• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.


RefSeq Accession Definition Services Price Order
NM_174916 Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. ORF Sequence $2362.50
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_174916.2, 83656781
Length 7758 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.
Product E3 ubiquitin-protein ligase UBR1
Comment

Summary: The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008].

RefSeq NP_777576.1
CDS 67..5316
Misc Feature(1)70..72
Misc Feature(2)70..72
Misc Feature(3)127..129
Misc Feature(4)355..567
Misc Feature(5)724..972
Misc Feature(6)3601..3603
Misc Feature(7)3601..3603
Exon (1)1..147
Gene:UBR1
Gene Synonym:JBS
Exon (2)148..404
Gene:UBR1
Gene Synonym:JBS
Exon (3)405..483
Gene:UBR1
Gene Synonym:JBS
Exon (4)484..594
Gene:UBR1
Gene Synonym:JBS
Exon (5)595..725
Gene:UBR1
Gene Synonym:JBS
Exon (6)726..864
Gene:UBR1
Gene Synonym:JBS
Exon (7)865..927
Gene:UBR1
Gene Synonym:JBS
Exon (8)928..1051
Gene:UBR1
Gene Synonym:JBS
Exon (9)1052..1159
Gene:UBR1
Gene Synonym:JBS
Exon (10)1160..1248
Gene:UBR1
Gene Synonym:JBS
Exon (11)1249..1347
Gene:UBR1
Gene Synonym:JBS
Exon (12)1348..1505
Gene:UBR1
Gene Synonym:JBS
Exon (13)1506..1605
Gene:UBR1
Gene Synonym:JBS
Exon (14)1606..1734
Gene:UBR1
Gene Synonym:JBS
Exon (15)1735..1915
Gene:UBR1
Gene Synonym:JBS
Exon (16)1916..1977
Gene:UBR1
Gene Synonym:JBS
Exon (17)1978..2088
Gene:UBR1
Gene Synonym:JBS
Exon (18)2089..2154
Gene:UBR1
Gene Synonym:JBS
Exon (19)2155..2256
Gene:UBR1
Gene Synonym:JBS
Exon (20)2257..2320
Gene:UBR1
Gene Synonym:JBS
Exon (21)2321..2445
Gene:UBR1
Gene Synonym:JBS
Exon (22)2446..2498
Gene:UBR1
Gene Synonym:JBS
Exon (23)2499..2601
Gene:UBR1
Gene Synonym:JBS
Exon (24)2602..2650
Gene:UBR1
Gene Synonym:JBS
Exon (25)2651..2805
Gene:UBR1
Gene Synonym:JBS
Exon (26)2806..2905
Gene:UBR1
Gene Synonym:JBS
Exon (27)2906..3006
Gene:UBR1
Gene Synonym:JBS
Exon (28)3007..3093
Gene:UBR1
Gene Synonym:JBS
Exon (29)3094..3275
Gene:UBR1
Gene Synonym:JBS
Exon (30)3276..3481
Gene:UBR1
Gene Synonym:JBS
Exon (31)3482..3575
Gene:UBR1
Gene Synonym:JBS
Exon (32)3576..3725
Gene:UBR1
Gene Synonym:JBS
Exon (33)3726..3823
Gene:UBR1
Gene Synonym:JBS
Exon (34)3824..3914
Gene:UBR1
Gene Synonym:JBS
Exon (35)3915..4063
Gene:UBR1
Gene Synonym:JBS
Exon (36)4064..4119
Gene:UBR1
Gene Synonym:JBS
Exon (37)4120..4216
Gene:UBR1
Gene Synonym:JBS
Exon (38)4217..4284
Gene:UBR1
Gene Synonym:JBS
Exon (39)4285..4435
Gene:UBR1
Gene Synonym:JBS
Exon (40)4436..4523
Gene:UBR1
Gene Synonym:JBS
Exon (41)4524..4657
Gene:UBR1
Gene Synonym:JBS
Exon (42)4658..4766
Gene:UBR1
Gene Synonym:JBS
Exon (43)4767..4823
Gene:UBR1
Gene Synonym:JBS
Exon (44)4824..4901
Gene:UBR1
Gene Synonym:JBS
Exon (45)4902..5072
Gene:UBR1
Gene Synonym:JBS
Exon (46)5073..5174
Gene:UBR1
Gene Synonym:JBS
Exon (47)5175..7748
Gene:UBR1
Gene Synonym:JBS
Translation MADEEAGGTERMEISAELPQTPQRLASWWDQQVDFYTAFLHHLAQLVPEIYFAEMDPDLE KQEESVQMSIFTPLEWYLFGEDPDICLEKLKHSGAFQLCGRVFKSGETTYSCRDCAIDPT CVLCMDCFQDSVHKNHRYKMHTSTGGGFCDCGDTEAWKTGPFCVNHEPGRAGTIKENSRC PLNEEVIVQARKIFPSVIKYVVEMTIWEEEKELPPELQIREKNERYYCVLFNDEHHSYDH VIYSLQRALDCELAEAQLHTTAIDKEGRRAVKAGAYAACQEAKEDIKSHSENVSQHPLHV EVLHSEIMAHQKFALRLGSWMNKIMSYSSDFRQIFCQACLREEPDSENPCLISRLMLWDA KLYKGARKILHELIFSSFFMEMEYKKLFAMEFVKYYKQLQKEYISDDHDRSISITALSVQ MFTVPTLARHLIEEQNVISVITETLLEVLPEYLDRNNKFNFQGYSQDKLGRVYAVICDLK YILISKPTIWTERLRMQFLEGFRSFLKILTCMQGMEEIRRQVGQHIEVDPDWEAAIAIQM QLKNILLMFQEWCACDEELLLVAYKECHKAVMRCSTSFISSSKTVVQSCGHSLETKSYRV SEDLVSIHLPLSRTLAGLHVRLSRLGAVSRLHEFVSFEDFQVEVLVEYPLRCLVLVAQVV AEMWRRNGLSLISQVFYYQDVKCREEMYDKDIIMLQIGASLMDPNKFLLLVLQRYELAEA FNKTISTKDQDLIKQYNTLIEEMLQVLIYIVGERYVPGVGNVTKEEVTMREIIHLLCIEP MPHSAIAKNLPENENNETGLENVINKVATFKKPGVSGHGVYELKDESLKDFNMYFYHYSK TQHSKAEHMQKKRRKQENKDEALPPPPPPEFCPAFSKVINLLNCDIMMYILRTVFERAID TDSNLWTEGMLQMAFHILALGLLEEKQQLQKAPEEEVTFDFYHKASRLGSSAMNIQMLLE KLKGIPQLEGQKDMITWILQMFDTVKRLREKSCLIVATTSGSESIKNDEITHDKEKAERK RKAEAARLHRQKIMAQMSALQKNFIETHKLMYDNTSEMPGKEDSIMEEESTPAVSDYSRI ALGPKRGPSVTEKEVLTCILCQEEQEVKIENNAMVLSACVQKSTALTQHRGKPIELSGEA LDPLFMDPDLAYGTYTGSCGHVMHAVCWQKYFEAVQLSSQQRIHVDLFDLESGEYLCPLC KSLCNTVIPIIPLQPQKINSENADALAQLLTLARWIQTVLARISGYNIRHAKGENPIPIF FNQGMGDSTLEFHSILSFGVESSIKYSNSIKEMVILFATTIYRIGLKVPPDERDPRVPML TWSTCAFTIQAIENLLGDEGKPLFGALQNRQHNGLKALMQFAVAQRITCPQVLIQKHLVR LLSVVLPNIKSEDTPCLLSIDLFHVLVGAVLAFPSLYWDDPVDLQPSSVSSSYNHLYLFH LITMAHMLQILLTVDTGLPLAQVQEDSEEAHSASSFFAEISQYTSGSIGCDIPGWYLWVS LKNGITPYLRCAALFFHYLLGVTPPEELHTNSAEGEYSALCSYLSLPTNLFLLFQEYWDT VRPLLQRWCADPALLNCLKQKNTVVRYPRKRNSLIELPDDYSCLLNQASHFRCPRSADDE RKHPVLCLFCGAILCSQNICCQEIVNGEEVGACIFHALHCGAGVCIFLKIRECRVVLVEG KARGCAYPAPYLDEYGETDPGLKRGNPLHLSRERYRKLHLVWQQHCIIEEIARSQETNQM LFGFNWQLL
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Position Chain Variation Link
complement(86)-c, adbSNP:141411839
complement(111)-g, adbSNP:201825283
complement(113)-g, adbSNP:76172507
complement(124)-g, cdbSNP:150176535
complement(281)-dbSNP:
complement(281)-g, adbSNP:140686087
complement(309)-t, cdbSNP:79304860
complement(330)-t, cdbSNP:142558660
complement(368)-t, cdbSNP:202158437
complement(415)-dbSNP:
complement(415)-t, cdbSNP:140294470
complement(471)-g, adbSNP:146593239
complement(473)-g, adbSNP:119477054
complement(476)-t, cdbSNP:201509699
complement(499)-dbSNP:
complement(499)-c, adbSNP:59574876
complement(556)-t, cdbSNP:144415580
complement(600)-dbSNP:
complement(600)-t, cdbSNP:201083590
complement(601)-g, adbSNP:139723559
complement(608)-g, adbSNP:145854171
complement(609)-t, cdbSNP:192703766
complement(654)-t, gdbSNP:200217429
complement(665)-t, adbSNP:149864087
complement(670)-t, cdbSNP:190360605
complement(709)-t, gdbSNP:62020750
complement(720)-c, adbSNP:139686505
complement(786)-dbSNP:
complement(786)-g, adbSNP:200504974
complement(818)-c, adbSNP:150617078
complement(832)-c, adbSNP:201386354
complement(869)-dbSNP:
complement(869)-t, cdbSNP:143887505
complement(872)-t, cdbSNP:200054312
complement(884)-g, adbSNP:191658926
complement(926)-t, cdbSNP:140000186
complement(973)-dbSNP:
complement(973)-g, adbSNP:182908361
complement(1013)-t, cdbSNP:147396426
complement(1103)-dbSNP:
complement(1103)-g, adbSNP:201544896
complement(1104)-t, cdbSNP:201919661
