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Homo sapiens recombination activating gene 1 (RAG1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000448 Homo sapiens recombination activating gene 1 (RAG1), mRNA. GenEZ ORF Cloning In-stock $1198.00 $1149.00 16

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RefSeq Version NM_000448.2, 172072669
Length 6582 bp
Structure linear
Update Date 13-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens recombination activating gene 1 (RAG1), mRNA.
Product V(D)J recombination-activating protein 1
Comment

Summary: The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_000439.1
CDS 125..3256
Misc Feature(1)53..55
Misc Feature(2)125..988
Misc Feature(3)125..988
Misc Feature(4)989..1123
Misc Feature(5)998..1129
Misc Feature(6)order(1001..1003,1010..1012,1046..1048,1052..1054,
Misc Feature(7)1184..1273
Misc Feature(8)1661..2983
Misc Feature(9)2810..2812
Exon (1)1..110
Gene:RAG1
Gene Synonym:RAG-1; RNF74
Exon (2)111..6582
Gene:RAG1
Gene Synonym:RAG-1; RNF74
Translation MAASFPPTLGLSSAPDEIQHPHIKFSEWKFKLFRVRSFEKTPEEAQKEKKDSFEGKPSLE QSPAVLDKADGQKPVPTQPLLKAHPKFSKKFHDNEKARGKAIHQANLRHLCRICGNSFRA DEHNRRYPVHGPVDGKTLGLLRKKEKRATSWPDLIAKVFRIDVKADVDSIHPTEFCHNCW SIMHRKFSSAPCEVYFPRNVTMEWHPHTPSCDICNTARRGLKRKSLQPNLQLSKKLKTVL DQARQARQRKRRAQARISSKDVMKKIANCSKIHLSTKLLAVDFPEHFVKSISCQICEHIL ADPVETNCKHVFCRVCILRCLKVMGSYCPSCRYPCFPTDLESPVKSFLSVLNSLMVKCPA KECNEEVSLEKYNHHISSHKESKEIFVHINKGGRPRQHLLSLTRRAQKHRLRELKLQVKA FADKEEGGDVKSVCMTLFLLALRARNEHRQADELEAIMQGKGSGLQPAVCLAIRVNTFLS CSQYHKMYRTVKAITGRQIFQPLHALRNAEKVLLPGYHHFEWQPPLKNVSSSTDVGIIDG LSGLSSSVDDYPVDTIAKRFRYDSALVSALMDMEEDILEGMRSQDLDDYLNGPFTVVVKE SCDGMGDVSEKHGSGPVVPEKAVRFSFTIMKITIAHSSQNVKVFEEAKPNSELCCKPLCL MLADESDHETLTAILSPLIAEREAMKSSELMLELGGILRTFKFIFRGTGYDEKLVREVEG LEASGSVYICTLCDATRLEASQNLVFHSITRSHAENLERYEVWRSNPYHESVEELRDRVK GVSAKPFIETVPSIDALHCDIGNAAEFYKIFQLEIGEVYKNPNASKEERKRWQATLDKHL RKKMNLKPIMRMNGNFARKLMTKETVDAVCELIPSEERHEALRELMDLYLKMKPVWRSSC PAKECPESLCQYSFNSQRFAELLSTKFKYRYEGKITNYFHKTLAHVPEIIERDGSIGAWA SEGNESGNKLFRRFRKMNARQSKCYEMEDVLKHHWLYTSKYLQKFMNAHNALKTSGFTMN PQASLGDPLGIEDSLESQDSMEF
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Position Chain Variation Link
11+dbSNP:
11+a, gdbSNP:872052
60+a, gdbSNP:872053
125+a, gdbSNP:200575481
180+a, gdbSNP:150201913
184+c, tdbSNP:138801620
218+c, gdbSNP:149364682
276+a, tdbSNP:147486240
310+g, tdbSNP:201625282
313+c, tdbSNP:34357808
318+c, tdbSNP:143654819
375+a, gdbSNP:150199231
406+c, tdbSNP:148700564
408+a, gdbSNP:142057334
419+a, gdbSNP:138676205
427+a, gdbSNP:4151025
443+c, gdbSNP:144019501
446+c, tdbSNP:193922464
458+c, tdbSNP:146457887
460..461+, cdbSNP:4151026
540+g, tdbSNP:140648865
556+g, tdbSNP:144430517
591+c, tdbSNP:1801203
630+c, tdbSNP:4151027
651+g, tdbSNP:149229197
701+c, tdbSNP:34841221
721+c, tdbSNP:148288583
742+a, cdbSNP:200182366
753+c, tdbSNP:147440161
754+a, c, tdbSNP:4151028
775+c, tdbSNP:141561979
777+a, gdbSNP:202178215
780+a, gdbSNP:147055289
786+a, tdbSNP:138419861
843+, tdbSNP:146046446
849+a, gdbSNP:76897604
854+a, gdbSNP:199474683
863+c, gdbSNP:147203889
864+a, gdbSNP:4151029
870+a, gdbSNP:3740955
875+a, gdbSNP:144616804
922+c, tdbSNP:141654332
923+a, gdbSNP:148393376
1003+c, tdbSNP:188125314
1030+a, cdbSNP:4151030
