Reviewed, UniProtKB/Swiss-Prot Q15029 (U5S1_HUMAN)

Names and origin

Protein names

Recommended name:
    116 kDa U5 small nuclear ribonucleoprotein component
Alternative name(s):
    U5 snRNP-specific protein, 116 kDa
      Short name=U5-116 kDa
    Elongation factor Tu GTP-binding domain-containing protein 2
    hSNU114

Gene names

Name:	EFTUD2
Synonyms:	KIAA0031, SNRP116

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	972 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Component of the U5 snRNP complex required for pre-mRNA splicing.
Subunit structure	Identified in the spliceosome C complex, at least composed of AQR, ASCC3L1, C19orf29, CDC40, CDC5L, CRNKL1, DDX23, DDX41, DDX48, DDX5, DGCR14, DHX35, DHX38, DHX8, EFTUD2, FRG1, GPATC1, HNRPA1, HNRPA2B1, HNRPA3, HNRPC, HNRPF, HNRPH1, HNRPK, HNRPM, HNRPR, HNRPU, KIAA1160, KIAA1604, LSM2, LSM3, MAGOH, MORG1, PABPC1, PLRG1, PNN, PPIE, PPIL1, PPIL3, PPWD1, PRPF19, PRPF4B, PRPF6, PRPF8, RALY, RBM22, RBM8A, RBMX, SART1, SF3A1, SF3A2, SF3A3, SF3B1, SF3B2, SF3B3, SFRS1, SKIV2L2, SNRPA1, SNRPB, SNRPB2, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, SNW1, SRRM1, SRRM2, SYF2, SYNCRIP, TFIP11, THOC4, U2AF1, WDR57, XAB2 and ZCCHC8. Binds GTP. Interacts with PRPF8. Ref.4
Subcellular location	Nucleus.
Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.6 Ref.7 Ref.8 Ref.10 Ref.11
Sequence similarities	Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Polymorphism
Ligand	GTP-binding Nucleotide-binding
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	RNA splicing Ref.3 Inferred from Experiment. Source: Reactome mRNA processing Ref.3 Traceable author statement. Source: ProtInc
Cellular component	Cajal body Inferred from direct assay. Source: UniProtKB nuclear speck Inferred from direct assay. Source: UniProtKB spliceosomal complex Ref.3 Traceable author statement. Source: ProtInc
Molecular function	GTP binding Inferred from electronic annotation. Source: UniProtKB-KW GTPase activity Ref.3 Traceable author statement. Source: ProtInc protein binding Ref.4 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CD2BP2	O95400	1	EBI-357897,EBI-768015
GSTK1	Q9Y2Q3	1	EBI-357897,EBI-1053767
MYC	P01106	2	EBI-357897,EBI-447544
PHLDA3	Q9Y5J5	1	EBI-357897,EBI-1055859
PRPF8	Q6P2Q9	1	EBI-357897,EBI-538479
RNPS1	Q15287	1	EBI-357897,EBI-395959
SNRNP40	Q96DI7	2	EBI-357897,EBI-538492
SNRPB	P14678	1	EBI-357897,EBI-372458