complement(1131)-t, gdbSNP:142798632
complement(1231)-dbSNP:
complement(1231)-c, adbSNP:200801495
complement(1233)-t, adbSNP:148254554
complement(1260)-dbSNP:
complement(1260)-t, cdbSNP:143184602
complement(1279)-t, cdbSNP:77360687
complement(1284)-g, adbSNP:137864901
complement(1352)-dbSNP:
complement(1352)-t, cdbSNP:145247056
complement(1386)-g, adbSNP:189354366
complement(1399)-g, adbSNP:183586823
complement(1443)-g, adbSNP:140270026
complement(1471)-g, adbSNP:146690613
complement(1500)-g, adbSNP:144700609
complement(1603)-dbSNP:
complement(1603)-t, cdbSNP:119477055
complement(1795)-dbSNP:
complement(1795)-t, cdbSNP:140662099
complement(1827)-t, cdbSNP:151310227
complement(1830)-t, cdbSNP:142435050
complement(1850)-g, adbSNP:148797320
complement(1853)-t, adbSNP:34568456
complement(1977)-dbSNP:
complement(1977)-t, adbSNP:200515587
complement(2070)-dbSNP:
complement(2070)-t, cdbSNP:199612804
complement(2167)-dbSNP:
complement(2167)-g, adbSNP:147859390
complement(2180)-t, cdbSNP:145364227
complement(2190)-t, cdbSNP:139911360
complement(2219)-g, adbSNP:144190668
complement(2245)-t, cdbSNP:147478213
complement(2302)-dbSNP:
complement(2302)-t, cdbSNP:200810218
complement(2304)-g, adbSNP:143160017
complement(2331)-dbSNP:
complement(2331)-g, adbSNP:139564942
complement(2334)-t, cdbSNP:201430048
complement(2347)-t, gdbSNP:111232529
complement(2368)-t, gdbSNP:200146543
complement(2443)-t, gdbSNP:150565243
complement(2469)-dbSNP:
complement(2469)-g, cdbSNP:141762554
complement(2553)-dbSNP:
complement(2553)-t, cdbSNP:112947825
complement(2642)-dbSNP:
complement(2642)-t, gdbSNP:111240413
complement(2658)-dbSNP:
complement(2658)-t, cdbSNP:201559284
complement(2661)-t, cdbSNP:148066298
complement(2669)-g, adbSNP:145597257
complement(2744)-g, adbSNP:199513326
complement(2747)-g, adbSNP:141507311
complement(2761)-t, cdbSNP:35069201
complement(2802)-t, cdbSNP:145463591
complement(2852)-dbSNP:
complement(2852)-g, adbSNP:113857535
complement(2889)-g, adbSNP:149061186
complement(2941)-dbSNP:
complement(2941)-g, adbSNP:200473577
complement(2972)-t, cdbSNP:145788329
complement(2995)-c, adbSNP:28678764
complement(3023)-dbSNP:
complement(3023)-t, cdbSNP:112041571
complement(3072)-t, cdbSNP:183985902
complement(3087)-g, adbSNP:148993210
complement(3108)-dbSNP:
complement(3108)-t, cdbSNP:79459762
complement(3117)-t, cdbSNP:202222288
complement(3127)-t, cdbSNP:200354286
complement(3141)-g, adbSNP:141078391
complement(3160)-t, gdbSNP:181657162
complement(3222)-g, adbSNP:200843098
complement(3239)-g, adbSNP:147741987
complement(3282)-dbSNP:
complement(3282)-t, cdbSNP:145695710
complement(3291)-c, adbSNP:141543407
complement(3347)-t, gdbSNP:200690084
complement(3356)-g, adbSNP:142285781
complement(3357)-t, cdbSNP:200204694
complement(3477)-t, cdbSNP:185306673
complement(3486)-dbSNP:
complement(3486)-g, adbSNP:199757621
complement(3516)-g, cdbSNP:144681428
complement(3558)-g, adbSNP:34803922
complement(3588)-dbSNP:
complement(3588)-g, adbSNP:144009592
complement(3596)-t, adbSNP:149935389
complement(3611)-t, cdbSNP:139161796
complement(3735)-dbSNP:
