Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 149 (13 Nov 2019)
Sequence version 2 (18 May 2010)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Valine--tRNA ligase, mitochondrial

Gene

VARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei661ATPBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAminoacyl-tRNA synthetase, Ligase
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-379726 Mitochondrial tRNA aminoacylation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Valine--tRNA ligase, mitochondrial (EC:6.1.1.9)
Alternative name(s):
Valyl-tRNA synthetase
Short name:
ValRS
Valyl-tRNA synthetase-like
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:VARS2
Synonyms:KIAA1885, VARS2L, VARSL
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21642 VARS2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612802 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5ST30

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined oxidative phosphorylation deficiency 20 (COXPD20)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071850337T → I in COXPD20; decreased levels of the protein. 1 PublicationCorresponds to variant dbSNP:rs587777585EnsemblClinVar.1
Natural variantiVAR_071851349A → T in COXPD20. 1 PublicationCorresponds to variant dbSNP:rs587777583EnsemblClinVar.1
Natural variantiVAR_071852596A → D in COXPD20. 1 PublicationCorresponds to variant dbSNP:rs587777584EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
57176

MalaCards human disease database

More...
MalaCardsi
VARS2
MIMi615917 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000137411

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
420728 Combined oxidative phosphorylation defect type 20

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164742816

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5ST30

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VARS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296452917

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 26MitochondrionSequence analysisAdd BLAST26
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000033800027 – 1063Valine--tRNA ligase, mitochondrialAdd BLAST1037

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5ST30

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5ST30

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5ST30

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5ST30

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5ST30

PeptideAtlas

More...
PeptideAtlasi
Q5ST30

PRoteomics IDEntifications database

More...
PRIDEi
Q5ST30

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
24437
26145
63892 [Q5ST30-1]
63893 [Q5ST30-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5ST30

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5ST30

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000137411 Expressed in 198 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5ST30 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5ST30 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA062449
HPA070267

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121426, 18 interactors

Protein interaction database and analysis system

More...
IntActi
Q5ST30, 16 interactors

Molecular INTeraction database

More...
MINTi
Q5ST30

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000441000

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi146 – 156'HIGH' regionAdd BLAST11
Motifi658 – 662'KMSKS' region5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0432 Eukaryota
COG0525 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159890

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5ST30

KEGG Orthology (KO)

More...
KOi
K01873

Identification of Orthologs from Complete Genome Data

More...
OMAi
RQWYIRN

Database of Orthologous Groups

More...
OrthoDBi
229591at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5ST30

TreeFam database of animal gene trees

More...
TreeFami
TF354250

Family and domain databases

Conserved Domains Database

More...
CDDi
cd07962 Anticodon_Ia_Val, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.620, 2 hits
3.90.740.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR002300 aa-tRNA-synth_Ia
IPR033705 Anticodon_Ia_Val
IPR013155 M/V/L/I-tRNA-synth_anticd-bd
IPR014729 Rossmann-like_a/b/a_fold
IPR009080 tRNAsynth_Ia_anticodon-bd
IPR009008 Val/Leu/Ile-tRNA-synth_edit
IPR002303 Valyl-tRNA_ligase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08264 Anticodon_1, 1 hit
PF00133 tRNA-synt_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00986 TRNASYNTHVAL

