Q969S9 (RRF2M_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 105.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Ribosome-releasing factor 2, mitochondrial Short name=RRF2mt Alternative name(s): Elongation factor G 2, mitochondrial Short name=EF-G2mt Short name=mEF-G 2 Elongation factor G2 Short name=hEFG2 | ||||||
| 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 | 779 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation. Ref.7 |
| Subcellular location | Mitochondrion By similarity. |
| Tissue specificity | Widely expressed. Ref.1 |
| Sequence similarities | Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein biosynthesis |
| Cellular component | Mitochondrion |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transit peptide |
| Ligand | GTP-binding Nucleotide-binding |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | mitochondrial translation Inferred from direct assay Ref.7. Source: UniProtKB ribosome disassemblyInferred from direct assay Ref.7. Source: UniProtKB |
| Cellular_component | mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | GTP binding Inferred from electronic annotation. Source: UniProtKB-KW GTPase activityInferred from direct assay Ref.7. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q969S9-1) 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: Q969S9-2) The sequence of this isoform differs from the canonical sequence as follows: 361-407: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q969S9-3) The sequence of this isoform differs from the canonical sequence as follows: 608-609: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q969S9-4) The sequence of this isoform differs from the canonical sequence as follows: 530-531: TV → IP 532-709: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q969S9-5) The sequence of this isoform differs from the canonical sequence as follows: 504-513: DLEHALKCLQ → GINGLSVSTN 514-779: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – ? | Mitochondrion Potential | |||||||
| Chain | ? – 779 | Ribosome-releasing factor 2, mitochondrial | PRO_0000007450 | ||||||
Regions | |||||||||
| Nucleotide binding | 77 – 84 | 8 | GTP By similarity | ||||||
| Nucleotide binding | 141 – 145 | 5 | GTP By similarity | ||||||
| Nucleotide binding | 195 – 198 | 4 | GTP By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 361 – 407 | 47 | Missing in isoform 2. | VSP_001363 | |||||
| Alternative sequence | 504 – 513 | 10 | DLEHALKCLQ → GINGLSVSTN in isoform 5. | VSP_038190 | |||||
| Alternative sequence | 514 – 779 | 266 | Missing in isoform 5. | VSP_038191 | |||||
| Alternative sequence | 530 – 531 | 2 | TV → IP in isoform 4. | VSP_038192 | |||||
| Alternative sequence | 532 – 709 | 178 | Missing in isoform 4. | VSP_038193 | |||||
| Alternative sequence | 608 – 609 | 2 | Missing in isoform 3. | VSP_038194 | |||||
| Natural variant | 64 | 1 | N → S. Corresponds to variant rs957680 [ dbSNP | Ensembl ]. | VAR_053983 | |||||
| Natural variant | 300 | 1 | S → C. Corresponds to variant rs16872235 [ dbSNP | Ensembl ]. | VAR_053984 | |||||
| Natural variant | 425 | 1 | P → H. Ref.6 Corresponds to variant rs17852780 [ dbSNP | Ensembl ]. | VAR_060200 | |||||
| Natural variant | 594 | 1 | E → G. Ref.6 Corresponds to variant rs17856872 [ dbSNP | Ensembl ]. | VAR_060201 | |||||
| Natural variant | 735 | 1 | E → G. Ref.6 Corresponds to variant rs17856871 [ dbSNP | Ensembl ]. | VAR_060202 | |||||
| Natural variant | 774 | 1 | R → Q. Corresponds to variant rs1048167 [ dbSNP | Ensembl ]. | VAR_053985 | |||||
Experimental info | |||||||||
| Sequence conflict | 59 | 1 | L → I in AAH30612. Ref.6 | ||||||
| Sequence conflict | 201 | 1 | G → V in AAS49035. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution." Hammarsund M., Wilson W., Corcoran M., Merup M., Einhorn S., Grander D., Sangfelt O. Hum. Genet. 109:542-550(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "Cloning of elongation factor G isoform." Zheng M., Xie Y., Mao Y. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). |
| [3] | "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 5). Tissue: Colon. |
| [4] | Xu Y.Y., Sun L.Z., Wu Q.Y., Liu Y.Q., Liu B., Zhao B., Wang X.Y., Song L., Ye J., Sheng H., Gao Y., Zhang C.L., Zhang J., Wei Y.J., Sun Y.H., Jiang Y.X., Zhao X.W., Liu S. Hui R.T.Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Aorta. |
| [5] | 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORMS 1 AND 3), VARIANTS HIS-425; GLY-594 AND GLY-735. Tissue: Brain and Skin. |
| [7] | "EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis." Tsuboi M., Morita H., Nozaki Y., Akama K., Ueda T., Ito K., Nierhaus K.H., Takeuchi N. Mol. Cell 35:502-510(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [8] | "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]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF367997 mRNA. Translation: AAK53401.1. AY453587 mRNA. Translation: AAS49035.1. AK025314 mRNA. Translation: BAB15109.1. AF111808 mRNA. Translation: AAL39010.1. CH471084 Genomic DNA. Translation: EAW95744.1. BC015712 mRNA. Translation: AAH15712.1. BC030612 mRNA. Translation: AAH30612.1. |
| IPI | IPI00071703. IPI00172648. IPI00216419. IPI00945410. IPI00946969. |
| RefSeq | NP_115756.2. NM_032380.3. NP_733781.1. NM_170681.1. NP_733792.1. NM_170691.1. |
| UniGene | Hs.277154. |
3D structure databases | |
| ProteinModelPortal | Q969S9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q969S9. 2 interactions. |
| STRING | 9606.ENSP00000296805. |
PTM databases | |
| PhosphoSite | Q969S9. |
Polymorphism databases | |
| DMDM | 28201798. |
Proteomic databases | |
| PaxDb | Q969S9. |
| PRIDE | Q969S9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000296805; ENSP00000296805; ENSG00000164347. ENST00000345239; ENSP00000296804; ENSG00000164347. ENST00000427854; ENSP00000405808; ENSG00000164347. ENST00000509430; ENSP00000427004; ENSG00000164347. |
| GeneID | 84340. |
| KEGG | hsa:84340. |
| UCSC | uc003kdh.1. human. uc003kdi.1. human. uc003kdj.1. human. |
Organism-specific databases | |
| CTD | 84340. |
| GeneCards | GC05M074052. |
| HGNC | HGNC:29682. GFM2. |
| HPA | HPA036863. |
| MIM | 606544. gene. |
| neXtProt | NX_Q969S9. |
| PharmGKB | PA134949527. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0480. |
| HOGENOM | HOG000231585. |
| InParanoid | Q969S9. |
| KO | K02355. |
| OMA | RKATINM. |
| OrthoDB | EOG4NKBV3. |
| PhylomeDB | Q969S9. |
Gene expression databases | |
| ArrayExpress | Q969S9. |
| Bgee | Q969S9. |
| CleanEx | HS_GFM2. |
| Genevestigator | Q969S9. |
| GermOnline | ENSG00000164347. 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. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | GFM2. human. |
| GenomeRNAi | 84340. |
| NextBio | 74121. |
| SOURCE | Search... |
Entry information
| Entry name | RRF2M_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q969S9 Secondary accession number(s): A0AR28 Q9H6Z1 | ||||||||
| 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 5 Human chromosome 5: 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
