Q5ST30 (SYVM_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 92.
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: Valine--tRNA ligase, mitochondrial EC=6.1.1.9 Alternative name(s): Valyl-tRNA synthetase Short name=ValRS Valyl-tRNA synthetase-like | ||||
| 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 | 1063 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)
| Catalytic activity | ATP + L-valine + tRNA(Val) = AMP + diphosphate + L-valyl-tRNA(Val). |
| Subcellular location | Mitochondrion Potential. |
| Sequence similarities | Belongs to the class-I aminoacyl-tRNA synthetase family. |
| Sequence caution | The sequence BAB15191.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB67778.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAD92716.1 differs from that shown. Reason: The sequence differs from that shown because it seems to be derived from a pre-mRNA. The sequence CAM24842.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAM25404.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAQ06763.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAQ09774.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAQ10925.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein biosynthesis |
| Cellular component | Mitochondrion |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transit peptide |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Aminoacyl-tRNA synthetase Ligase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | regulation of translational fidelity Inferred from electronic annotation. Source: GOC tRNA aminoacylation for protein translationTraceable author statement. Source: Reactome valyl-tRNA aminoacylationInferred from electronic annotation. Source: InterPro |
| Cellular_component | mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW aminoacyl-tRNA editing activityInferred from electronic annotation. Source: InterPro valine-tRNA ligase activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5ST30-1) 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: Q5ST30-2) The sequence of this isoform differs from the canonical sequence as follows: 1-644: MPHLPLASFR...QLTGQLPFSK → MVFFCPVPLF...PPLLTPPCPQ | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q5ST30-3) The sequence of this isoform differs from the canonical sequence as follows: 1-140: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q5ST30-4) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MGGKAWPRRAVGTAGGPCAEQISAPFQTLLM | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 26 | 26 | Mitochondrion Potential | ||||||
| Chain | 27 – 1063 | 1037 | Valine--tRNA ligase, mitochondrial | PRO_0000338000 | |||||
Regions | |||||||||
| Motif | 146 – 156 | 11 | "HIGH" region | ||||||
| Motif | 658 – 662 | 5 | "KMSKS" region | ||||||
Sites | |||||||||
| Binding site | 661 | 1 | ATP By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 644 | 644 | MPHLP…LPFSK → MVFFCPVPLFCPGLAPRDPR PCSFLPPVTFGNGQRPSAVL GGPHGHVGDPAHRAAALQQV WRPEIPRHLQGNPPLLTPPC PQ in isoform 2. | VSP_034032 | |||||
| Alternative sequence | 1 – 140 | 140 | Missing in isoform 3. | VSP_045483 | |||||
| Alternative sequence | 1 | 1 | M → MGGKAWPRRAVGTAGGPCAE QISAPFQTLLM in isoform 4. | VSP_046102 | |||||
| Natural variant | 26 | 1 | H → Y. Corresponds to variant rs6926224 [ dbSNP | Ensembl ]. | VAR_052651 | |||||
| Natural variant | 64 | 1 | G → R. Corresponds to variant rs6926723 [ dbSNP | Ensembl ]. | VAR_043730 | |||||
| Natural variant | 449 | 1 | W → R. Ref.2 Ref.3 Ref.4 Ref.5 Corresponds to variant rs2249464 [ dbSNP | Ensembl ]. | VAR_043731 | |||||
| Natural variant | 680 | 1 | V → L. Ref.2 Ref.3 Ref.4 Ref.5 Corresponds to variant rs2074506 [ dbSNP | Ensembl ]. | VAR_043732 | |||||
| Natural variant | 765 | 1 | V → M. Corresponds to variant rs55865499 [ dbSNP | Ensembl ]. | VAR_061910 | |||||
| Natural variant | 917 | 1 | R → Q. Ref.2 Ref.4 Ref.5 Corresponds to variant rs9394021 [ dbSNP | Ensembl ]. | VAR_043733 | |||||
| Natural variant | 965 | 1 | A → T. Ref.2 Ref.3 Ref.4 Ref.5 Ref.6 Corresponds to variant rs2252863 [ dbSNP | Ensembl ]. | VAR_043734 | |||||
| Natural variant | 1049 | 1 | R → Q. Ref.1 Ref.4 Ref.5 Corresponds to variant rs4678 [ dbSNP | Ensembl ]. | VAR_043735 | |||||
Experimental info | |||||||||
| Sequence conflict | 25 | 1 | F → S in BAG65557. Ref.2 | ||||||
| Sequence conflict | 156 | 1 | H → R in BAG57195. Ref.2 | ||||||
| Sequence conflict | 985 | 1 | E → G in BAB15191. Ref.2 | ||||||
| Sequence conflict | 1060 | 1 | S → G in BAG65557. Ref.2 | ||||||
Sequences
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References
| [1] | "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-1049. Tissue: Brain. |