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47323 SSF47323, 1 hit
SSF50677 SSF50677, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00422 valS, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5ST30-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPHLPLASFR PPFWGLRHSR GLPRFHSVST QSEPHGSPIS RRNREAKQKR
60 70 80 90 100
LREKQATLEA EIAGESKSPA ESIKAWRPKE LVLYEIPTKP GEKKDVSGPL
110 120 130 140 150
PPAYSPRYVE AAWYPWWVRE GFFKPEYQAR LPQATGETFS MCIPPPNVTG
160 170 180 190 200
SLHIGHALTV AIQDALVRWH RMRGDQVLWV PGSDHAGIAT QAVVEKQLWK
210 220 230 240 250
ERGVRRHELS REAFLREVWQ WKEAKGGEIC EQLRALGASL DWDRECFTMD
260 270 280 290 300
VGSSVAVTEA FVRLYKAGLL YRNHQLVNWS CALRSAISDI EVENRPLPGH
310 320 330 340 350
TQLRLPGCPT PVSFGLLFSV AFPVDGEPDA EVVVGTTRPE TLPGDVAVAV
360 370 380 390 400
HPDDSRYTHL HGRQLRHPLM GQPLPLITDY AVQPHVGTGA VKVTPAHSPA
410 420 430 440 450
DAEMGARHGL SPLNVIAEDG TMTSLCGDWL QGLHRFVARE KIMSVLSEWG
460 470 480 490 500
LFRGLQNHPM VLPICSRSGD VIEYLLKNQW FVRCQEMGAR AAKAVESGAL
510 520 530 540 550
ELSPSFHQKN WQHWFSHIGD WCVSRQLWWG HQIPAYLVVE DHAQGEEDCW
560 570 580 590 600
VVGRSEAEAR EVAAELTGRP GAELTLERDP DVLDTWFSSA LFPFSALGWP
610 620 630 640 650
QETPDLARFY PLSLLETGSD LLLFWVGRMV MLGTQLTGQL PFSKVLLHPM
660 670 680 690 700
VRDRQGRKMS KSLGNVLDPR DIISGVEMQV LQEKLRSGNL DPAELAIVAA
710 720 730 740 750
AQKKDFPHGI PECGTDALRF TLCSHGVQAG DLHLSVSEVQ SCRHFCNKIW
760 770 780 790 800
NALRFILNAL GEKFVPQPAE ELSPSSPMDA WILSRLALAA QECERGFLTR
810 820 830 840 850
ELSLVTHALH HFWLHNLCDV YLEAVKPVLW HSPRPLGPPQ VLFSCADLGL
860 870 880 890 900
RLLAPLMPFL AEELWQRLPP RPGCPPAPSI SVAPYPSACS LEHWRQPELE
910 920 930 940 950
RRFSRVQEVV QVLRALRATY QLTKARPRVL LQSSEPGDQG LFEAFLEPLG
960 970 980 990 1000
TLGYCGAVGL LPPGAAAPSG WAQAPLSDTA QVYMELQGLV DPQIQLPLLA
1010 1020 1030 1040 1050
ARRYKLQKQL DSLTARTPSE GEAGTQRQQK LSSLQLELSK LDKAASHLRQ
1060
LMDEPPAPGS PEL
Length:1,063
Mass (Da):118,490
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0212C6361A87DF8B
GO
Isoform 2 (identifier: Q5ST30-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-644: MPHLPLASFR...QLTGQLPFSK → MVFFCPVPLF...PPLLTPPCPQ

Note: No experimental confirmation available.
Show »
Length:501
Mass (Da):55,078
Checksum:i6F274961A95460AF
GO
Isoform 3 (identifier: Q5ST30-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-140: Missing.

Note: No experimental confirmation available.
Show »
Length:923
Mass (Da):102,416
Checksum:i2949E6A77692F99D
GO
Isoform 4 (identifier: Q5ST30-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGGKAWPRRAVGTAGGPCAEQISAPFQTLLM

Note: No experimental confirmation available.
Show »
Length:1,093
Mass (Da):121,543
Checksum:i6CE3ECF0345D3D78
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4E0K6B4E0K6_HUMAN
Valine--tRNA ligase, mitochondrial
VARS2
1,063Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JIA5A0A0G2JIA5_HUMAN
Valine--tRNA ligase, mitochondrial
VARS2
1,063Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A140T8Y0A0A140T8Y0_HUMAN
Valine--tRNA ligase, mitochondrial
VARS2
1,063Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZCJ6B7ZCJ6_HUMAN
Valine--tRNA ligase, mitochondrial
VARS2
326Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A2ABL6A2ABL6_HUMAN
Valine--tRNA ligase, mitochondrial
VARS2
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15191 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB67778 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAD92716 differs from that shown. The sequence differs from that shown because it seems to be derived from a pre-mRNA.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti25F → S in BAG65557 (PubMed:14702039).Curated1
Sequence conflicti156H → R in BAG57195 (PubMed:14702039).Curated1
Sequence conflicti985E → G in BAB15191 (PubMed:14702039).Curated1
Sequence conflicti1060S → G in BAG65557 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05265126H → Y. Corresponds to variant dbSNP:rs6926224EnsemblClinVar.1
Natural variantiVAR_04373064G → R. Corresponds to variant dbSNP:rs6926723EnsemblClinVar.1
Natural variantiVAR_071850337T → I in COXPD20; decreased levels of the protein. 1 PublicationCorresponds to variant dbSNP:rs587777585EnsemblClinVar.1
Natural variantiVAR_071851349A → T in COXPD20. 1 PublicationCorresponds to variant dbSNP:rs587777583EnsemblClinVar.1
Natural variantiVAR_043731449W → R4 PublicationsCorresponds to variant dbSNP:rs2249464EnsemblClinVar.1
Natural variantiVAR_071852596A → D in COXPD20. 1 PublicationCorresponds to variant dbSNP:rs587777584EnsemblClinVar.1
Natural variantiVAR_043732680V → L4 PublicationsCorresponds to variant dbSNP:rs2074506EnsemblClinVar.1
Natural variantiVAR_061910765V → M. Corresponds to variant dbSNP:rs55865499EnsemblClinVar.1
Natural variantiVAR_043733917R → Q3 PublicationsCorresponds to variant dbSNP:rs9394021EnsemblClinVar.1
Natural variantiVAR_043734965A → T5 PublicationsCorresponds to variant dbSNP:rs2252863EnsemblClinVar.1
Natural variantiVAR_0437351049R → Q3 PublicationsCorresponds to variant dbSNP:rs4678EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0340321 – 644MPHLP…LPFSK → MVFFCPVPLFCPGLAPRDPR PCSFLPPVTFGNGQRPSAVL GGPHGHVGDPAHRAAALQQV WRPEIPRHLQGNPPLLTPPC PQ in isoform 2. 1 PublicationAdd BLAST644
Alternative sequenceiVSP_0454831 – 140Missing in isoform 3. 1 PublicationAdd BLAST140
Alternative sequenceiVSP_0461021M → MGGKAWPRRAVGTAGGPCAE QISAPFQTLLM in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
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 No translation available.
AL669830 Genomic DNA No translation available.
AL773541 Genomic DNA No translation available.
BX927194 Genomic DNA No translation available.
CR759747 Genomic DNA No translation available.
CR936875 Genomic DNA No translation available.
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34387.1 [Q5ST30-1]
CCDS54980.1 [Q5ST30-4]
CCDS54981.1 [Q5ST30-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001161205.1, NM_001167733.2 [Q5ST30-3]
NP_001161206.1, NM_001167734.1 [Q5ST30-4]
NP_065175.4, NM_020442.5 [Q5ST30-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000321897; ENSP00000316092; ENSG00000137411 [Q5ST30-1]
ENST00000415079; ENSP00000400867; ENSG00000223494 [Q5ST30-1]
ENST00000541562; ENSP00000441000; ENSG00000137411 [Q5ST30-4]
ENST00000625423; ENSP00000485818; ENSG00000137411 [Q5ST30-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57176

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57176

UCSC genome browser

More...
UCSCi
uc003nsc.3 human [Q5ST30-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 No translation available.
AL669830 Genomic DNA No translation available.
AL773541 Genomic DNA No translation available.
BX927194 Genomic DNA No translation available.
CR759747 Genomic DNA No translation available.
CR936875 Genomic DNA No translation available.
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
CCDSiCCDS34387.1 [Q5ST30-1]
CCDS54980.1 [Q5ST30-4]
CCDS54981.1 [Q5ST30-3]
RefSeqiNP_001161205.1, NM_001167733.2 [Q5ST30-3]
NP_001161206.1, NM_001167734.1 [Q5ST30-4]
NP_065175.4, NM_020442.5 [Q5ST30-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121426, 18 interactors
IntActiQ5ST30, 16 interactors
MINTiQ5ST30
STRINGi9606.ENSP00000441000

PTM databases

iPTMnetiQ5ST30
PhosphoSitePlusiQ5ST30

Polymorphism and mutation databases

BioMutaiVARS2
DMDMi296452917

Proteomic databases

EPDiQ5ST30
jPOSTiQ5ST30
MassIVEiQ5ST30
MaxQBiQ5ST30
PaxDbiQ5ST30
PeptideAtlasiQ5ST30
PRIDEiQ5ST30
ProteomicsDBi24437
26145
63892 [Q5ST30-1]
63893 [Q5ST30-2]

Genome annotation databases

EnsembliENST00000321897; ENSP00000316092; ENSG00000137411 [Q5ST30-1]
ENST00000415079; ENSP00000400867; ENSG00000223494 [Q5ST30-1]
ENST00000541562; ENSP00000441000; ENSG00000137411 [Q5ST30-4]
ENST00000625423; ENSP00000485818; ENSG00000137411 [Q5ST30-3]
GeneIDi57176
KEGGihsa:57176
UCSCiuc003nsc.3 human [Q5ST30-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57176
DisGeNETi57176

GeneCards: human genes, protein and diseases

More...
GeneCardsi
VARS2
HGNCiHGNC:21642 VARS2
HPAiHPA062449
HPA070267
MalaCardsiVARS2
MIMi612802 gene
615917 phenotype
neXtProtiNX_Q5ST30
OpenTargetsiENSG00000137411
Orphaneti420728 Combined oxidative phosphorylation defect type 20
PharmGKBiPA164742816

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0432 Eukaryota
COG0525 LUCA
GeneTreeiENSGT00940000159890
InParanoidiQ5ST30
KOiK01873
OMAiRQWYIRN
OrthoDBi229591at2759
PhylomeDBiQ5ST30
TreeFamiTF354250

Enzyme and pathway databases

ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
VARS2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57176
PharosiQ5ST30

Protein Ontology

More...
PROi
PR:Q5ST30

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000137411 Expressed in 198 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ5ST30 baseline and differential
GenevisibleiQ5ST30 HS

Family and domain databases

CDDicd07962 Anticodon_Ia_Val, 1 hit
Gene3Di3.40.50.620, 2 hits
3.90.740.10, 2 hits
InterProiView protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR002300 aa-tRNA-synth_Ia
IPR033705 Anticodon_Ia_Val
IPR013155 M/V/L/I-tRNA-synth_anticd-bd
IPR014729 Rossmann-like_a/b/a_fold
IPR009080 tRNAsynth_Ia_anticodon-bd
IPR009008 Val/Leu/Ile-tRNA-synth_edit
IPR002303 Valyl-tRNA_ligase
PfamiView protein in Pfam
PF08264 Anticodon_1, 1 hit
PF00133 tRNA-synt_1, 1 hit
PRINTSiPR00986 TRNASYNTHVAL
SUPFAMiSSF47323 SSF47323, 1 hit
SSF50677 SSF50677, 1 hit
TIGRFAMsiTIGR00422 valS, 1 hit
PROSITEiView protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYVM_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5ST30
Secondary accession number(s): A2ABL7
, B4DET4, B4E3P5, F5GXJ0, F5H323, Q2M2A0, Q59FI1, Q5SQ96, Q5SS98, Q6DKJ5, Q6ZV24, Q96GN2, Q96H77, Q96Q02, Q9H6R2, Q9UFH7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: May 18, 2010
Last modified: November 13, 2019
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again