Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O76024 (WFS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Wolframin
Gene names
Name:WFS1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length890 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Participates in the regulation of cellular Ca2+ homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca2+ store. Ref.7

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.

Polymorphism

Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese.

Involvement in disease

Wolfram syndrome 1 (WFS1) [MIM:222300]: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.11 Ref.18 Ref.20 Ref.21 Ref.25 Ref.26

Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.16 Ref.19 Ref.23

Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]: A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.22 Ref.24 Ref.25

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDeafness
Diabetes insipidus
Diabetes mellitus
Disease mutation
Non-syndromic deafness
   DomainTransmembrane
Transmembrane helix
   PTMAcetylation
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processER overload response

Traceable author statement PubMed 17947299. Source: BHF-UCL

ER-associated ubiquitin-dependent protein catabolic process

Inferred from sequence or structural similarity. Source: BHF-UCL

activation of signaling protein activity involved in unfolded protein response

Traceable author statement. Source: Reactome

endoplasmic reticulum calcium ion homeostasis

Inferred from direct assay Ref.7. Source: BHF-UCL

glucose homeostasis

Inferred from mutant phenotype Ref.1. Source: BHF-UCL

kidney development

Inferred from mutant phenotype Ref.1. Source: BHF-UCL

negative regulation of intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of neuron apoptotic process

Inferred from mutant phenotype Ref.2Ref.1. Source: BHF-UCL

negative regulation of sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of type B pancreatic cell apoptotic process

Inferred from mutant phenotype PubMed 16087305. Source: BHF-UCL

olfactory behavior

Inferred from electronic annotation. Source: Ensembl

polyubiquitinated misfolded protein transport

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of calcium ion transport

Inferred from direct assay Ref.7. Source: BHF-UCL

positive regulation of growth

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of protein ubiquitination

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of proteolysis

Inferred from sequence or structural similarity. Source: BHF-UCL

protein maturation by protein folding

Inferred by curator Ref.7. Source: BHF-UCL

protein stabilization

Inferred from sequence or structural similarity. Source: BHF-UCL

renal water homeostasis

Inferred from mutant phenotype Ref.1. Source: BHF-UCL

sensory perception of sound

Inferred from mutant phenotype PubMed 17492394. Source: BHF-UCL

visual perception

Inferred from mutant phenotype Ref.2Ref.1. Source: BHF-UCL

   Cellular_componentdendrite

Inferred from sequence or structural similarity PubMed 11181571. Source: BHF-UCL

integral component of endoplasmic reticulum membrane

Inferred from direct assay PubMed 11181571PubMed 14527944. Source: BHF-UCL

   Molecular_functionactivating transcription factor binding

Inferred from sequence or structural similarity. Source: BHF-UCL

transporter activity

Inferred from sequence or structural similarity. Source: BHF-UCL

ubiquitin protein ligase binding

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 890890Wolframin
PRO_0000065963

Regions

Transmembrane314 – 33421Helical; Potential
Transmembrane340 – 36021Helical; Potential
Transmembrane402 – 42221Helical; Potential
Transmembrane427 – 44721Helical; Potential
Transmembrane465 – 48521Helical; Potential
Transmembrane496 – 51621Helical; Potential
Transmembrane529 – 54921Helical; Potential
Transmembrane563 – 58321Helical; Potential
Transmembrane589 – 60921Helical; Potential
Transmembrane632 – 65221Helical; Potential
Topological domain653 – 869217Lumenal Potential
Transmembrane870 – 89021Helical; Potential
Compositional bias190 – 1934Poly-Lys
Compositional bias877 – 88610Poly-Phe

Amino acid modifications

Modified residue11N-acetylmethionine Ref.10
Glycosylation6611N-linked (GlcNAc...) Probable
Glycosylation7461N-linked (GlcNAc...) Probable

