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Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 1, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_006005 Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 1, mRNA. Full Lenth $1274.00
ORF Sequence $775.17


RefSeq Version NM_006005.3, 224994202
Length 3640 bp
Structure linear
Update Date 27-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 1, mRNA.
Product wolframin
Comment

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].


Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.

RefSeq NP_005996.2
CDS 171..2843
Exon (1)1..165
Exon (2)1..165
Exon (3)166..402
Exon (4)403..485
Exon (5)486..630
Exon (6)631..801
Exon (7)802..882
Exon (8)883..1031
Exon (9)1032..3640
Translation MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAP AEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEE LNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAA LVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKN YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIK EYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVIC TLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFP IASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMW CELSVVILLESTGLGLLRASIGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVT VAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVY NSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVG MPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVF ELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA
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Position Chain Variation Link
47+g, tdbSNP:72616117
51+c, tdbSNP:71584490
86+c, gdbSNP:71524390
179+c, tdbSNP:71524363
complement(217)-g, adbSNP:34653805
241+a, gdbSNP:71524364
255+c, gdbSNP:71530922
266+a, gdbSNP:71539660
294+c, tdbSNP:71530923
324+a, cdbSNP:111773340
338+c, tdbSNP:112598170
346+c, tdbSNP:71524365
365+c, tdbSNP:71530924
complement(395)-g, adbSNP:35216268
487..488+, gdbSNP:34907923
490+a, gdbSNP:71530914
495+c, tdbSNP:112871383
523+a, cdbSNP:71524349
552+g, tdbSNP:71524350
complement(607)-c, adbSNP:34446752
619+c, tdbSNP:113651985
631+c, gdbSNP:71530927
641+c, tdbSNP:71524347
652+a, gdbSNP:115346085
674+c, tdbSNP:71537675
747+a, cdbSNP:41264699
778+a, gdbSNP:71537676
782+c, tdbSNP:71537677
813+c, tdbSNP:71530928
846+c, tdbSNP:104893880
854+c, gdbSNP:1801213
894+a, gdbSNP:71524380
896+c, tdbSNP:71524381
1024+a, gdbSNP:61735404
1032+a, gdbSNP:71537685
1100+a, gdbSNP:115561278
1149+a, cdbSNP:71537678
1167+a, gdbSNP:1801212
1193+c, tdbSNP:56072215
1304+a, cdbSNP:71530904
1323+a, gdbSNP:71524353
1328+c, tdbSNP:71524354
1355+c, tdbSNP:1801206
1358+c, tdbSNP:71524355
1407+g, tdbSNP:71524356
1420+c, tdbSNP:111570388
complement(1447)-t, cdbSNP:35218685
1457+c, tdbSNP:1801207
complement(1464)-g, cdbSNP:35031397
1478+c, tdbSNP:71539646
1537+a, gdbSNP:1801208
1541+g, tdbSNP:113446173
1545+c, tdbSNP:1801209
1552+c, gdbSNP:71530925
1560+a, cdbSNP:74834612
1563+a, gdbSNP:71524357
1565+c, tdbSNP:71530905
1662+a, gdbSNP:71524358
1665+c, tdbSNP:114152068
1670+a, c, g, tdbSNP:1801214
1681+c, tdbSNP:28937892
complement(1700)-g, adbSNP:35789242
1814+c, gdbSNP:71539648
1815+c, tdbSNP:1801211
1844+c, tdbSNP:61735402
1845+a, gdbSNP:55814513
1853+c, tdbSNP:71530906
1883+c, gdbSNP:71524359
1894+c, gdbSNP:71524360
1895+c, tdbSNP:2230719
1896+a, gdbSNP:1805069
1922+c, gdbSNP:76577786
1925+c, tdbSNP:1801210
1930+a, gdbSNP:71539657
complement(1931)-g, cdbSNP:35568345
1940+a, gdbSNP:71532858
1967+a, cdbSNP:71524361
1970+c, tdbSNP:71524362
1975+c, tdbSNP:2230720
1995+c, tdbSNP:71532859
2002+a, gdbSNP:734312
2054+g, tdbSNP:71532860
2055+c, tdbSNP:71530910
2071+a, cdbSNP:104893882
2101..2108+, tgctgttcdbSNP:71526457
2106..2113+, ttctgctgdbSNP:71524374
2114+a, gdbSNP:104893879
2139+a, gdbSNP:71532861
2182+c, tdbSNP:71530907
2189+c, tdbSNP:71524375
2217+a, gdbSNP:71524376
2222+a, gdbSNP:71539668
2223+c, tdbSNP:112967046
2254+g, tdbSNP:28937891
2266+c, tdbSNP:28937894
2273+c, gdbSNP:113800346
2274+a, gdbSNP:71532862
2289+a, gdbSNP:71524377
2294+c, tdbSNP:61735401
2316+a, gdbSNP:28937893
2319+a, gdbSNP:71532863
2328+a, gdbSNP:1805070
2341+c, tdbSNP:28937890
2354+c, tdbSNP:71530908
2364+c, tdbSNP:71526458
2375+c, tdbSNP:71530911
2376+a, gdbSNP:71532864
2377+a, gdbSNP:71530912
2394+c, tdbSNP:71532865
2396+c, gdbSNP:71532866
