Sequence of SMBP2_HUMAN
EC Number:3.6.4.13
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
a nucleoside triphosphate + H2O = a nucleoside diphosphate + phosphate
Other sequences found for EC No. 3.6.4.13
General information:
Sequence
0 MASAAVESFV TKQLDLLELE RDAEVEERRS WQENISLKEL QSRGVCLLKL QVSSQRTGLY
60 GRLLVTFEPR RYGSAAALPS NSFTSGDIVG LYDAANEGSQ LATGILTRVT QKSVTVAFDE
120 SHDFQLSLDR ENSYRLLKLA NDVTYRRLKK ALIALKKYHS GPASSLIEVL FGRSAPSPAS
180 EIHPLTFFNT CLDTSQKEAV LFALSQKELA IIHGPPGTGK TTTVVEIILQ AVKQGLKVLC
240 CAPSNIAVDN LVERLALCKQ RILRLGHPAR LLESIQQHSL DAVLARSDSA QIVADIRKDI
300 DQVFVKNKKT QDKREKSNFR NEIKLLRKEL KEREEAAMLE SLTSANVVLA TNTGASADGP
360 LKLLPESYFD VVVIDECAQA LEASCWIPLL KARKCILAGD HKQLPPTTVS HKAALAGLSL
420 SLMERLAEEY GARVVRTLTV QYRMHQAIMR WASDTMYLGQ LTAHSSVARH LLRDLPGVAA
480 TEETGVPLLL VDTAGCGLFE LEEEDEQSKG NPGEVRLVSL HIQALVDAGV PARDIAVVSP
540 YNLQVDLLRQ SLVHRHPELE IKSVDGFQGR EKEAVILSFV RSNRKGEVGF LAEDRRINVA
600 VTRARRHVAV ICDSRTVNNH AFLKTLVEYF TQHGEVRTAF EYLDDIVPEN YSHENSQGSS
660 HAATKPQGPA TSTRTGSQRQ EGGQEAAAPA RQGRKKPAGK SLASEAPSQP SLNGGSPEGV
720 ESQDGVDHFR AMIVEFMASK KMQLEFPPSL NSHDRLRVHQ IAEEHGLRHD SSGEGKRRFI
780 TVSKRAPRPR AALGPPAGTG GPAPLQPVPP TPAQTEQPPR EQRGPDQPDL RTLHLERLQR
840 VRSAQGQPAS KEQQASGQQK LPEKKKKKAK GHPATDLPTE EDFEALVSAA VKADNTCGFA
900 KCTAGVTTLG QFCQLCSRRY CLSHHLPEIH GCGERARAHA RQRISREGVL YAGSGTKNGS
960 LDPAKRAQLQ RRLDKKLSEL SNQRTSRRKE RGT
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
997312
Fukita Y.,Mizuta T.-R.,Shirozu M.,Ozawa K.,Shimizu A.,Honjo T.
The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region.
J. Biol. Chem.
268
17463-17470
1993
997313
Zhang Q.,Wang Y.C.,Montalvo E.A.
Smubp-2 represses the Epstein-Barr virus lytic switch promoter.
Virology
255
160-170
1999
997314
Taylor T.D.,Noguchi H.,Totoki Y.,Toyoda A.,Kuroki Y.,Dewar K.,Lloyd C.,Itoh T.,Takeda T.,Kim D.-W.,She X.,Barlow K.F.,Bloom T.,Bruford E.,Chang J.L.,Cuomo C.A.,Eichler E.,FitzGerald M.G.,Jaffe D.B.,LaButti K.,Nicol R.,Park H.-S.,Seaman C.,Sougnez C.,Yang X.,Zimmer A.R.,Zody M.C.,Birren B.W.,Nusbaum C.,Fujiyama A.,Hattori M.,Rogers J.,Lander E.S.,Sakaki Y.
Human chromosome 11 DNA sequence and analysis including novel gene identification.
Nature
440
497-500
2006
997315
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
997317
Kerr D.,Khalili K.
A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV.
J. Biol. Chem.
266
15876-15881
1991
997318
Matsuoka S.,Ballif B.A.,Smogorzewska A.,McDonald E.R. III,Hurov K.E.,Luo J.,Bakalarski C.E.,Zhao Z.,Solimini N.,Lerenthal Y.,Shiloh Y.,Gygi S.P.,Elledge S.J.
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Science
316
1160-1166
2007
997319
Guenther U.P.,Handoko L.,Laggerbauer B.,Jablonka S.,Chari A.,Alzheimer M.,Ohmer J.,Ploettner O.,Gehring N.,Sickmann A.,von Au K.,Schuelke M.,Fischer U.
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
Hum. Mol. Genet.
18
1288-1300
2009
997320
de Planell-Saguer M.,Schroeder D.G.,Rodicio M.C.,Cox G.A.,Mourelatos Z.