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 972	972	116 kDa U5 small nuclear ribonucleoprotein component		PRO_0000091563
Regions
	Nucleotide binding	136 – 143	8	GTP Potential
	Nucleotide binding	204 – 208	5	GTP Potential
	Nucleotide binding	258 – 261	4	GTP Potential
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.10
	Modified residue	19	1	Phosphoserine Ref.7 Ref.10
	Modified residue	30	1	Phosphothreonine Ref.10
	Modified residue	86	1	Phosphothreonine Ref.6 Ref.8
	Modified residue	944	1	Phosphoserine Ref.11
Natural variations
	Natural variant	773	1	G → V: dbSNP rs1056505.		VAR_014931
Experimental info
	Sequence conflict	321	1	G → V in AAH02360. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q15029-1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 862BD6CA7993F118	FASTA	972	109,436
	10 20 30 40 50 60 MDTDLYDEFG NYIGPELDSD EDDDELGRET KDLDEMDDDD DDDDVGDHDD DHPGMEVVLH 70 80 90 100 110 120 EDKKYYPTAE EVYGPEVETI VQEEDTQPLT EPIIKPVKTK KFTLMEQTLP VTVYEMDFLA 130 140 150 160 170 180 DLMDNSELIR NVTLCGHLHH GKTCFVDCLI EQTHPEIRKR YDQDLCYTDI LFTEQERGVG 190 200 210 220 230 240 IKSTPVTVVL PDTKGKSYLF NIMDTPGHVN FSDEVTAGLR ISDGVVLFID AAEGVMLNTE 250 260 270 280 290 300 RLIKHAVQER LAVTVCINKI DRLILELKLP PTDAYYKLRH IVDEVNGLIS MYSTDENLIL 310 320 330 340 350 360 SPLLGNVCFS SSQYSICFTL GSFAKIYADT FGDINYQEFA KRLWGDIYFN PKTRKFTKKA 370 380 390 400 410 420 PTSSSQRSFV EFILEPLYKI LAQVVGDVDT SLPRTLDELG IHLTKEELKL NIRPLLRLVC 430 440 450 460 470 480 KKFFGEFTGF VDMCVQHIPS PKVGAKPKIE HTYTGGVDSD LGEAMSDCDP DGPLMCHTTK 490 500 510 520 530 540 MYSTDDGVQF HAFGRVLSGT IHAGQPVKVL GENYTLEDEE DSQICTVGRL WISVARYHIE 550 560 570 580 590 600 VNRVPAGNWV LIEGVDQPIV KTATITEPRG NEEAQIFRPL KFNTTSVIKI AVEPVNPSEL 610 620 630 640 650 660 PKMLDGLRKV NKSYPSLTTK VEESGEHVIL GTGELYLDCV MHDLRKMYSE IDIKVADPVV 670 680 690 700 710 720 TFCETVVETS SLKCFAETPN KKNKITMIAE PLEKGLAEDI ENEVVQITWN RKKLGEFFQT 730 740 750 760 770 780 KYDWDLLAAR SIWAFGPDAT GPNILVDDTL PSEVDKALLG SVKDSIVQGF QWGTREGPLC 790 800 810 820 830 840 DELIRNVKFK ILDAVVAQEP LHRGGGQIIP TARRVVYSAF LMATPRLMEP YYFVEVQAPA 850 860 870 880 890 900 DCVSAVYTVL ARRRGHVTQD APIPGSPLYT IKAFIPAIDS FGFETDLRTH TQGQAFSLSV 910 920 930 940 950 960 FHHWQIVPGD PLDKSIVIRP LEPQPAPHLA REFMIKTRRR KGLSEDVSIS KFFDDPMLLE 970 LAKQDVVLNY PM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1." Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S. DNA Res. 1:27-35(1994) [PubMed: 7584026] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Muscle.
[3]	"An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2." Fabrizio P., Laggerbauer B., Lauber J., Lane W.S., Luehrmann R. EMBO J. 16:4092-4106(1997) [PubMed: 9233818] [Abstract] Cited for: CHARACTERIZATION.
[4]	"The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein." Achsel T., Ahrens K., Brahms H., Teigelkamp S., Luehrmann R. Mol. Cell. Biol. 18:6756-6766(1998) [PubMed: 9774689] [Abstract] Cited for: INTERACTION WITH PRPF8.
[5]	"Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis." Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J. RNA 8:426-439(2002) [PubMed: 11991638] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPICEOSOMAL C COMPLEX.
[6]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-86, MASS SPECTROMETRY. Tissue: Epithelium.
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19, MASS SPECTROMETRY. Tissue: Epithelium.
[8]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." 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. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-86, MASS SPECTROMETRY.
[9]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[10]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19 AND THR-30, MASS SPECTROMETRY.
[11]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-944, MASS SPECTROMETRY. Tissue: T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D21163 mRNA. Translation: BAA04699.2. Different initiation. BC002360 mRNA. Translation: AAH02360.1.
IPI	IPI00003519.
RefSeq	NP_001136077.1. NP_004238.3.
UniGene	Hs.151787
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q15029. 18 interactions.
STRING	Q15029.
PTM databases
PhosphoSite	Q15029.
Proteomic databases
PeptideAtlas	Q15029.
PRIDE	Q15029.
Genome annotation databases
Ensembl	ENST00000262414; ENSP00000262414; ENSG00000108883; Homo sapiens. [Genome view] ENST00000426333; ENSP00000392094; ENSG00000108883; Homo sapiens. [Genome view]
GeneID	9343.
KEGG	hsa:9343.
UCSC	uc002ihn.1. human.
Organism-specific databases
CTD	9343.
GeneCards	GC17M040285.
H-InvDB	HIX0013887. HIX0039342.
HGNC	HGNC:30858. EFTUD2.
HPA	HPA022021.
MIM	603892. gene.
PharmGKB	PA142671915.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07288.
HOGENOM	HBG737692.
HOVERGEN	Q15029.
InParanoid	Q15029.
OMA	WVLIEGI.
PhylomeDB	Q15029.
Enzyme and pathway databases
Reactome	REACT_125. Processing of Capped Intron-Containing Pre-mRNA. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	Q15029.
Bgee	Q15029.
CleanEx	HS_EFTUD2.
Genevestigator	Q15029.
GermOnline	ENSG00000108883. Homo sapiens.
Family and domain databases
InterPro	IPR009022. Elongation_fac_G/III/V. IPR000795. ProtSyn_GTP_bd. IPR020568. Ribosomal_S5_D2-typ_fold. IPR014721. Ribosomal_S5_D2-typ_fold_subgr. IPR005225. Small_GTP_bd. IPR000640. Transl_elong_EFG/EF2_C. IPR005517. Transl_elong_EFG/EF2_IV. IPR004161. Transl_elong_EFTu/EF1A_2. IPR009000. Transl_elong_init/rib_B-barrel. [Graphical view]
Gene3D	G3DSA:3.30.230.10. Ribosomal_S5_D2-type_fold. 1 hit.
Pfam	PF00679. EFG_C. 1 hit. PF03764. EFG_IV. 1 hit. PF00009. GTP_EFTU. 1 hit. PF03144. GTP_EFTU_D2. 1 hit. [Graphical view]
PRINTS	PR00315. ELONGATNFCT.
SMART	SM00838. EFG_C. 1 hit. SM00889. EFG_IV. 1 hit. [Graphical view]
TIGRFAMs	TIGR00231. small_GTP. 1 hit.
PROSITE	PS00301. EFACTOR_GTP. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	34995.
SOURCE	Search...

Entry information

Entry name

U5S1_HUMAN

Accession

Primary (citable) accession number: Q15029
Secondary accession number(s): Q9BUR0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	November 1, 1996
Last modified:	February 9, 2010
This is version 115 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.