2417+a, gdbSNP:75096624
2452+c, tdbSNP:71526459
complement(2480)-g, adbSNP:34384569
2486+c, tdbSNP:71532867
2492+a, gdbSNP:2230721
2497+a, tdbSNP:56002719
2504+c, tdbSNP:71526460
2517+c, tdbSNP:71526461
2526+a, gdbSNP:71578980
2547+c, tdbSNP:71526462
2547+cgc, gagdbSNP:71526463
2558+c, tdbSNP:71532868
2568+a, gdbSNP:55674815
2594+c, tdbSNP:56035336
2595+a, gdbSNP:71539673
2603+a, gdbSNP:1046314
complement(2622)-g, adbSNP:35932623
2625+c, tdbSNP:104893881
2635..2637+, tcadbSNP:71528899
2639+c, tdbSNP:1801215
2656+c, tdbSNP:104893883
2662+a, gdbSNP:28937895
2694+c, tdbSNP:71530915
2735+a, gdbSNP:1046316
2759+c, gdbSNP:71524393
2760+a, gdbSNP:74315205
2766+a, gdbSNP:3821945
2773+a, gdbSNP:56393026
2781+a, gdbSNP:71532874
2819+, cdbSNP:71524394
2828+c, tdbSNP:55973732
2837+a, gdbSNP:71526454
2852+c, gdbSNP:71537669
2890+c, tdbSNP:1046317
2897+a, gdbSNP:71526455
2912+c, tdbSNP:71530916
2913+a, gdbSNP:56192009
2933+a, gdbSNP:1802453
2934+c, tdbSNP:1046319
2940+, cdbSNP:71530917
2974+c, gdbSNP:55993016
2977+, cdbSNP:71530918
2978+, cdbSNP:56067149
2992+a, gdbSNP:1046320
3084+c, tdbSNP:60985011
3085+c, gdbSNP:80055761
3096+a, gdbSNP:1046322
3103+c, gdbSNP:71530909
3117+a, gdbSNP:1046325
3131+c, tdbSNP:56072224
3175+c, gdbSNP:117414627
3176+a, cdbSNP:111800114
3199..3202+, tcttdbSNP:71537670
3201+c, tdbSNP:71530919
3209..3212+, ttttdbSNP:71537671
3237+a, cdbSNP:117629385
3273+, atdbSNP:71741747
3291+a, tdbSNP:113513950
3294+c, tdbSNP:71537672
3331+a, gdbSNP:114928343
3339+c, gdbSNP:75810305
3355+c, tdbSNP:71528900
3410+c, gdbSNP:12508118
3447+c, gdbSNP:9457
3464+c, tdbSNP:71537673
3480+c, tdbSNP:71528901
complement(3526)-t, g, adbSNP:3200
3564..3567+, ctgadbSNP:71537674
Gene SymbolWFS1
Gene SynonymFLJ51211; WFRS; WFS
Chromosome4
Locus Map4p16
All Transcripts NM_006005 , NM_001145853
Title Novel mutations of wolframin: a report with a look at the protein structure .
Author Alimadadi,A., Ebrahim-Habibi,A., Abbasi,F., Amoli,M., Sayahpour,F.A. and Larijani,B.
Journal Clin. Genet. 79 (1), 96-99 (2011)
Title Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms .
Author de Miguel-Yanes,J.M., Shrader,P., Pencina,M.J., Fox,C.S., Manning,A.K., Grant,R.W., Dupuis,J., Florez,J.C., D'Agostino,R.B. Sr., Cupples,L.A. and Meigs,J.B.
Journal Diabetes Care 34 (1), 121-125 (2011)
Title Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion .
Author Heni,M., Ketterer,C., Thamer,C., Herzberg-Schafer,S.A., Guthoff,M., Stefan,N., Machicao,F., Staiger,H., Fritsche,A. and Haring,H.U.
Journal Diabetes 59 (12), 3247-3252 (2010)
Title Impact of single nucleotide polymorphisms and of clinical risk factors on new-onset diabetes mellitus in HIV-infected individuals .
Author Rotger,M., Gsponer,T., Martinez,R., Taffe,P., Elzi,L., Vernazza,P., Cavassini,M., Bernasconi,E., Hirschel,B., Furrer,H., Weber,R., Ledergerber,B., Egger,M., Telenti,A. and Tarr,P.E.
Journal Clin. Infect. Dis. 51 (9), 1090-1098 (2010)
Title Obesity and diabetes genetic variants associated with gestational weight gain .
Author Stuebe,A.M., Lyon,H., Herring,A.H., Ghosh,J., Wise,A., North,K.E. and Siega-Riz,A.M.
Journal Am. J. Obstet. Gynecol. 203 (3), 283 (2010)
Title A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus .
Author Van Camp,G., Kunst,H., Flothmann,K., McGuirt,W., Wauters,J., Marres,H., Verstreken,M., Bespalova,I.N., Burmeister,M., Van de Heyning,P.H., Smith,R.J., Willems,P.J., Cremers,C.W. and Lesperance,M.M.
Journal J. Med. Genet. 36 (7), 532-536 (1999)
Title Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein .
Author Strom,T.M., Hortnagel,K., Hofmann,S., Gekeler,F., Scharfe,C., Rabl,W., Gerbitz,K.D. and Meitinger,T.
Journal Hum. Mol. Genet. 7 (13), 2021-2028 (1998)
Title A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) .
Author 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. and Permutt,M.A.
Journal Nat. Genet. 20 (2), 143-148 (1998)
Title A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3 .
Author Lesperance,M.M., Hall,J.W. III, Bess,F.H., Fukushima,K., Jain,P.K., Ploplis,B., San Agustin,T.B., Skarka,H., Smith,R.J., Wills,M. et al.
Journal Hum. Mol. Genet. 4 (10), 1967-1972 (1995)
Title Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 .
Author Polymeropoulos,M.H., Swift,R.G. and Swift,M.
Journal Nat. Genet. 8 (1), 95-97 (1994)

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