• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006005 Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15

*Business Day

Related Services

RefSeq Version NM_006005.3, 224994202
Length 3640 bp
Structure linear
Update Date 17-APR-2013
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, Mar 2009].


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

RefSeq NP_005996.2
CDS 171..2843
Misc Feature(1)1110..1172
Misc Feature(2)1110..1172
Misc Feature(3)1188..1250
Misc Feature(4)1374..1436
Misc Feature(5)1449..1511
Misc Feature(6)1563..1625
Misc Feature(7)1656..1718
Misc Feature(8)1755..1817
Misc Feature(9)1857..1919
Misc Feature(10)1935..1997
Misc Feature(11)2064..2126
Misc Feature(12)2778..2840
Exon (1)1..165
Gene:WFS1
Gene Synonym:WFRS; WFS; WFSL
Exon (2)166..402
Gene:WFS1
Gene Synonym:WFRS; WFS; WFSL
Exon (3)403..485
Gene:WFS1
Gene Synonym:WFRS; WFS; WFSL
Exon (4)486..630
Gene:WFS1
Gene Synonym:WFRS; WFS; WFSL
Exon (5)631..801
Gene:WFS1
Gene Synonym:WFRS; WFS; WFSL
Exon (6)802..882
Gene:WFS1
Gene Synonym:WFRS; WFS; WFSL
Exon (7)883..1031
Gene:WFS1
Gene Synonym:WFRS; WFS; WFSL
Exon (8)1032..3640
Gene:WFS1
Gene Synonym:WFRS; WFS; WFSL
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+dbSNP:
47+g, tdbSNP:72616117
51+c, tdbSNP:71584490
86+c, gdbSNP:71524390
179+c, g, tdbSNP:71524363
190+c, tdbSNP:138165486
211+a, gdbSNP:142651446
217+a, gdbSNP:34653805
241+a, gdbSNP:71524364
255+c, gdbSNP:71530922
266+a, gdbSNP:71539660
288+a, gdbSNP:202063937
294+c, tdbSNP:71530923
324+a, cdbSNP:111773340
338+c, tdbSNP:112598170
346+c, tdbSNP:71524365
365+c, tdbSNP:71530924
395+a, gdbSNP:35216268
397+g, tdbSNP:200135768
441+dbSNP:
441+a, gdbSNP:149697409
445+c, tdbSNP:144475151
461+c, tdbSNP:148404077
490+dbSNP:
490+a, gdbSNP:71530914
495+c, tdbSNP:112871383
512+c, tdbSNP:201151892
515+c, tdbSNP:200385504
520+c, tdbSNP:141225426
521+a, gdbSNP:200831572
523+a, cdbSNP:71524349
533+c, tdbSNP:140229545
546+a, gdbSNP:145639028
552+g, tdbSNP:71524350
570+a, gdbSNP:147724970
572+a, gdbSNP:199533137
607+a, cdbSNP:34446752
619+c, tdbSNP:113651985
631+dbSNP:
631+c, gdbSNP:71530927
638+g, tdbSNP:201145164
641+c, tdbSNP:71524347
652+a, gdbSNP:115346085
674+c, tdbSNP:71537675
675+a, gdbSNP:148953711
680+c, g, tdbSNP:151277039
747+a, cdbSNP:41264699
763+c, tdbSNP:142687752
778+a, gdbSNP:71537676
782+c, tdbSNP:71537677
800+c, tdbSNP:144851092
801+a, gdbSNP:138682654
813+dbSNP:
813+c, tdbSNP:71530928
817+c, gdbSNP:141233896
846+c, tdbSNP:104893880
853+a, gdbSNP:150771247
854+c, g, tdbSNP:1801213
861+a, gdbSNP:199620178
863+a, gdbSNP:149479911
894+dbSNP:
894+a, gdbSNP:71524380
896+c, tdbSNP:71524381
898+c, tdbSNP:147147660
932+c, tdbSNP:140266808
969+a, gdbSNP:145677667
971+c, tdbSNP:147734431
974+c, tdbSNP:199741678
975+a, gdbSNP:148771011
987+a, gdbSNP:142428158
1012+a, cdbSNP:200841930
1024+a, gdbSNP:61735404
1032+dbSNP:
1032+a, gdbSNP:71537685