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
Hum. Mol. Genet.
18
2115-2126
2009
997321
Olsen J.V.,Vermeulen M.,Santamaria A.,Kumar C.,Miller M.L.,Jensen L.J.,Gnad F.,Cox J.,Jensen T.S.,Nigg E.A.,Brunak S.,Mann M.
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Sci. Signal.
3
0-0
2010
997322
Bienvenut W.V.,Sumpton D.,Martinez A.,Lilla S.,Espagne C.,Meinnel T.,Giglione C.
Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
Mol. Cell. Proteomics
11
0-0
2012
997323
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.
N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
Proc. Natl. Acad. Sci. U.S.A.
109
12449-12454
2012
997324
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
997325
Kanaan J.,Raj S.,Decourty L.,Saveanu C.,Croquette V.,Le Hir H.
UPF1-like helicase grip on nucleic acids dictates processivity.
Nat. Commun.
9
3752-3752
2018
997326
Liepinsh E.,Leonchiks A.,Sharipo A.,Guignard L.,Otting G.
Solution structure of the R3H domain from human Smubp-2.
J. Mol. Biol.
326
217-223
2003
997327
Jaudzems K.,Jia X.,Yagi H.,Zhulenkovs D.,Graham B.,Otting G.,Liepinsh E.
Structural basis for 5'-end-specific recognition of single-stranded DNA by the R3H domain from human Smubp-2.
J. Mol. Biol.
424
42-53
2012
997328
Lim S.C.,Bowler M.W.,Lai T.F.,Song H.
The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.
Nucleic Acids Res.
40
11009-11022
2012
997329
Grohmann K.,Schuelke M.,Diers A.,Hoffmann K.,Lucke B.,Adams C.,Bertini E.,Leonhardt-Horti H.,Muntoni F.,Ouvrier R.,Pfeufer A.,Rossi R.,Van Maldergem L.,Wilmshurst J.M.,Wienker T.F.,Sendtner M.,Rudnik-Schoeneborn S.,Zerres K.,Huebner C.
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Nat. Genet.
29
75-77
2001
997330
Grohmann K.,Varon R.,Stolz P.,Schuelke M.,Janetzki C.,Bertini E.,Bushby K.,Muntoni F.,Ouvrier R.,Van Maldergem L.,Goemans N.M.L.A.,Lochmueller H.,Eichholz S.,Adams C.,Bosch F.,Grattan-Smith P.,Navarro C.,Neitzel H.,Polster T.,Topaloglu H.,Steglich C.,Guenther U.P.,Zerres K.,Rudnik-Schoeneborn S.,Huebner C.
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Ann. Neurol.
54
719-724
2003
997331
Guenther U.P.,Schuelke M.,Bertini E.,D'Amico A.,Goemans N.,Grohmann K.,Huebner C.,Varon R.
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
Hum. Genet.
115
319-326
2004
997332
Maystadt I.,Zarhrate M.,Landrieu P.,Boespflug-Tanguy O.,Sukno S.,Collignon P.,Melki J.,Verellen-Dumoulin C.,Munnich A.,Viollet L.
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Hum. Mutat.
23
525-526
2004
997333
Tachi N.,Kikuchi S.,Kozuka N.,Nogami A.
A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
Pediatr. Neurol.
32
288-290
2005
997334
Guenther U.P.,Varon R.,Schlicke M.,Dutrannoy V.,Volk A.,Huebner C.,von Au K.,Schuelke M.
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Hum. Mutat.
28
808-815
2007
997335
Guenther U.P.,Handoko L.,Varon R.,Stephani U.,Tsao C.Y.,Mendell J.R.,Luetzkendorf S.,Huebner C.,von Au K.,Jablonka S.,Dittmar G.,Heinemann U.,Schuetz A.,Schuelke M.
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
J. Mol. Med.
87
31-41
2009
997336
Cottenie E.,Kochanski A.,Jordanova A.,Bansagi B.,Zimon M.,Horga A.,Jaunmuktane Z.,Saveri P.,Rasic V.M.,Baets J.,Bartsakoulia M.,Ploski R.,Teterycz P.,Nikolic M.,Quinlivan R.,Laura M.,Sweeney M.G.,Taroni F.,Lunn M.P.,Moroni I.,Gonzalez M.,Hanna M.G.,Bettencourt C.,Chabrol E.,Franke A.,von Au K.,Schilhabel M.,Kabzinska D.,Hausmanowa-Petrusewicz I.,Brandner S.,Lim S.C.,Song H.,Choi B.O.,Horvath R.,Chung K.W.,Zuchner S.,Pareyson D.,Harms M.,Reilly M.M.,Houlden H.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am. J. Hum. Genet.
95
590-601
2014