Natural variations

Natural variant161P → L.
Corresponds to variant rs34653805 [ dbSNP | Ensembl ].
VAR_032791
Natural variant581A → V in WFS1. Ref.20
VAR_011305
Natural variant1071G → R. Ref.16
VAR_032962
Natural variant1101Y → N in WFS1. Ref.21
VAR_029499
Natural variant1261A → T in WFS1. Ref.20
VAR_011306
Natural variant1331A → T in WFS1. Ref.21
VAR_014034
Natural variant1691E → K in WFS1.
VAR_009109
Natural variant1931K → Q.
Corresponds to variant rs41264699 [ dbSNP | Ensembl ].
VAR_014995
Natural variant2921P → S in WFS1.
VAR_009110
Natural variant2961I → S in WFS1.
VAR_009111
Natural variant3261A → V. Ref.21
VAR_029500
Natural variant3331V → I. Ref.1 Ref.2 Ref.3 Ref.11 Ref.15 Ref.16 Ref.18 Ref.21 Ref.23
Corresponds to variant rs1801212 [ dbSNP | Ensembl ].
VAR_005840
Natural variant3501Missing in WFS1. Ref.20
VAR_011307
Natural variant3541Missing in WFS1. Ref.20
VAR_009112
Natural variant4141Missing in WFS1. Ref.21
VAR_029501
Natural variant4151Missing in WFS1; greatly reduces protein expression compared to wild-type. Ref.21 Ref.25
VAR_009113
Natural variant4371G → R in WFS1.
VAR_009114
Natural variant4431S → I in WFS1. Ref.18
VAR_011308
Natural variant4561R → H. Ref.2 Ref.13 Ref.14 Ref.21
Corresponds to variant rs1801208 [ dbSNP | Ensembl ].
VAR_005841
Natural variant4571R → S in WFS1. Ref.21
VAR_029502
Natural variant461 – 4633Missing in WFS1.
VAR_014035
Natural variant4681Missing in WFS1. Ref.21
VAR_029503
Natural variant5041P → L in WFS1. Ref.2 Ref.20 Ref.21
Corresponds to variant rs28937892 [ dbSNP | Ensembl ].
VAR_005842
Natural variant508 – 5125Missing in WFS1.
VAR_014036
Natural variant5401Missing in WFS1. Ref.21
VAR_029504
Natural variant5581R → C in WFS1. Ref.26
VAR_068343
Natural variant5591A → T. Ref.12
Corresponds to variant rs55814513 [ dbSNP | Ensembl ].
VAR_010602
Natural variant567 – 5682Missing in WFS1.
VAR_009115
Natural variant5761G → S. Ref.13 Ref.14
Corresponds to variant rs1805069 [ dbSNP | Ensembl ].
VAR_010603
Natural variant6021A → V.
Corresponds to variant rs2230720 [ dbSNP | Ensembl ].
VAR_024554
Natural variant6111R → H. Ref.2 Ref.5 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.18 Ref.21 Ref.23
Corresponds to variant rs734312 [ dbSNP | Ensembl ].
VAR_005843
Natural variant6291R → W in WFS1. Ref.21
Corresponds to variant rs71530910 [ dbSNP | Ensembl ].
VAR_029505
Natural variant6341K → T in DFNA6. Ref.19
VAR_032963
Natural variant6531R → C in a patient with type 2 diabetes. Ref.13
VAR_014037
Natural variant6691Y → C in WFS1. Ref.1
VAR_014038
Natural variant6741G → R. Ref.20
VAR_011309
Natural variant6841A → V in WFSL; greatly reduces protein expression compared to wild-type. Ref.18 Ref.25
VAR_011310
Natural variant6901C → R in WFS1.
VAR_009116
Natural variant6951G → V in WFS1. Ref.2
Corresponds to variant rs28937891 [ dbSNP | Ensembl ].
VAR_005844
Natural variant6991T → M in DFNA6. Ref.15
Corresponds to variant rs28937894 [ dbSNP | Ensembl ].
VAR_032964
Natural variant7001W → C in WFS1.
VAR_009117
Natural variant7081R → C. Ref.18
VAR_011311
Natural variant7161A → T in DFNA6. Ref.15 Ref.16
Corresponds to variant rs28937893 [ dbSNP | Ensembl ].
VAR_032965
Natural variant7201I → V. Ref.13 Ref.14
Corresponds to variant rs1805070 [ dbSNP | Ensembl ].
VAR_010604
Natural variant7241P → L in WFS1. Ref.2
Corresponds to variant rs28937890 [ dbSNP | Ensembl ].
VAR_005845
Natural variant7361G → S in WFS1. Ref.21
VAR_009118
Natural variant7371E → K. Ref.14 Ref.20
Corresponds to variant rs147834269 [ dbSNP | Ensembl ].
VAR_011312
Natural variant7791V → M in DFNA6. Ref.15
Corresponds to variant rs141328044 [ dbSNP | Ensembl ].
VAR_032966
Natural variant7801G → R in WFS1. Ref.20
VAR_011313
Natural variant7801G → S in WFSL; mildly decreases protein expression compared to wild-type. Ref.25
VAR_068344
Natural variant7971D → Y in WFSL. Ref.25
VAR_068345
Natural variant8021I → V. Ref.21
VAR_029506
Natural variant8181R → C in WFS1. Ref.20
Corresponds to variant rs35932623 [ dbSNP | Ensembl ].
VAR_011314
Natural variant8291L → P in DFNA6. Ref.15
VAR_032967
Natural variant8311G → D in DFNA6. Ref.15
Corresponds to variant rs28937895 [ dbSNP | Ensembl ].
VAR_032968
Natural variant8361K → N in WFSL. Ref.24
VAR_068346
Natural variant8591R → Q in DFNA6. Ref.23
VAR_068347
Natural variant8641E → K in WFSL. Ref.22
VAR_032969
Natural variant8711V → M. Ref.16 Ref.21
Corresponds to variant rs71532874 [ dbSNP | Ensembl ].
VAR_014996
Natural variant8851P → L in WFS1; mild form.
VAR_009119

Sequences

Sequence LengthMass (Da)Tools
O76024 [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: 4D7F27C547004EC6

FASTA890100,292
        10         20         30         40         50         60 
MDSNTAPLGP SCPQPPPAPQ PQARSRLNAT ASLEQERSER PRAPGPQAGP GPGVRDAAAP 

        70         80         90        100        110        120 
AEPQAQHTRS RERADGTGPT KGDMEIPFEE VLERAKAGDP KAQTEVGKHY LQLAGDTDEE 

       130        140        150        160        170        180 
LNSCTAVDWL VLAAKQGRRE AVKLLRRCLA DRRGITSENE REVRQLSSET DLERAVRKAA 

       190        200        210        220        230        240 
LVMYWKLNPK KKKQVAVAEL LENVGQVNEH DGGAQPGPVP KSLQKQRRML ERLVSSESKN 

       250        260        270        280        290        300 
YIALDDFVEI TKKYAKGVIP SSLFLQDDED DDELAGKSPE DLPLRLKVVK YPLHAIMEIK 

       310        320        330        340        350        360 
EYLIDMASRA GMHWLSTIIP THHINALIFF FIVSNLTIDF FAFFIPLVIF YLSFISMVIC 

       370        380        390        400        410        420 
TLKVFQDSKA WENFRTLTDL LLRFEPNLDV EQAEVNFGWN HLEPYAHFLL SVFFVIFSFP 

       430        440        450        460        470        480 
IASKDCIPCS ELAVITGFFT VTSYLSLSTH AEPYTRRALA TEVTAGLLSL LPSMPLNWPY 

       490        500        510        520        530        540 
LKVLGQTFIT VPVGHLVVLN VSVPCLLYVY LLYLFFRMAQ LRNFKGTYCY LVPYLVCFMW 

       550        560        570        580        590        600 
CELSVVILLE STGLGLLRAS IGYFLFLFAL PILVAGLALV GVLQFARWFT SLELTKIAVT 

       610        620        630        640        650        660 
VAVCSVPLLL RWWTKASFSV VGMVKSLTRS SMVKLILVWL TAIVLFCWFY VYRSEGMKVY 

       670        680        690        700        710        720 
NSTLTWQQYG ALCGPRAWKE TNMARTQILC SHLEGHRVTW TGRFKYVRVT DIDNSAESAI 

       730        740        750        760        770        780 
NMLPFFIGDW MRCLYGEAYP ACSPGNTSTA EEELCRLKLL AKHPCHIKKF DRYKFEITVG 

       790        800        810        820        830        840 
MPFSSGADGS RSREEDDVTK DIVLRASSEF KSVLLSLRQG SLIEFSTILE GRLGSKWPVF 