complement(3735)-t, cdbSNP:146271578
complement(3739)-c, adbSNP:117347582
complement(3796)-g, adbSNP:187899168
complement(3807)-t, adbSNP:148375509
complement(3857)-dbSNP:
complement(3857)-t, cdbSNP:139408969
complement(3863)-t, cdbSNP:201899517
complement(3889)-t, cdbSNP:199934267
complement(3939)-dbSNP:
complement(3939)-t, cdbSNP:149097306
complement(3952)-t, gdbSNP:148011271
complement(3960)-g, adbSNP:143517184
complement(3989)-g, adbSNP:181623854
complement(3995)-g, cdbSNP:149186253
complement(4013)-t, cdbSNP:138510410
complement(4032)-g, cdbSNP:147112447
complement(4110)-dbSNP:
complement(4110)-t, cdbSNP:141869423
complement(4143)-dbSNP:
complement(4143)-t, cdbSNP:143022130
complement(4210)-g, adbSNP:16957294
complement(4240)-dbSNP:
complement(4240)-g, cdbSNP:7175979
complement(4318)-dbSNP:
complement(4318)-g, adbSNP:149778120
complement(4323)-g, adbSNP:200749394
complement(4336)-g, adbSNP:4375635
complement(4357)-g, adbSNP:140972409
complement(4358)-g, adbSNP:35242751
complement(4380)-g, adbSNP:4375634
complement(4385)-t, cdbSNP:200770305
complement(4386)-g, adbSNP:199500128
complement(4416)-t, cdbSNP:151057109
complement(4425)-t, cdbSNP:142894633
complement(4451)-dbSNP:
complement(4451)-t, adbSNP:112540567
complement(4482)-g, adbSNP:199828697
complement(4483)-t, cdbSNP:139296068
complement(4512)-t, cdbSNP:200272415
complement(4541)-dbSNP:
complement(4541)-g, adbSNP:146245818
complement(4678)-dbSNP:
complement(4678)-t, gdbSNP:201384130
complement(4682)-g, adbSNP:143431275
complement(4708)-t, g, adbSNP:3917223
complement(4747)-t, cdbSNP:201595040
complement(4760)-c, adbSNP:201922951
complement(4810)-dbSNP:
complement(4810)-t, gdbSNP:145929255
complement(4816)-t, cdbSNP:147296247
complement(4869)-dbSNP:
complement(4869)-g, adbSNP:140959617
complement(4900)-t, cdbSNP:78948790
complement(4935)-dbSNP:
complement(4935)-t, adbSNP:200344888
complement(4953)-g, adbSNP:150744789
complement(4961)-g, adbSNP:141227308
complement(5004)-g, adbSNP:35996841
complement(5067)-g, adbSNP:200935129
complement(5073)-dbSNP:
complement(5073)-t, cdbSNP:113020762
complement(5100)-t, adbSNP:147089181
complement(5201)-dbSNP:
complement(5201)-t, cdbSNP:141828250
complement(5212)-g, adbSNP:201159906
complement(5268)-g, cdbSNP:139367236
complement(5271)-t, cdbSNP:16957277
complement(5279)-t, cdbSNP:149137306
complement(5311)-g, cdbSNP:201714735
complement(5313)-t, cdbSNP:145216577
complement(5350)-g, adbSNP:182619531
complement(5407)-t, adbSNP:191274063
complement(5429)-t, cdbSNP:62020698
complement(5503)-t, cdbSNP:111236961
complement(5518)-c, adbSNP:77199172
complement(5640)-g, adbSNP:3803341
complement(5659)-g, adbSNP:186367729
complement(5764)-c, adbSNP:181719334
complement(5824)-g, adbSNP:148759921
complement(5868)-t, gdbSNP:60683257
complement(6108)-g, adbSNP:190560710
complement(6116)-t, cdbSNP:118089933
complement(6120)-t, adbSNP:186595172
complement(6138)-c, adbSNP:7178732
complement(6171)-g, adbSNP:181903945
complement(6215)-c, adbSNP:79826730
complement(6231)-t, cdbSNP:7178567
complement(6358)-g, adbSNP:190464027
complement(6360)-t, cdbSNP:184351682