1041+c, tdbSNP:145962212
1064+c, tdbSNP:121918568
1080+c, gdbSNP:139883723
1091+a, gdbSNP:144391165
1098+a, gdbSNP:201462389
1107+a, gdbSNP:121918571
1109+c, tdbSNP:181967562
1172+a, gdbSNP:200758244
1188+c, tdbSNP:151077440
1215+a, gdbSNP:186342720
1278+c, tdbSNP:141049427
1310+c, tdbSNP:104894289
1311+a, g, tdbSNP:104894291
1325+c, tdbSNP:199474682
1331+a, tdbSNP:202189218
1353+a, gdbSNP:199474684
1410+a, gdbSNP:104894292
1421+a, gdbSNP:199474679
1423+c, gdbSNP:145877904
1427+a, gdbSNP:141524540
1455+c, tdbSNP:199474685
1470+a, gdbSNP:4151031
1485+a, tdbSNP:199474677
1491+a, cdbSNP:201779957
1495+c, tdbSNP:138387845
1503+c, gdbSNP:191898756
1524+c, tdbSNP:142486791
1544+c, tdbSNP:199474678
1545+a, gdbSNP:199474686
1583+a, gdbSNP:112047157
1643+c, tdbSNP:104894298
1644+a, gdbSNP:143969029
1684+g, tdbSNP:61758790
1690+g, tdbSNP:193922461
1697+c, tdbSNP:4151032
1702+a, gdbSNP:143289774
1753+a, gdbSNP:17853743
1761+c, tdbSNP:148235228
1789+c, tdbSNP:141265699
1798+c, gdbSNP:150790148
1801+g, tdbSNP:199474681
1805+c, tdbSNP:104894285
1806+a, gdbSNP:104894284
1829+g, tdbSNP:138101978
1851+a, tdbSNP:142333735
1925+a, tdbSNP:145951370
1945+c, tdbSNP:183806098
1988+a, gdbSNP:148380512
1994+c, tdbSNP:199474688
1995+a, gdbSNP:199474680
2041+a, gdbSNP:144475142
2130+a, gdbSNP:199474689
2133+c, tdbSNP:139863630
2159+a, gdbSNP:143227621
2212+c, gdbSNP:144503943
2219+c, tdbSNP:199474676
2270+c, tdbSNP:199776076
2288+a, gdbSNP:28933392
2305+c, gdbSNP:148763154
2309+a, cdbSNP:201192233
2334+a, gdbSNP:104894286
2382+a, tdbSNP:199474687
2437+c, tdbSNP:142419805
2444+g, tdbSNP:104894282
2450+c, tdbSNP:121918572
2457+a, gdbSNP:121918569
2469+a, tdbSNP:200300629
2528+a, gdbSNP:151322536
2552+a, gdbSNP:61752933
2575+a, gdbSNP:61758791
2583+a, gdbSNP:2227973
2592+a, cdbSNP:147656090
2645+c, tdbSNP:104894287
2651+a, gdbSNP:186717025
2676+a, gdbSNP:142345523
2688+a, tdbSNP:199474690
2695+c, tdbSNP:141560248
2727+c, tdbSNP:193922462
2729+a, gdbSNP:201313833
2749+c, gdbSNP:200264827
2750+a, gdbSNP:145772007
2762+a, gdbSNP:4151033
2778+g, tdbSNP:199474691
2783+a, gdbSNP:4151034
2839+c, tdbSNP:138119069
2859+a, gdbSNP:104894290
2875+a, gdbSNP:150721661
2898+c, tdbSNP:144893101
2916+a, cdbSNP:75591129
2932+a, cdbSNP:199921936
2938+g, tdbSNP:104894283
2991+c, tdbSNP:182385524
2998+a, gdbSNP:138510915
3004+a, gdbSNP:1980131
3028+a, cdbSNP:193922463
3047+c, tdbSNP:121918570
3048+a, gdbSNP:150739647
3066+a, cdbSNP:104894288
3079+c, tdbSNP:139084848
3140+a, gdbSNP:139113046
3150+a, gdbSNP:200043512
3279+a, gdbSNP:189589191
3494+a, gdbSNP:4151035
3529+g, tdbSNP:144069419
3593..3594+, cacdbSNP:141129968
3654+a, gdbSNP:4151036
3676+c, tdbSNP:4151037
3696+a, gdbSNP:115582302
3838..3839+, cdbSNP:35276810
3845+a, gdbSNP:4151038
3995+c, tdbSNP:4151039
4339+c, tdbSNP:4151040
4356+c, tdbSNP:112766186
4357+a, gdbSNP:145963034
4360+a, gdbSNP:4151041
4422+a, cdbSNP:139938937
4434+a, gdbSNP:149724031
4531+a, gdbSNP:113060327
4706+a, gdbSNP:187884172
4750+a, cdbSNP:4151042
4818+a, gdbSNP:185464049
5017+a, gdbSNP:145552187
5189+c, gdbSNP:4151043
5234+c, tdbSNP:4151044
5266+a, tdbSNP:188175007
5321+, tdbSNP:35353578
5421+c, tdbSNP:148483119
5502+c, tdbSNP:4151045
5545+c, tdbSNP:200013770
5585+g, tdbSNP:4151046
5786+g, tdbSNP:4151047
