WFS1: Difference between revisions

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{{Infobox_gene}}
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'''Wolframin''' is a [[protein]] that in humans is encoded by the ''WFS1'' [[gene]].<ref name="pmid7987399">{{cite journal | vauthors = Polymeropoulos MH, Swift RG, Swift M | title = Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 | journal = Nat Genet | volume = 8 | issue = 1 | pages = 95–7 |date=Jan 1995 | pmid = 7987399 | pmc =  | doi = 10.1038/ng0994-95 }}</ref><ref name="pmid9771706">{{cite journal | vauthors = Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA | title = A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) | journal = Nat Genet | volume = 20 | issue = 2 | pages = 143–8 |date=Oct 1998 | pmid = 9771706 | pmc =  | doi = 10.1038/2441 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7466| accessdate = }}</ref>
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==Function==
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Wolframin is a transmembrane protein.<ref name="entrez"/> Wolframin appears to function as a cation-selective ion channel.<ref name="pmid14527944">{{cite journal | vauthors = Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M | title = Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium | journal = J. Biol. Chem. | volume = 278 | issue = 52 | pages = 52755–62 |date=December 2003 | pmid = 14527944 | doi = 10.1074/jbc.M310331200 | url = | issn = }}</ref>
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==Clinical significance==


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
Mutations in this gene are associated with an [[autosomal recessive]] syndrome characterized by insulin-dependent diabetes mellitus and bilateral progressive optic atrophy, usually presenting in childhood or early adult life. Diverse neurologic symptoms, including a predisposition to psychiatric illness, may also be associated with this disorder. A large number and variety of mutations in this gene, particularly in exon 8, can be associated with this syndrome. Mutations in this gene can also cause [[nonsyndromic deafness|autosomal dominant deafness]] 6 (DFNA6), also known as DFNA14 or DFNA38.<ref name="entrez"/>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Wolfram syndrome 1 (wolframin)
| HGNCid = 12762
| Symbol = WFS1
| AltSymbols =; DFNA14; DFNA38; DFNA6; DIDMOAD; WFRS; WFS; WOLFRAMIN
| OMIM = 606201
| ECnumber = 
| Homologene = 4380
| MGIid = 1328355
| GeneAtlas_image1 = PBB_GE_WFS1_202908_at_tn.png
| Function =
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006091 |text = generation of precursor metabolites and energy}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7466
    | Hs_Ensembl = ENSG00000109501
    | Hs_RefseqProtein = NP_005996
    | Hs_RefseqmRNA = NM_006005
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 4
    | Hs_GenLoc_start = 6322478
    | Hs_GenLoc_end = 6355893
    | Hs_Uniprot = O76024
    | Mm_EntrezGene = 22393
    | Mm_Ensembl = ENSMUSG00000039474
    | Mm_RefseqmRNA = NM_011716
    | Mm_RefseqProtein = NP_035846
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 37254356
    | Mm_GenLoc_end = 37277167
    | Mm_Uniprot = Q3TDI2
  }}
}}
'''Wolfram syndrome 1 (wolframin)''', also known as '''WFS1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7466| accessdate = }}</ref>