       850        860        870        880        890 
ELKAISCLNC MAQLSPTRRH VKIEHDWRST VHGAVKFAFD FFFFPFLSAA 

« Hide

References

« Hide 'large scale' references
[1]"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein."
Strom T.M., Hoertnagel K., Hofmann S., Gekeler F., Scharfe C., Rabl W., Gerbitz K.-D., Meitinger T.
Hum. Mol. Genet. 7:2021-2028(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS WFS1 461-THR--VAL-463 DEL; ILE-333 AND CYS-669.
Tissue: Brain.
[2]"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome)."
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 M.A.
Nat. Genet. 20:143-148(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS WFS1 LEU-504; 508-TYR--LEU-512 DEL; VAL-695 AND LEU-724, VARIANTS ILE-333; HIS-456 AND HIS-611.
Tissue: Brain.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-333.
Tissue: Amygdala.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT HIS-611.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[7]"WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum."
Takei D., Ishihara H., Yamaguchi S., Yamada T., Tamura A., Katagiri H., Maruyama Y., Oka Y.
FEBS Lett. 580:5635-5640(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[8]"WFS1/wolframin mutations, Wolfram syndrome, and associated diseases."
Khanim F., Kirk J., Latif F., Barrett T.G.
Hum. Mutat. 17:357-367(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1."
Hardy C., Khanim F., Torres R., Scott-Brown M., Seller A., Poulton J., Collier D., Kirk J., Polymeropoulos M., Latif F., Barrett T.
Am. J. Hum. Genet. 65:1279-1290(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS WFS1, VARIANTS ILE-333 AND HIS-611.
[12]"A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases."
Furlong R.A., Ho L.W., Rubinsztein J.S., Michael A., Walsh C., Paykel E.S., Rubinsztein D.C.
Neurosci. Lett. 277:123-126(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THR-559 AND HIS-611.
[13]"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., Inoue K., Kurihara S., Ohkubo T., Inoue I., Abe T., Takino H., Kanazawa Y., Katayama S.
Biochem. Biophys. Res. Commun. 268:612-616(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-456; SER-576; HIS-611; CYS-653 AND VAL-720.
[14]"WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder."
Ohtsuki T., Ishiguro H., Yoshikawa T., Arinami T.
J. Affect. Disord. 58:11-17(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-456; SER-576; HIS-611; VAL-720 AND LYS-737.
[15]"Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss."
Bespalova I.N., Van Camp G., Bom S.J.H., Brown D.J., Cryns K., DeWan A.T., Erson A.E., Flothmann K., Kunst H.P.M., Kurnool P., Sivakumaran T.A., Cremers C.W.R.J., Leal S.M., Burmeister M., Lesperance M.M.
Hum. Mol. Genet. 10:2501-2508(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNA6 MET-699; THR-716; MET-779; PRO-829 AND ASP-831, VARIANT ILE-333.
[16]"Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1."
Young T.-L., Ives E., Lynch E., Person R., Snook S., MacLaren L., Cater T., Griffin A., Fernandez B., Lee M.K., King M.-C.
Hum. Mol. Genet. 10:2509-2514(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNA6 THR-716, VARIANTS ARG-107; ILE-333; HIS-611 AND MET-871.
[17]Erratum
Young T.L., Ives E., Lynch E., Person R., Snook S., MacLaren L., Cater T., Griffin A., Fernandez B., Lee M.K., King M.C.
Hum. Mol. Genet. 10:3111-3111(2001)
[18]"Identification of novel WFS1 mutations in Italian children with Wolfram syndrome."
Tessa A., Carbone I., Matteoli M.C., Bruno C., Patrono C., Patera I.P., De Luca F., Lorini R., Santorelli F.M.
Hum. Mutat. 17:348-349(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT WFS1 ILE-443, VARIANTS ILE-333; HIS-611; VAL-684 AND CYS-708.
[19]"Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family."
Komatsu K., Nakamura N., Ghadami M., Matsumoto N., Kishino T., Ohta T., Niikawa N., Yoshiura K.
J. Hum. Genet. 47:395-399(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNA6 THR-634.
[20]"Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees."
Gomez-Zaera M., Strom T.M., Rodriguez B., Estivill X., Meitinger T., Nunes V.
Mol. Genet. Metab. 72:72-81(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS WFS1 VAL-58; THR-126; PHE-350 DEL; PHE-354 DEL; LEU-504; ARG-780 AND CYS-818, VARIANTS ARG-674 AND LYS-737.
[21]"Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene."
Giuliano F., Bannwarth S., Monnot S., Cano A., Chabrol B., Vialettes B., Delobel B., Paquis-Flucklinger V.
Hum. Mutat. 25:99-100(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS WFS1 ASN-110; THR-133; PHE-414 DEL; VAL-415 DEL; SER-457; LEU-468 DEL; LEU-504; TRP-540 DEL; TRP-629 AND SER-736, VARIANTS VAL-326; ILE-333; HIS-456; HIS-611; VAL-802 AND MET-871.
[22]"Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene."
Eiberg H., Hansen L., Kjer B., Hansen T., Pedersen O., Bille M., Rosenberg T., Tranebjaerg L.
J. Med. Genet. 43:435-440(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT WFSL LYS-864.
[23]"Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1."
Hildebrand M.S., Sorensen J.L., Jensen M., Kimberling W.J., Smith R.J.
Am. J. Med. Genet. A 146:2258-2265(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNA6 GLN-859, VARIANTS ILE-333 AND HIS-611.
[24]"Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1."
Hogewind B.F., Pennings R.J., Hol F.A., Kunst H.P., Hoefsloot E.H., Cruysberg J.R., Cremers C.W.
Mol. Vis. 16:26-35(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT WFSL ASN-836.
[25]"Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment."
Rendtorff N.D., Lodahl M., Boulahbel H., Johansen I.R., Pandya A., Welch K.O., Norris V.W., Arnos K.S., Bitner-Glindzicz M., Emery S.B., Mets M.B., Fagerheim T., Eriksson K., Hansen L., Bruhn H., Moller C., Lindholm S., Ensgaard S., Lesperance M.M., Tranebjaerg L.
Am. J. Med. Genet. A 155:1298-1313(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS WFSL VAL-684; SER-780 AND TYR-797, VARIANT WFS1 VAL-415 DEL, CHARACTERIZATION OF VARIANTS WFSL VAL-684 AND SER-780, CHARACTERIZATION OF VARIANT WFS1 VAL-415 DEL.
[26]"Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease."
Lieber D.S., Vafai S.B., Horton L.C., Slate N.G., Liu S., Borowsky M.L., Calvo S.E., Schmahmann J.D., Mootha V.K.
BMC Med. Genet. 13:3-3(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT WFS1 CYS-558.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y18064 mRNA. Translation: CAA77022.1.
AF084481 mRNA. Translation: AAC64943.1.
AK312897 mRNA. Translation: BAG35744.1.
AC116317 Genomic DNA. No translation available.
CH471131 Genomic DNA. Translation: EAW82396.1.
CH471131 Genomic DNA. Translation: EAW82397.1.
CH471131 Genomic DNA. Translation: EAW82398.1.
BC030130 mRNA. Translation: AAH30130.1.
RefSeqNP_001139325.1. NM_001145853.1.
NP_005996.2. NM_006005.3.
UniGeneHs.518602.
Hs.727283.