1087+c, tdbSNP:146114074
1100+a, gdbSNP:115561278
1136+c, tdbSNP:140196582
1145+c, tdbSNP:141177727
1146+g, tdbSNP:200790641
1149+a, cdbSNP:71537678
1155+a, tdbSNP:188848517
1161+a, tdbSNP:144888979
1166+a, cdbSNP:138674328
1167+a, gdbSNP:1801212
1193+c, tdbSNP:56072215
1194+a, gdbSNP:148028521
1208+a, gdbSNP:143886476
1222+a, gdbSNP:181988441
1228+c, gdbSNP:143547567
1249+a, gdbSNP:147157374
1256+c, gdbSNP:140306207
1293+c, tdbSNP:200095753
1294+a, gdbSNP:142671083
1304+a, c, gdbSNP:71530904
1313+a, gdbSNP:151153967
1322+c, tdbSNP:149846741
1323+a, gdbSNP:71524353
1328+c, tdbSNP:71524354
1337+g, tdbSNP:201282601
1341+a, gdbSNP:144308365
1343+a, gdbSNP:202104460
1351+a, tdbSNP:146563951
1355+c, g, tdbSNP:1801206
1358+c, tdbSNP:71524355
1361+c, tdbSNP:201394228
1364+a, cdbSNP:143633587
1382+c, tdbSNP:140091627
1389+c, tdbSNP:151244358
1390+a, gdbSNP:140407862
1398+c, tdbSNP:184573849
1404+c, gdbSNP:149865710
1405+c, tdbSNP:144951440
1407+g, tdbSNP:71524356
1420+c, tdbSNP:111570388
1435+c, tdbSNP:150368988
1438+a, gdbSNP:142027835
1443+a, gdbSNP:138042354
1447+c, tdbSNP:35218685
1457+c, tdbSNP:1801207
1464+a, c, gdbSNP:35031397
1467+a, gdbSNP:138771366
1472+c, tdbSNP:142745931
1478+c, tdbSNP:71539646
1479+a, g, tdbSNP:147974629
1486+g, tdbSNP:141585847
1491+a, gdbSNP:150894674
1534+c, tdbSNP:139361521
1536+c, tdbSNP:144452795
1537+a, c, g, tdbSNP:1801208
1541+g, tdbSNP:113446173
1545+c, tdbSNP:1801209
1547+a, gdbSNP:143672793
1549+c, tdbSNP:145720947
1552+c, gdbSNP:71530925
1561+c, gdbSNP:148919878
1563+a, gdbSNP:71524357
1565+c, tdbSNP:71530905
1569+c, tdbSNP:142700542
1572+c, tdbSNP:200318101
1577+g, tdbSNP:201692206
1589+c, tdbSNP:150997327
1607+c, tdbSNP:141472336
1630+c, tdbSNP:142269405
1640+c, tdbSNP:146027767
1641+a, gdbSNP:143597170
1648+c, tdbSNP:138810692
1659+c, gdbSNP:141254874
1661+c, tdbSNP:148310584
1662+a, gdbSNP:71524358
1665+c, tdbSNP:114152068
1670+a, c, g, tdbSNP:1801214
1681+c, tdbSNP:28937892
1682+a, gdbSNP:201684148
1688+a, gdbSNP:199770655
1700+a, gdbSNP:35789242
1706+c, gdbSNP:199728640
1708+a, cdbSNP:138499690
1720+a, gdbSNP:150394063
1724+a, gdbSNP:138232538
1726+c, tdbSNP:201557396
1767+c, tdbSNP:146132083
1780+a, gdbSNP:199910987
1802+c, tdbSNP:140115060
1803+a, gdbSNP:201993978
1814+c, gdbSNP:71539648
1815+c, tdbSNP:1801211
1826+c, tdbSNP:141477172
1827+a, gdbSNP:150840308
1842+c, tdbSNP:199946797
1844+c, tdbSNP:61735402
1845+a, gdbSNP:55814513
1853+c, tdbSNP:71530906
1862+c, gdbSNP:140643985
1863+c, gdbSNP:200058166
1876+c, tdbSNP:144492050
1883+c, gdbSNP:71524359
1894+c, gdbSNP:71524360
1895+c, tdbSNP:2230719
1896+a, gdbSNP:1805069
1898+a, cdbSNP:143500912
1907+a, gdbSNP:150970403
1909+a, tdbSNP:140773453
1922+a, c, gdbSNP:76577786
1925+c, tdbSNP:1801210
1926+a, g, tdbSNP:143084511
1928+c, tdbSNP:145144527
1929+c, tdbSNP:138968466
1930+a, gdbSNP:71539657
1931+c, gdbSNP:35568345
1940+a, gdbSNP:71532858