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Mutations in this gene have also been associated with [[congenital cataract]]s.<ref name="Berry_2013">{{cite journal | vauthors = Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS | title = Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans | journal = Eur. J. Hum. Genet. | volume = 21| issue = 12| pages = 1356–60|date=March 2013 | pmid = 23531866 | doi = 10.1038/ejhg.2013.52 | pmc=3831071}}</ref>
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a transmembrane protein. Mutations in this gene are associated with an autosomal recessive syndrome characterized by insulin-dependent diabetes mellitus and bilateral progressive optic atrophy, usually presenting in childhood or early adult life. Diverse neurologic symptoms, including a predisposition to psychiatric illness, may also be associated with this disorder. A large number and variety of mutations in this gene, particularly in exon 8, can be associated with this syndrome. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38.<ref name="entrez">{{cite web | title = Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7466| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Khanim F, Kirk J, Latif F, Barrett TG |title=WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. |journal=Hum. Mutat. |volume=17 |issue= 5 |pages= 357-67 |year= 2001 |pmid= 11317350 |doi= 10.1002/humu.1110 }}
*{{cite journal  | vauthors=Khanim F, Kirk J, Latif F, Barrett TG |title=WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. |journal=Hum. Mutat. |volume=17 |issue= 5 |pages= 357–67 |year= 2001 |pmid= 11317350 |doi= 10.1002/humu.1110 }}
*{{cite journal | author=Cryns K, Sivakumaran TA, Van den Ouweland JM, ''et al.'' |title=Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. |journal=Hum. Mutat. |volume=22 |issue= 4 |pages= 275-87 |year= 2004 |pmid= 12955714 |doi= 10.1002/humu.10258 }}
*{{cite journal   |vauthors=Cryns K, Sivakumaran TA, Van den Ouweland JM, etal |title=Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. |journal=Hum. Mutat. |volume=22 |issue= 4 |pages= 275–87 |year= 2004 |pmid= 12955714 |doi= 10.1002/humu.10258 }}
*{{cite journal  | author=McHugh RK, Friedman RA |title=Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. |journal=The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology |volume=288 |issue= 4 |pages= 370-81 |year= 2006 |pmid= 16550584 |doi= 10.1002/ar.a.20297 }}
*{{cite journal  | vauthors=McHugh RK, Friedman RA |title=Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. |journal=The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology |volume=288 |issue= 4 |pages= 370–81 |year= 2006 |pmid= 16550584 |doi= 10.1002/ar.a.20297 }}
*{{cite journal | author=Polymeropoulos MH, Swift RG, Swift M |title=Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. |journal=Nat. Genet. |volume=8 |issue= 1 |pages= 95-7 |year= 1995 |pmid= 7987399 |doi= 10.1038/ng0994-95 }}
*{{cite journal   |vauthors=Lesperance MM, Hall JW, Bess FH, etal |title=A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. |journal=Hum. Mol. Genet. |volume=4 |issue= 10 |pages= 1967–72 |year= 1996 |pmid= 8595423 |doi=10.1093/hmg/4.10.1967  }}
*{{cite journal | author=Lesperance MM, Hall JW, Bess FH, ''et al.'' |title=A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. |journal=Hum. Mol. Genet. |volume=4 |issue= 10 |pages= 1967-72 |year= 1996 |pmid= 8595423 |doi=  }}
*{{cite journal   |vauthors=Strom TM, Hörtnagel K, Hofmann S, etal |title=Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. |journal=Hum. Mol. Genet. |volume=7 |issue= 13 |pages= 2021–8 |year= 1999 |pmid= 9817917 |doi=10.1093/hmg/7.13.2021 }}
*{{cite journal | author=Inoue H, Tanizawa Y, Wasson J, ''et al.'' |title=A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). |journal=Nat. Genet. |volume=20 |issue= 2 |pages= 143-8 |year= 1998 |pmid= 9771706 |doi= 10.1038/2441 }}
*{{cite journal   |vauthors=Van Camp G, Kunst H, Flothmann K, etal |title=A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. |journal=J. Med. Genet. |volume=36 |issue= 7 |pages= 532–6 |year= 1999 |pmid= 10424813 |doi= 10.1136/jmg.36.7.532 | pmc=1734405  }}
*{{cite journal | author=Strom TM, Hörtnagel K, Hofmann S, ''et al.'' |title=Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. |journal=Hum. Mol. Genet. |volume=7 |issue= 13 |pages= 2021-8 |year= 1999 |pmid= 9817917 |doi=  }}
*{{cite journal   |vauthors=Hardy C, Khanim F, Torres R, etal |title=Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. |journal=Am. J. Hum. Genet. |volume=65 |issue= 5 |pages= 1279–90 |year= 1999 |pmid= 10521293 |doi=10.1086/302609  | pmc=1288280 }}
*{{cite journal | author=Van Camp G, Kunst H, Flothmann K, ''et al.'' |title=A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. |journal=J. Med. Genet. |volume=36 |issue= 7 |pages= 532-6 |year= 1999 |pmid= 10424813 |doi=  }}
*{{cite journal   |vauthors=Furlong RA, Ho LW, Rubinsztein JS, etal |title=A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases. |journal=Neurosci. Lett. |volume=277 |issue= 2 |pages= 123–6 |year= 2000 |pmid= 10624825 |doi=10.1016/S0304-3940(99)00865-4 }}
*{{cite journal | author=Hardy C, Khanim F, Torres R, ''et al.'' |title=Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. |journal=Am. J. Hum. Genet. |volume=65 |issue= 5 |pages= 1279-90 |year= 1999 |pmid= 10521293 |doi= }}
*{{cite journal   |vauthors=Awata T, Inoue K, Kurihara S, etal |title=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. |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 2 |pages= 612–6 |year= 2000 |pmid= 10679252 |doi= 10.1006/bbrc.2000.2169 }}
*{{cite journal  | author=Furlong RA, Ho LW, Rubinsztein JS, ''et al.'' |title=A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases. |journal=Neurosci. Lett. |volume=277 |issue= 2 |pages= 123-6 |year= 2000 |pmid= 10624825 |doi=  }}
*{{cite journal  | vauthors=Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T |title=WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. |journal=Journal of Affective Disorders |volume=58 |issue= 1 |pages= 11–7 |year= 2000 |pmid= 10760554 |doi=10.1016/S0165-0327(99)00099-3 }}
*{{cite journal | author=Awata T, Inoue K, Kurihara S, ''et al.'' |title=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. |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 2 |pages= 612-6 |year= 2000 |pmid= 10679252 |doi= 10.1006/bbrc.2000.2169 }}
*{{cite journal   |vauthors=Gómez-Zaera M, Strom TM, Rodríguez B, etal |title=Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. |journal=Mol. Genet. Metab. |volume=72 |issue= 1 |pages= 72–81 |year= 2001 |pmid= 11161832 |doi= 10.1006/mgme.2000.3107 }}
*{{cite journal  | author=Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T |title=WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. |journal=Journal of affective disorders |volume=58 |issue= 1 |pages= 11-7 |year= 2000 |pmid= 10760554 |doi=  }}
*{{cite journal  | vauthors=Kaytor EN, Zhu JL, Pao CI, Phillips LS |title=Physiological concentrations of insulin promote binding of nuclear proteins to the insulin-like growth factor I gene. |journal=Endocrinology |volume=142 |issue= 3 |pages= 1041–9 |year= 2001 |pmid= 11181517 |doi=10.1210/en.142.3.1041 }}
*{{cite journal | author=Gómez-Zaera M, Strom TM, Rodríguez B, ''et al.'' |title=Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. |journal=Mol. Genet. Metab. |volume=72 |issue= 1 |pages= 72-81 |year= 2001 |pmid= 11161832 |doi= 10.1006/mgme.2000.3107 }}
*{{cite journal   |vauthors=Takeda K, Inoue H, Tanizawa Y, etal |title=WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. |journal=Hum. Mol. Genet. |volume=10 |issue= 5 |pages= 477–84 |year= 2001 |pmid= 11181571 |doi=10.1093/hmg/10.5.477  }}
*{{cite journal | author=Kaytor EN, Zhu JL, Pao CI, Phillips LS |title=Physiological concentrations of insulin promote binding of nuclear proteins to the insulin-like growth factor I gene. |journal=Endocrinology |volume=142 |issue= 3 |pages= 1041-9 |year= 2001 |pmid= 11181517 |doi= }}
*{{cite journal   |vauthors=Tessa A, Carbone I, Matteoli MC, etal |title=Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. |journal=Hum. Mutat. |volume=17 |issue= 4 |pages= 348–9 |year= 2001 |pmid= 11295831 |doi= 10.1002/humu.32 }}
*{{cite journal | author=Takeda K, Inoue H, Tanizawa Y, ''et al.'' |title=WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. |journal=Hum. Mol. Genet. |volume=10 |issue= 5 |pages= 477-84 |year= 2001 |pmid= 11181571 |doi=  }}
*{{cite journal   |vauthors=Bespalova IN, Van Camp G, Bom SJ, etal |title=Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. |journal=Hum. Mol. Genet. |volume=10 |issue= 22 |pages= 2501–8 |year= 2002 |pmid= 11709537 |doi=10.1093/hmg/10.22.2501 }}
*{{cite journal | author=Tessa A, Carbone I, Matteoli MC, ''et al.'' |title=Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. |journal=Hum. Mutat. |volume=17 |issue= 4 |pages= 348-9 |year= 2001 |pmid= 11295831 |doi= 10.1002/humu.32 }}
*{{cite journal   |vauthors=Young TL, Ives E, Lynch E, etal |title=Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. |journal=Hum. Mol. Genet. |volume=10 |issue= 22 |pages= 2509–14 |year= 2002 |pmid= 11709538 |doi=10.1093/hmg/10.22.2509  }}
*{{cite journal | author=Bespalova IN, Van Camp G, Bom SJ, ''et al.'' |title=Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. |journal=Hum. Mol. Genet. |volume=10 |issue= 22 |pages= 2501-8 |year= 2002 |pmid= 11709537 |doi= }}
*{{cite journal   |vauthors=Crawford J, Zielinski MA, Fisher LJ, etal |title=Is there a relationship between Wolfram syndrome carrier status and suicide? |journal=Am. J. Med. Genet. |volume=114 |issue= 3 |pages= 343–6 |year= 2002 |pmid= 11920861 |doi=10.1002/ajmg.10256 }}
*{{cite journal  | author=Young TL, Ives E, Lynch E, ''et al.'' |title=Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. |journal=Hum. Mol. Genet. |volume=10 |issue= 22 |pages= 2509-14 |year= 2002 |pmid= 11709538 |doi=  }}
*{{cite journal  | author=Crawford J, Zielinski MA, Fisher LJ, ''et al.'' |title=Is there a relationship between Wolfram syndrome carrier status and suicide? |journal=Am. J. Med. Genet. |volume=114 |issue= 3 |pages= 343-6 |year= 2002 |pmid= 11920861 |doi= }}
}}
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{{protein-stub}}
==External links==
{{WikiDoc Sources}}
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=wfs  GeneReviews/NCBI/NIH/UW entry on WFS1-Related Disorders]
 