5797+a, gdbSNP:192931118
5954..5955+, tdbSNP:4151048
6070+c, tdbSNP:184027330
6073+c, tdbSNP:188367509
6192..6195+, taagdbSNP:199555129
6276+g, tdbSNP:180966342
6286..6287+, tadbSNP:143299264
6367+, tdbSNP:141384582
6412+a, gdbSNP:183729240
6440+c, tdbSNP:1056403
6472+a, gdbSNP:190801060
6563+, adbSNP:4151049
Gene SymbolRAG1
Gene SynonymRAG-1; RNF74
Chromosome11
Locus Map11p13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000448 Homo sapiens recombination activating gene 1 (RAG1), mRNA. In-stock $1198.00 $1149.00 16
Title Novel RAG1 mutation in a case of severe combined immunodeficiency .
Author Zhang,J., Quintal,L., Atkinson,A., Williams,B., Grunebaum,E. and Roifman,C.M.
Journal Pediatrics 116 (3), E445-E449 (2005)
Title The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins .
Author Noordzij,J.G., de Bruin-Versteeg,S., Verkaik,N.S., Vossen,J.M., de Groot,R., Bernatowska,E., Langerak,A.W., van Gent,D.C. and van Dongen,J.J.
Journal Blood 100 (6), 2145-2152 (2002)
Title Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome .
Author Corneo,B., Moshous,D., Gungor,T., Wulffraat,N., Philippet,P., Le Deist,F.L., Fischer,A. and de Villartay,J.P.
Journal Blood 97 (9), 2772-2776 (2001)
Title V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations .
Author Villa,A., Sobacchi,C., Notarangelo,L.D., Bozzi,F., Abinun,M., Abrahamsen,T.G., Arkwright,P.D., Baniyash,M., Brooks,E.G., Conley,M.E., Cortes,P., Duse,M., Fasth,A., Filipovich,A.M., Infante,A.J., Jones,A., Mazzolari,E., Muller,S.M., Pasic,S., Rechavi,G., Sacco,M.G., Santagata,S., Schroeder,M.L., Seger,R., Strina,D., Ugazio,A., Valiaho,J., Vihinen,M., Vogler,L.B., Ochs,H., Vezzoni,P., Friedrich,W. and Schwarz,K.
Journal Blood 97 (1), 81-88 (2001)
Title N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains .
Author Santagata,S., Gomez,C.A., Sobacchi,C., Bozzi,F., Abinun,M., Pasic,S., Cortes,P., Vezzoni,P. and Villa,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 97 (26), 14572-14577 (2000)
Title Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders .
Author Wada,T., Takei,K., Kudo,M., Shimura,S., Kasahara,Y., Koizumi,S., Kawa-Ha,K., Ishida,Y., Imashuku,S., Seki,H. and Yachie,A.
Journal Clin. Exp. Immunol. 119 (1), 148-155 (2000)
Title Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency .
Author Kumaki,S., Ishii,N., Minegishi,M., Tsuchiya,S., Cosman,D., Sugamura,K. and Konno,T.
Journal Blood 93 (2), 607-612 (1999)
Title Partial V(D)J recombination activity leads to Omenn syndrome .
Author Villa,A., Santagata,S., Bozzi,F., Giliani,S., Frattini,A., Imberti,L., Gatta,L.B., Ochs,H.D., Schwarz,K., Notarangelo,L.D., Vezzoni,P. and Spanopoulou,E.
Journal Cell 93 (5), 885-896 (1998)
Title In vitro cell death of activated lymphocytes in Omenn's syndrome .
Author Brugnoni,D., Airo,P., Facchetti,F., Blanzuoli,L., Ugazio,A.G., Cattaneo,R. and Notarangelo,L.D.
Journal Eur. J. Immunol. 27 (11), 2765-2773 (1997)
Title RAG mutations in human B cell-negative SCID .
Author Schwarz,K., Gauss,G.H., Ludwig,L., Pannicke,U., Li,Z., Lindner,D., Friedrich,W., Seger,R.A., Hansen-Hagge,T.E., Desiderio,S., Lieber,M.R. and Bartram,C.R.
Journal Science 274 (5284), 97-99 (1996)


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