Description: Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. RefSeq Summary (NM_004247): This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. Transcript (Including UTRs) Position: hg19 chr17:42,927,655-42,976,993 Size: 49,339 Total Exon Count: 28 Strand: - Coding Region Position: hg19 chr17:42,928,642-42,971,889 Size: 43,248 Coding Exon Count: 27
ID:U5S1_HUMAN DESCRIPTION: RecName: Full=116 kDa U5 small nuclear ribonucleoprotein component; AltName: Full=Elongation factor Tu GTP-binding domain-containing protein 2; AltName: Full=SNU114 homolog; Short=hSNU114; AltName: Full=U5 snRNP-specific protein, 116 kDa; Short=U5-116 kDa; FUNCTION: Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP. SUBUNIT: Identified in the spliceosome C complex. Interacts with ERBB4 and PRPF8. INTERACTION: P01106:MYC; NbExp=5; IntAct=EBI-357897, EBI-447544; Q6P2Q9:PRPF8; NbExp=2; IntAct=EBI-357897, EBI-538479; SUBCELLULAR LOCATION: Nucleus. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in EFTUD2 are the cause of 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. SIMILARITY: Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily. SEQUENCE CAUTION: Sequence=BAA04699.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15029
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK126464 - Homo sapiens cDNA FLJ44500 fis, clone UTERU3000828, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component. AB095268 - Homo sapiens anti-CLST11240 RNA, complete cds and antisense RNA to CLST11240, partial sequence. D21163 - Homo sapiens KIAA0031 mRNA. JD364917 - Sequence 345941 from Patent EP1572962. JD114074 - Sequence 95098 from Patent EP1572962. JD456335 - Sequence 437359 from Patent EP1572962. JD167339 - Sequence 148363 from Patent EP1572962. JD423996 - Sequence 405020 from Patent EP1572962. JD521324 - Sequence 502348 from Patent EP1572962. JD311301 - Sequence 292325 from Patent EP1572962. JD291069 - Sequence 272093 from Patent EP1572962. JD464264 - Sequence 445288 from Patent EP1572962. JD123887 - Sequence 104911 from Patent EP1572962. JD526397 - Sequence 507421 from Patent EP1572962. JD342584 - Sequence 323608 from Patent EP1572962. AK126652 - Homo sapiens cDNA FLJ44695 fis, clone BRACE3014714, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component. JD399431 - Sequence 380455 from Patent EP1572962. AK297392 - Homo sapiens cDNA FLJ55341 complete cds, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component. JD431832 - Sequence 412856 from Patent EP1572962. JD261908 - Sequence 242932 from Patent EP1572962. JD494552 - Sequence 475576 from Patent EP1572962. JD102447 - Sequence 83471 from Patent EP1572962. BC002360 - Homo sapiens elongation factor Tu GTP binding domain containing 2, mRNA (cDNA clone MGC:8581 IMAGE:2960986), complete cds. AK296367 - Homo sapiens cDNA FLJ59627 complete cds, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component. AJ505017 - Homo sapiens mRNA for U5 small nuclear ribonucleoprotein component (SNRP116 gene), trancript variant 2. AK126193 - Homo sapiens cDNA FLJ44205 fis, clone THYMU3001379, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component. AK128148 - Homo sapiens cDNA FLJ46271 fis, clone TESTI4028182, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component. AK293108 - Homo sapiens cDNA FLJ78483 complete cds, highly similar to Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), mRNA. BX647305 - Homo sapiens mRNA; cDNA DKFZp686E24196 (from clone DKFZp686E24196). JD264845 - Sequence 245869 from Patent EP1572962. JD300191 - Sequence 281215 from Patent EP1572962. AK225335 - Homo sapiens mRNA for 116 kDa U5 small nuclear ribonucleoprotein component variant, clone: HEP09509. AK302828 - Homo sapiens cDNA FLJ59645 complete cds, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component. JD132131 - Sequence 113155 from Patent EP1572962. JD413036 - Sequence 394060 from Patent EP1572962. AK316098 - Homo sapiens cDNA, FLJ78997 complete cds, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component. JD538462 - Sequence 519486 from Patent EP1572962. JD151171 - Sequence 132195 from Patent EP1572962. KJ898001 - Synthetic construct Homo sapiens clone ccsbBroadEn_07395 EFTUD2 gene, encodes complete protein. AB383716 - Synthetic construct DNA, clone: pF1KSDA0031, Homo sapiens EFTUD2 gene for 116 kDa U5 small nuclear ribonucleoprotein component, complete cds, without stop codon, in Flexi system. DQ894601 - Synthetic construct Homo sapiens clone IMAGE:100009061; FLH176836.01L; RZPDo839H11121D elongation factor Tu GTP binding domain containing 2 (EFTUD2) gene, encodes complete protein. EU176307 - Synthetic construct Homo sapiens clone IMAGE:100006387; FLH176843.01X; RZPDo839G04251D elongation factor Tu GTP binding domain containing 2 (EFTUD2) gene, encodes complete protein. CR456774 - Homo sapiens full open reading frame cDNA clone RZPDo834E104D for gene U5-116KD, U5 snRNP-specific protein, 116 kD; complete cds, incl. stopcodon. AK023790 - Homo sapiens cDNA FLJ13728 fis, clone PLACE3000119. CU677928 - Synthetic construct Homo sapiens gateway clone IMAGE:100017868 5' read EFTUD2 mRNA.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03040 - Spliceosome
Reactome (by CSHL, EBI, and GO)
Protein Q15029 (Reactome details) participates in the following event(s):
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-75081 Formation of AT-AC B Complex R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage R-HSA-75079 Formation of AT-AC C complex R-HSA-156661 Formation of Exon Junction Complex R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72165 mRNA Splicing - Minor Pathway R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-72172 mRNA Splicing R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-8953854 Metabolism of RNA
US Server