| [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] (ISOFORMS 2; 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 416-1063 (ISOFORM 1), VARIANTS ARG-449; LEU-680; GLN-917 AND THR-965. Tissue: Cerebellum, Thalamus and Uterus. |
| [3] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ARG-449; LEU-680 AND THR-965. Tissue: Brain. |
| [4] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ARG-449; LEU-680; GLN-917; THR-965 AND GLN-1049. |
| [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), VARIANTS ARG-449; LEU-680; GLN-917; THR-965 AND GLN-1049. Tissue: Brain, Eye and Skin. |
| [6] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 748-1063 (ISOFORM 1), VARIANT THR-965. Tissue: Testis. |
| [7] | "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 | AB067472 mRNA. Translation: BAB67778.1. Different initiation. AK025618 mRNA. Translation: BAB15191.1. Different initiation. AK125069 mRNA. No translation available. AK293780 mRNA. Translation: BAG57195.1. AK304807 mRNA. Translation: BAG65557.1. AB209479 Transcribed RNA. Translation: BAD92716.1. Sequence problems. AL662854 Genomic DNA. Translation: CAI17437.1. AL662854 Genomic DNA. Translation: CAM24842.1. Sequence problems. AL669830 Genomic DNA. Translation: CAI18004.1. AL669830 Genomic DNA. Translation: CAM25404.1. Sequence problems. AL773541 Genomic DNA. Translation: CAI18453.1. BX927194 Genomic DNA. Translation: CAQ09774.1. Sequence problems. BX927194 Genomic DNA. Translation: CAQ09775.1. CR759747 Genomic DNA. Translation: CAQ06763.1. Sequence problems. CR759747 Genomic DNA. Translation: CAQ06764.1. CR936875 Genomic DNA. Translation: CAQ10925.1. Sequence problems. CR936875 Genomic DNA. Translation: CAQ10926.1. BC008844 mRNA. Translation: AAH08844.2. BC009355 mRNA. Translation: AAH09355.2. BC073838 mRNA. Translation: AAH73838.1. BC112054 mRNA. Translation: AAI12055.1. BC113605 mRNA. Translation: AAI13606.1. AL122037 mRNA. Translation: CAB59177.1. |
| IPI | IPI00644468. IPI00873561. IPI00895822. IPI00965955. |
| RefSeq | NP_001161205.1. NM_001167733.1. NP_001161206.1. NM_001167734.1. NP_065175.4. NM_020442.4. |
| UniGene | Hs.597526. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1WKA based on UniProtKB P96142. |
| ProteinModelPortal | Q5ST30. |
| SMR | Q5ST30. Positions 100-945. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q5ST30. 1 interaction. |
| STRING | 9606.ENSP00000408337. |
PTM databases | |
| PhosphoSite | Q5ST30. |
Polymorphism databases | |
| DMDM | 296452917. |
Proteomic databases | |
| PaxDb | Q5ST30. |
| PRIDE | Q5ST30. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000321897; ENSP00000316092; ENSG00000137411. ENST00000416670; ENSP00000394802; ENSG00000137411. ENST00000541562; ENSP00000441000; ENSG00000137411. ENST00000542001; ENSP00000438200; ENSG00000137411. |
| GeneID | 57176. |
| KEGG | hsa:57176. |
| UCSC | uc003nsc.2. human. uc010jsg.2. human. |
Organism-specific databases | |
| CTD | 57176. |
| GeneCards | GC06P030876. |
| H-InvDB | HIX0166334. HIX0166693. HIX0200924. |
| HGNC | HGNC:21642. VARS2. |
| MIM | 612802. gene. |
| neXtProt | NX_Q5ST30. |
| PharmGKB | PA164742816. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0525. |
| HOVERGEN | HBG017878. |
| InParanoid | Q5ST30. |
| KO | K01873. |
| OrthoDB | EOG4W9J34. |
Enzyme and pathway databases | |
| Reactome | REACT_71. Gene Expression. |
Gene expression databases | |
| ArrayExpress | Q5ST30. |
| Bgee | Q5ST30. |
| CleanEx | HS_VARS2. |
| Genevestigator | Q5ST30. |
Family and domain databases | |
| Gene3D | 3.40.50.620. 3 hits. 3.90.740.10. 1 hit. |
| InterPro | IPR001412. aa-tRNA-synth_I_CS. IPR002300. aa-tRNA-synth_Ia. IPR014729. Rossmann-like_a/b/a_fold. IPR009080. tRNAsynth_1a_anticodon-bd. IPR013155. V/L/I-tRNA-synth_anticodon-bd. IPR009008. Val/Leu/Ile-tRNA-synth_edit. IPR002303. Valyl-tRNA_ligase. [Graphical view] |
| PANTHER | PTHR11946:SF5. PTHR11946:SF5. 1 hit. |
| Pfam | PF08264. Anticodon_1. 1 hit. PF00133. tRNA-synt_1. 1 hit. [Graphical view] |
| PRINTS | PR00986. TRNASYNTHVAL. |
| SUPFAM | SSF47323. tRNAsyn_1a_bind. 1 hit. SSF50677. ValRS_IleRS_edit. 1 hit. |
| TIGRFAMs | TIGR00422. valS. 1 hit. |
| PROSITE | PS00178. AA_TRNA_LIGASE_I. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | VARS2. human. |
| GenomeRNAi | 57176. |
| NextBio | 63203. |
| SOURCE | Search... |
Entry information
| Entry name | SYVM_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5ST30 Secondary accession number(s): A2ABL7 Q9UFH7 | ||||||||
| 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
| Aminoacyl-tRNA synthetases List of aminoacyl-tRNA synthetase entries |
| Human chromosome 6 Human chromosome 6: 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