1949+c, gdbSNP:144783536
1951+g, tdbSNP:200288171
1954+c, tdbSNP:148544389
1961+c, tdbSNP:141883293
1962+a, gdbSNP:140125843
1967+a, c, tdbSNP:71524361
1970+a, c, tdbSNP:71524362
1971+a, g, tdbSNP:147838635
1975+a, c, g, tdbSNP:2230720
1976+a, gdbSNP:142295878
1977+a, gdbSNP:199529419
1995+c, tdbSNP:71532859
2001+c, tdbSNP:144993516
2002+a, gdbSNP:734312
2009+a, gdbSNP:143064649
2054+g, tdbSNP:71532860
2055+c, tdbSNP:71530910
2056+a, gdbSNP:146670741
2070+a, cdbSNP:140213376
2071+a, cdbSNP:104893882
2081+g, tdbSNP:145163802
2093+a, gdbSNP:139040290
2100+g, tdbSNP:141570700
2101..2108+, tgctgttcdbSNP:71526457
2106..2113+, ttctgctgdbSNP:71524374
2113+g, tdbSNP:150465110
2114+a, gdbSNP:104893879
2127+c, tdbSNP:201064551
2128+a, gdbSNP:199697430
2139+a, gdbSNP:71532861
2164+a, c, tdbSNP:138258392
2182+c, tdbSNP:71530907
2183+a, gdbSNP:147262416
2189+c, tdbSNP:71524375
2190+a, gdbSNP:200672755
2196+c, tdbSNP:201623184
2197+c, gdbSNP:143055296
2198+c, tdbSNP:201878061
2209+a, cdbSNP:144840779
2217+a, gdbSNP:71524376
2222+a, gdbSNP:71539668
2223+c, tdbSNP:112967046
2224+a, gdbSNP:142668478
2254+g, tdbSNP:28937891
2255+c, tdbSNP:150568382
2264+a, cdbSNP:142518664
2266+c, tdbSNP:28937894
2273+c, g, tdbSNP:113800346
2274+a, gdbSNP:71532862
2277+c, tdbSNP:201888856
2289+a, gdbSNP:71524377
2292+c, tdbSNP:200099217
2294+c, tdbSNP:61735401
2299+c, gdbSNP:200136995
2308+a, gdbSNP:143280847
2316+a, gdbSNP:28937893
2319+a, gdbSNP:71532863
2328+a, gdbSNP:1805070
2341+c, tdbSNP:28937890
2351+c, tdbSNP:140286718
2352+a, gdbSNP:202195756
2354+c, tdbSNP:71530908
2361+a, cdbSNP:144010362
2362+c, tdbSNP:146418094
2364+c, tdbSNP:71526458
2365+a, gdbSNP:149013740
2372+c, tdbSNP:140427062
2375+c, tdbSNP:71530911
2376+a, gdbSNP:71532864
2377+a, gdbSNP:71530912
2378+c, tdbSNP:141020933
2379+a, gdbSNP:147834269
2394+c, tdbSNP:71532865
2396+c, gdbSNP:71532866
2403+a, gdbSNP:139185707
2416+c, gdbSNP:199769524
2417+a, gdbSNP:75096624
2418+a, gdbSNP:201335980
2421+c, gdbSNP:147465252
2424+g, tdbSNP:201239579
2436+c, tdbSNP:138127684
2452+c, tdbSNP:71526459
2456+a, gdbSNP:200663929
2471+c, tdbSNP:187044493
2480+a, gdbSNP:34384569
2484+c, tdbSNP:149540655
2486+c, tdbSNP:71532867
2491+a, cdbSNP:201127866
2492+a, gdbSNP:2230721
2497+a, tdbSNP:56002719
2504+c, tdbSNP:71526460
2505+a, gdbSNP:141328044
2517+c, tdbSNP:71526461
2524+g, tdbSNP:202082612
2525+c, tdbSNP:201731358
2526+a, gdbSNP:71578980
2528+c, tdbSNP:139236812
2534+c, tdbSNP:144030395
2540+a, gdbSNP:150936382
2541+c, tdbSNP:200528166
2547+cgc, gagdbSNP:71526463
2547+c, tdbSNP:71526462
2550+a, gdbSNP:201078003
2558+c, tdbSNP:71532868
2568+a, gdbSNP:55674815
2576+c, tdbSNP:201102144
2584+a, gdbSNP:140667597
2594+c, tdbSNP:56035336
2595+a, gdbSNP:71539673
2603+a, gdbSNP:1046314
2606+c, tdbSNP:142630687
2622+a, gdbSNP:35932623
2624+c, tdbSNP:139223980
2625+c, tdbSNP:104893881
2635..2637+, tcadbSNP:71528899