complement(6443)-g, adbSNP:28374170
complement(6487)-g, adbSNP:180754438
complement(7088..7089)-, gdbSNP:34905366
complement(7096)-t, cdbSNP:144476911
complement(7174)-t, cdbSNP:189631484
complement(7259)-g, adbSNP:17776090
complement(7312)-t, gdbSNP:139777253
complement(7346..7347)-, gdbSNP:34368044
complement(7472)-g, adbSNP:146299171
complement(7526)-g, adbSNP:2306126
complement(7538)-t, adbSNP:79751709
Gene SymbolUBR1
Gene SynonymJBS
Chromosome15
Locus Map15q13
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_174916 Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. Full Length $3491.10
ORF Sequence $2362.50
Title Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach .
Author Schoner,K., Fritz,B., Huelskamp,G., Louwen,F., Zenker,M., Moll,R. and Rehder,H.
Journal Pediatr. Dev. Pathol. 15 (1), 50-57 (2012)
Title Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome .
Author Fallahi,G.H., Sabbaghian,M., Khalili,M., Parvaneh,N., Zenker,M. and Rezaei,N.
Journal Eur. J. Pediatr. 170 (2), 233-235 (2011)
Title Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome .
Author Hwang,C.S., Sukalo,M., Batygin,O., Addor,M.C., Brunner,H., Aytes,A.P., Mayerle,J., Song,H.K., Varshavsky,A. and Zenker,M.
Journal PLoS ONE 6 (9), E24925 (2011)
Title Ser(120) of Ubc2/Rad6 regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1 .
Author Kumar,B., Lecompte,K.G., Klein,J.M. and Haas,A.L.
Journal J. Biol. Chem. 285 (53), 41300-41309 (2010)
Title Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing .
Author Alkhouri,N., Kaplan,B., Kay,M., Shealy,A., Crowe,C., Bauhuber,S. and Zenker,M.
Journal World J. Gastroenterol. 14 (44), 6863-6866 (2008)
Title Large-scale characterization of HeLa cell nuclear phosphoproteins .
Author Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E., Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
Journal Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004)
Title Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1 .
Author Dgany,O., Avidan,N., Delaunay,J., Krasnov,T., Shalmon,L., Shalev,H., Eidelitz-Markus,T., Kapelushnik,J., Cattan,D., Pariente,A., Tulliez,M., Cretien,A., Schischmanoff,P.O., Iolascon,A., Fibach,E., Koren,A., Rossler,J., Le Merrer,M., Yaniv,I., Zaizov,R., Ben-Asher,E., Olender,T., Lancet,D., Beckmann,J.S. and Tamary,H.
Journal Am. J. Hum. Genet. 71 (6), 1467-1474 (2002)
Title The mouse and human genes encoding the recognition component of the N-end rule pathway .
Author Kwon,Y.T., Reiss,Y., Fried,V.A., Hershko,A., Yoon,J.K., Gonda,D.K., Sangan,P., Copeland,N.G., Jenkins,N.A. and Varshavsky,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (14), 7898-7903 (1998)
Title The N-end rule: functions, mysteries, uses .
Author Varshavsky,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 93 (22), 12142-12149 (1996)
Title A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene .
Author Chiannilkulchai,N., Pasturaud,P., Richard,I., Auffray,C. and Beckmann,J.S.
Journal Hum. Mol. Genet. 4 (4), 717-725 (1995)

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