clin Invest. 2010 Mar;120(3):744-55. doi: 10.1172/JCI39678. Epub 2010 Feb 15. |
| 8. | Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. | Franks PW, etal., Diabetologia. 2008 Mar;51(3):458-63. Epub 2007 Nov 27. |
| 9. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 10. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 11. | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). | Inoue H, etal., Nat Genet. 1998 Oct;20(2):143-8. |
| 12. | Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. | Ishihara H, etal., Hum Mol Genet. 2004 Jun 1;13(11):1159-70. Epub 2004 Mar 31. |
| 13. | WFS1 gene as a putative biomarker for development of post-traumatic syndrome in an animal model. | Kesner Y, etal., Mol Psychiatry. 2009 Jan;14(1):86-94. Epub 2007 Oct 30. |
| 14. | Cat odour exposure increases the expression of wolframin gene in the amygdaloid area of rat. | Koks S, etal., Neurosci Lett. 2002 Apr 5;322(2):116-20. |
| 15. | WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims. | Kytovuori L, etal., J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18. |
| 16. | Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene. | Larsen ZM, etal., Diabet Med. 2004 Mar;21(3):218-22. |
| 17. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 18. | Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. | Minton JA, etal., Diabetes. 2002 Apr;51(4):1287-90. |
| 19. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 20. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 21. | CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes. | Peng D, etal., Sci Rep. 2017 Aug 18;7(1):8812. doi: 10.1038/s41598-017-09010-w. |
| 22. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 23. | Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. | Plaas M, etal., Sci Rep. 2017 Aug 31;7(1):10220. doi: 10.1038/s41598-017-09392-x. |
| 24. | Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. | Rendtorff ND, etal., Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. |
| 25. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 26. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 27. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 28. | Molecular anatomy of a trafficking organelle. | Takamori S, etal., Cell. 2006 Nov 17;127(4):831-46. |
| 29. | WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. | Takeda K, etal., Hum Mol Genet 2001 Mar 1;10(5):477-84. |
| 30. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
| 31. | Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome. | Toots M, etal., Sci Rep. 2018 Jul 5;8(1):10183. doi: 10.1038/s41598-018-28314-z. |
| 32. | Expression and localization of Wolfram syndrome 1 gene in the developing rat pancreas. | Xu R, etal., World J Gastroenterol. 2009 Nov 21;15(43):5425-31. |
| 33. | Identification and characterization of wolframin, the product of the wolfram syndrome gene (WFS1), as a novel calmodulin-binding protein. | Yurimoto S, etal., Biochemistry. 2009 May 12;48(18):3946-55. doi: 10.1021/bi900260y. |
| 34. | The microtubule interacting drug candidate NAP protects against kainic acid toxicity in a rat model of epilepsy. | Zemlyak I, etal., J Neurochem. 2009 Dec;111(5):1252-63. doi: 10.1111/j.1471-4159.2009.06415.x. Epub 2009 Oct 3. |
| PMID:9817917 | PMID:14527944 | PMID:15994758 | PMID:16087305 | PMID:16571599 | PMID:16989814 | PMID:17110338 | PMID:17492394 | PMID:17947299 | PMID:19293327 | PMID:19911006 | PMID:32632005 |
| PMID:34495404 | PMID:34828323 | PMID:36725880 |
| Wfs1 (Rattus norvegicus - Norway rat) |
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| WFS1 (Homo sapiens - human) |
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| Wfs1 (Mus musculus - house mouse) |
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| Wfs1 (Chinchilla lanigera - long-tailed chinchilla) |
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| WFS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| WFS1 (Canis lupus familiaris - dog) |
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| Wfs1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| WFS1 (Sus scrofa - pig) |
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| WFS1 (Chlorocebus sabaeus - green monkey) |
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| Wfs1 (Heterocephalus glaber - naked mole-rat) |
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| Wfs1 (Rattus rattus - black rat) |
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.
