InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EFTUD2

Summary

InnateDB Protein

IDBP-294871.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EFTUD2

Protein Name

elongation factor Tu GTP binding domain containing 2

Synonyms

MFDGA; MFDM; SNRNP116; Snrp116; Snu114; U5-116KD;

Species

Homo sapiens

Ensembl Protein

ENSP00000385873

InnateDB Gene

IDBG-54412 (EFTUD2)

Protein Structure

UniProt Annotation

Function

Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP.

Subcellular Localization

Nucleus {ECO:0000269PubMed:20858735}.

Disease Associations

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. {ECO:0000269PubMed:22305528}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 147 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	147 [view]
Protein-Protein	144 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000398	mRNA splicing, via spliceosome
GO:0006184	GTP catabolic process
GO:0006397	mRNA processing
GO:0007264	small GTPase mediated signal transduction
GO:0008380	RNA splicing
GO:0010467	gene expression
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005681	spliceosomal complex
GO:0005737	cytoplasm
GO:0015030	Cajal body
GO:0016020	membrane
GO:0016607	nuclear speck
GO:0071013	catalytic step 2 spliceosome

Protein Structure and Domains

PDB ID

InterPro

IPR000640 Translation elongation factor EFG, V domain
IPR000795 Elongation factor, GTP-binding domain
IPR004161 Translation elongation factor EFTu/EF1A, domain 2
IPR005225 Small GTP-binding protein domain
IPR005517 Translation elongation factor EFG/EF2, domain IV
IPR009000 Translation protein, beta-barrel domain
IPR009022 Elongation factor G, III-V domain
IPR013684 Mitochondrial Rho-like
IPR020568 Ribosomal protein S5 domain 2-type fold
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00679
PF00009
PF03144
PF03764
PF14492
PF08477

PRINTS

PR00315

PIRSF

SMART

SM00838
SM00889

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt