Q15029 (U5S1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 151.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: 116 kDa U5 small nuclear ribonucleoprotein component Alternative name(s): Elongation factor Tu GTP-binding domain-containing protein 2 SNU114 homolog Short name=hSNU114 U5 snRNP-specific protein, 116 kDa Short name=U5-116 kDa | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference 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 and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP. |
| Subunit structure | Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex. Interacts with ERBB4 and PRPF8. Ref.7 Ref.8 Ref.10 Ref.12 |
| Subcellular location | |
| Involvement in disease | Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]: A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate. |
| Sequence similarities | Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily. |
| Sequence caution | The sequence BAA04699.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | mRNA processing mRNA splicing |
| Cellular component | Nucleus Spliceosome |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Mental retardation |
| Ligand | GTP-binding Nucleotide-binding |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | mRNA splicing, via spliceosome Inferred by curator Ref.8. Source: UniProtKB |
| Cellular_component | Cajal body Inferred from direct assay PubMed 15257298. Source: BHF-UCL catalytic step 2 spliceosomeInferred from direct assay Ref.8. Source: UniProtKB cytoplasmInferred from direct assay. Source: HPA nuclear speckInferred from direct assay PubMed 15257298. Source: BHF-UCL |
| Molecular_function | GTP binding Inferred from electronic annotation. Source: UniProtKB-KW GTPase activityTraceable author statement Ref.6. Source: ProtInc |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| MYC | P01106 | 5 | EBI-357897,EBI-447544 | |
| PRPF8 | Q6P2Q9 | 2 | EBI-357897,EBI-538479 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q15029-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q15029-2) The sequence of this isoform differs from the canonical sequence as follows: 1-35: Missing. |
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.13 Ref.15 | ||||||
| Modified residue | 19 | 1 | Phosphoserine Ref.9 Ref.13 Ref.15 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 35 | 35 | Missing in isoform 2. | VSP_044282 | |||||
| Natural variant | 262 | 1 | R → W in MFDM. Ref.16 | VAR_067580 | |||||
| Natural variant | 476 | 1 | C → R in MFDM. Ref.16 | VAR_067581 | |||||
| Natural variant | 637 | 1 | L → R in MFDM. Ref.16 | VAR_067582 | |||||
| Natural variant | 773 | 1 | G → V. Corresponds to variant rs1056505 [ dbSNP | Ensembl ]. | VAR_014931 | |||||
Experimental info | |||||||||
| Sequence conflict | 321 | 1 | G → V in AAH02360. Ref.5 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide '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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Bone marrow. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Thalamus. |
| [3] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Muscle. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PRPF8. |
| [8] | "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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPLICEOSOMAL C COMPLEX. |
| [9] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP." Liu S., Rauhut R., Vornlocher H.-P., Luehrmann R. RNA 12:1418-1430(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT. |
| [11] | "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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney. |
| [12] | "Interactions of ErbB4 and Kap1 connect the growth factor and DNA damage response pathways." Gilmore-Hebert M., Ramabhadran R., Stern D.F. Mol. Cancer Res. 8:1388-1398(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, INTERACTION WITH ERBB4, SUBCELLULAR LOCATION. |
| [13] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." 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. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [14] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [15] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19, MASS SPECTROMETRY. |
| [16] | "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly." Lines M.A., Huang L., Schwartzentruber J., Douglas S.L., Lynch D.C., Beaulieu C., Guion-Almeida M.L., Zechi-Ceide R.M., Gener B., Gillessen-Kaesbach G., Nava C., Baujat G., Horn D., Kini U., Caliebe A., Alanay Y., Utine G.E., Lev D. Boycott K.M.Am. J. Hum. Genet. 90:369-377(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MFDM TRP-262; ARG-476 AND ARG-637. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | D21163 mRNA. Translation: BAA04699.2. Different initiation. AK296367 mRNA. Translation: BAG59042.1. AK316098 mRNA. Translation: BAH14469.1. AC015936 Genomic DNA. No translation available. CH471178 Genomic DNA. Translation: EAW51573.1. CH471178 Genomic DNA. Translation: EAW51574.1. BC002360 mRNA. Translation: AAH02360.1. |
| IPI | IPI00003519. |
| RefSeq | NP_001136077.1. NM_001142605.1. NP_001245282.1. NM_001258353.1. NP_004238.3. NM_004247.3. |
| UniGene | Hs.151787. |
3D structure databases | |
| ProteinModelPortal | Q15029. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q15029. 25 interactions. |
| MINT | MINT-1161890. |
| STRING | 9606.ENSP00000262414. |
PTM databases | |
| PhosphoSite | Q15029. |
Polymorphism databases | |
| DMDM | 18202501. |
Proteomic databases | |
| PaxDb | Q15029. |
| PeptideAtlas | Q15029. |
| PRIDE | Q15029. |
Protocols and materials databases | |
| DNASU | 9343. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000402521; ENSP00000385873; ENSG00000108883. ENST00000426333; ENSP00000392094; ENSG00000108883. ENST00000591382; ENSP00000467805; ENSG00000108883. |
| GeneID | 9343. |
| KEGG | hsa:9343. |
| UCSC | uc002ihn.2. human. |
Organism-specific databases | |
| CTD | 9343. |
| GeneCards | GC17M042927. |
| H-InvDB | HIX0135614. |
| HGNC | HGNC:30858. EFTUD2. |
| HPA | HPA022021. |
| MIM | 603892. gene. 610536. phenotype. |
| neXtProt | NX_Q15029. |
| Orphanet | 79113. Mandibulofacial dysostosis-microcephaly syndrome. |
| PharmGKB | PA142671915. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0480. |
| HOGENOM | HOG000231589. |
| HOVERGEN | HBG001838. |
| InParanoid | Q15029. |
| KO | K12852. |
| OMA | LGNVCFA. |
| OrthoDB | EOG4001HJ. |
| PhylomeDB | Q15029. |
Enzyme and pathway databases | |
| Reactome | REACT_1675. mRNA Processing. REACT_71. Gene Expression. |
Gene expression databases | |
| ArrayExpress | Q15029. |
| Bgee | Q15029. |
| CleanEx | HS_EFTUD2. |
| Genevestigator | Q15029. |
| GermOnline | ENSG00000108883. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.30.230.10. 1 hit. 3.30.70.240. 1 hit. |
| InterPro | IPR000795. EF_GTP-bd_dom. IPR009022. EFG_III-V. IPR000640. EFG_V. IPR020568. Ribosomal_S5_D2-typ_fold. IPR014721. Ribosomal_S5_D2-typ_fold_subgr. IPR005225. Small_GTP-bd_dom. IPR005517. Transl_elong_EFG/EF2_IV. IPR004161. Transl_elong_EFTu/EF1A_2. IPR009000. Transl_elong_init/rib_B-barrel. [Graphical view] |
| 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] |
| SUPFAM | SSF54980. EFG_III_V. 2 hits. SSF54211. Ribosomal_S5_D2-typ_fold. 1 hit. SSF50447. Translat_factor. 1 hit. |
| TIGRFAMs | TIGR00231. small_GTP. 1 hit. |
| PROSITE | PS00301. EFACTOR_GTP. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | EFTUD2. human. |
| GenomeRNAi | 9343. |
| NextBio | 34995. |
| SOURCE | Search... |
Entry information
| Entry name | U5S1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q15029 Secondary accession number(s): B4DK30, D3DX58, Q9BUR0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