Variants in Wfs1
129 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 11 | 67 | 161 | 91 | 90 | 59 | 92 | 59 | 6 | 355 | 191 | 9 | 140 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_031823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| GenBank Nucleotide | AF136378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH473963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000034730 ⟹ ENSRNOP00000032218 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000109032 ⟹ ENSRNOP00000087329 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_031823 ⟹ NP_114011 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_114011 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | AAF61423 | (Get FASTA) | NCBI Sequence Viewer |
| EDM00031 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000032218 | ||
| ENSRNOP00000032218.4 |
| RefSeq Acc Id: | NP_114011 ⟸ NM_031823 |
| - UniProtKB: | Q9JLT5 (UniProtKB/TrEMBL), A6IJW7 (UniProtKB/TrEMBL), E9PT53 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000032218 ⟸ ENSRNOT00000034730 |
| Ensembl Acc Id: | ENSRNOP00000087329 ⟸ ENSRNOT00000109032 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-E9PT53-F1-model_v2 | AlphaFold | E9PT53 | 1-890 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13699375 | ||||||||
| Promoter ID: | EPDNEW_R9900 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Wfs1_1 | ||||||||
| Description: | wolframin ER transmembrane glycoprotein | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:68954 | AgrOrtholog |
| BioCyc Gene | G2FUF-15350 | BioCyc |
| Ensembl Genes | ENSRNOG00000005108 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000034730 | ENTREZGENE |
| ENSRNOT00000034730.6 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.25.40.10 | UniProtKB/TrEMBL |
| InterPro | TPR-like_helical_dom_sf | UniProtKB/TrEMBL |
| Wolframin | UniProtKB/TrEMBL | |
| Wolframin_Cys-rich | UniProtKB/TrEMBL | |
| Wolframin_EF-hand | UniProtKB/TrEMBL | |
| Wolframin_fam | UniProtKB/TrEMBL | |
| Wolframin_OB_fold | UniProtKB/TrEMBL | |
| Wolframin_Sel1-like_rpt | UniProtKB/TrEMBL | |
| KEGG Report | rno:83725 | UniProtKB/TrEMBL |
| NCBI Gene | 83725 | ENTREZGENE |
| PANTHER | PTHR13098 | UniProtKB/TrEMBL |
| WOLFRAMIN | UniProtKB/TrEMBL | |
| Pfam | WC-rich | UniProtKB/TrEMBL |
| WCOB | UniProtKB/TrEMBL | |
| WEF-hand | UniProtKB/TrEMBL | |
| WSLR | UniProtKB/TrEMBL | |
| PhenoGen | Wfs1 | PhenoGen |
| PRINTS | WOLFFAMILY | UniProtKB/TrEMBL |
| WOLFRAMIN | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000005108 | RatGTEx |
| TIGR | TC230134 | |
| UniProt | A6IJW7 | ENTREZGENE, UniProtKB/TrEMBL |
| E9PT53 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9JLT5 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-24 | Wfs1 | wolframin ER transmembrane glycoprotein | Wfs1 | Wolfram syndrome 1 (wolframin) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2013-02-04 | Wfs1 | Wolfram syndrome 1 (wolframin) | Wfs1 | Wolfram syndrome 1 homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-30 | Wfs1 | Wolfram syndrome 1 homolog (human) | Wolfram syndrome 1 | Name updated | 1299863 | APPROVED | |
| 2002-06-10 | Wfs1 | Wolfram syndrome 1 | Symbol and Name status set to approved | 70586 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_disease | associated with Wolfram (DIDMOAD) syndrome | 62397 |
| gene_expression | expressed in neurons in the hippocampus CA1, amygdaloid areas, olfactory tubercle and superficial layer of the allocortex | 62397 |
| gene_process | may function in emotional, behavioral and visceral control | 62397 |
| gene_process | may be involved in membrane trafficking, protein processing and/or regulation of ER calcium homeostasis | 62397 |