2636+a, cdbSNP:141669724
2639+a, c, tdbSNP:1801215
2656+c, tdbSNP:104893883
2662+a, gdbSNP:28937895
2664+c, tdbSNP:148089728
2665+a, gdbSNP:141816346
2690+c, tdbSNP:150192080
2694+c, tdbSNP:71530915
2701+c, tdbSNP:200192011
2705+c, tdbSNP:138669400
2733+c, tdbSNP:141833472
2735+a, c, g, tdbSNP:1046316
2746+a, gdbSNP:121912618
2759+c, g, tdbSNP:71524393
2760+a, gdbSNP:74315205
2765+c, tdbSNP:142469572
2766+a, gdbSNP:3821945
2772+c, tdbSNP:148611943
2773+a, gdbSNP:56393026
2781+a, gdbSNP:71532874
2790+a, gdbSNP:200775335
2791+c, gdbSNP:201776585
2792+c, tdbSNP:141052196
2797+a, cdbSNP:144900514
2810+c, tdbSNP:200258084
2819+, cdbSNP:71524394
2828+c, tdbSNP:55973732
2836+c, tdbSNP:147934586
2837+a, gdbSNP:71526454
2852+c, gdbSNP:71537669
2890+c, tdbSNP:1046317
2897+a, gdbSNP:71526455
2912+c, tdbSNP:71530916
2913+a, gdbSNP:56192009
2923+c, tdbSNP:183014938
2933+a, gdbSNP:1802453
2934+c, tdbSNP:1046319
2940+, cdbSNP:71530917
2974+c, g, tdbSNP:55993016
2977+, 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:182351379
3176+a, cdbSNP:111800114
3199..3202+, tcttdbSNP:71537670
3201+c, tdbSNP:71530919
3209..3212+, ttttdbSNP:71537671
3237+a, cdbSNP:191825915
3273+, atdbSNP:71741747
3291+a, tdbSNP:113513950
3294+c, tdbSNP:71537672
3311+c, tdbSNP:142894380
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
3526+a, g, tdbSNP:3200
3564..3567+, ctgadbSNP:71537674
Gene SymbolWFS1
Gene SynonymWFRS; WFS; WFSL
Chromosome4
Locus Map4p16.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001145853 Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. In-stock $809.00 $760.00 15
NM_006005 Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 1, mRNA. In-stock $809.00 $760.00 15
Title Evaluation of genome-wide association study-identified type 2 diabetes loci in African Americans .
Author Long,J., Edwards,T., Signorello,L.B., Cai,Q., Zheng,W., Shu,X.O. and Blot,W.J.
Journal Am. J. Epidemiol. 176 (11), 995-1001 (2012)
Title Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion .
Author Fonseca,S.G., Urano,F., Weir,G.C., Gromada,J. and Burcin,M.
Journal Nat. Cell Biol. 14 (10), 1105-1112 (2012)
Title Comorbidity of GJB2 and WFS1 mutations in one family .
Author Minami,S.B., Masuda,S., Usui,S., Mutai,H. and Matsunaga,T.
Journal Gene 501 (2), 193-197 (2012)
Title A predictive model of the association between gene polymorphism and the risk of noise-induced hearing loss caused by gunfire noise .
Author Yuan,B.C., Su,F.M., Wu,W.T., Liu,W.S. and Chiu,K.H.
Journal J Chin Med Assoc 75 (1), 36-39 (2012)
Title Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro) .
Author Yuca,S.A., Rendtorff,N.D., Boulahbel,H., Lodahl,M., Tranebjaerg,L., Cesur,Y., Dogan,M., Yilmaz,C., Akgun,C. and Acikgoz,M.
Journal Eur J Med Genet 55 (1), 37-42 (2012)
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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