{{NLM content}}
 
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{{gene-4-stub}}

Latest revision as of 22:36, 17 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

Wolframin is a protein that in humans is encoded by the WFS1 gene.[1][2][3]

Function

Wolframin is a transmembrane protein.[3] Wolframin appears to function as a cation-selective ion channel.[4]

Clinical significance

Mutations in this gene are associated with an autosomal recessive syndrome characterized by insulin-dependent diabetes mellitus and bilateral progressive optic atrophy, usually presenting in childhood or early adult life. Diverse neurologic symptoms, including a predisposition to psychiatric illness, may also be associated with this disorder. A large number and variety of mutations in this gene, particularly in exon 8, can be associated with this syndrome. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38.[3]

Mutations in this gene have also been associated with congenital cataracts.[5]

References

  1. ↑ Polymeropoulos MH, Swift RG, Swift M (Jan 1995). "Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4". Nat Genet. 8 (1): 95–7. doi:10.1038/ng0994-95. PMID 7987399.
  2. ↑ Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA (Oct 1998). "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)". Nat Genet. 20 (2): 143–8. doi:10.1038/2441. PMID 9771706.
  3. ↑ 3.0 3.1 3.2 "Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)".
  4. ↑ Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M (December 2003). "Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium". J. Biol. Chem. 278 (52): 52755–62. doi:10.1074/jbc.M310331200. PMID 14527944.
  5. ↑ Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS (March 2013). "Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans". Eur. J. Hum. Genet. 21 (12): 1356–60. doi:10.1038/ejhg.2013.52. PMC 3831071. PMID 23531866.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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