3D structure databases

ProteinModelPortalO76024.
SMRO76024. Positions 82-156.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113304. 8 interactions.
IntActO76024. 3 interactions.
MINTMINT-1418252.
STRING9606.ENSP00000226760.

PTM databases

PhosphoSiteO76024.

Proteomic databases

PaxDbO76024.
PRIDEO76024.

Protocols and materials databases

DNASU7466.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000226760; ENSP00000226760; ENSG00000109501.
ENST00000503569; ENSP00000423337; ENSG00000109501.
GeneID7466.
KEGGhsa:7466.
UCSCuc003gix.3. human.

Organism-specific databases

CTD7466.
GeneCardsGC04P006271.
H-InvDBHIX0004060.
HGNCHGNC:12762. WFS1.
HPAHPA029128.
MIM222300. phenotype.
600965. phenotype.
606201. gene.
614296. phenotype.
neXtProtNX_O76024.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
98991. Nuclear cataract.
3463. Wolfram syndrome.
PharmGKBPA37365.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG82472.
HOGENOMHOG000132944.
HOVERGENHBG014957.
InParanoidO76024.
KOK14020.
OMAGWNHLEP.
OrthoDBEOG7F24S4.
PhylomeDBO76024.
TreeFamTF326849.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressO76024.
BgeeO76024.
CleanExHS_WFS1.
GenevestigatorO76024.

Family and domain databases

InterProIPR026208. Wolframin.
IPR026209. Wolframin_fam.
[Graphical view]
PANTHERPTHR13098. PTHR13098. 1 hit.
PRINTSPR02060. WOLFFAMILY.
PR02061. WOLFRAMIN.
ProtoNetSearch...

Other

GeneWikiWFS1.
GenomeRNAi7466.
NextBio29240.
PROO76024.
SOURCESearch...

Entry information

Entry nameWFS1_HUMAN
AccessionPrimary (citable) accession number: O76024
Secondary accession number(s): B2R797 expand/collapse secondary AC list , D3DVT1, Q8N6I3, Q9UNW6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 11, 2011
Last modified: March 19, 2014
This is version 140 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM