P26640 · SYVC_HUMAN
- ProteinValine--tRNA ligase
- GeneVARS1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1264 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalytic activity
- ATP + L-valine + tRNA(Val) = AMP + diphosphate + L-valyl-tRNA(Val)This reaction proceeds in the forward direction.
Activity regulation
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Molecular Function | aminoacyl-tRNA editing activity | |
Molecular Function | ATP binding | |
Molecular Function | valine-tRNA ligase activity | |
Biological Process | tRNA aminoacylation for protein translation | |
Biological Process | valyl-tRNA aminoacylation |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameValine--tRNA ligase
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP26640
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA)
- Note
- DescriptionAn autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy.
- See alsoMIM:617802
Natural variants in NDMSCA
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080602 | 885 | L>F | in NDMSCA; uncertain significance; dbSNP:rs1060499734 | |
VAR_080603 | 1058 | R>Q | in NDMSCA; uncertain significance; dbSNP:rs769369302 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_052647 | 51 | in dbSNP:rs2607015 | |||
Sequence: P → R | ||||||
Natural variant | VAR_061909 | 51 | in dbSNP:rs2753960 | |||
Sequence: P → T | ||||||
Natural variant | VAR_052648 | 181 | in dbSNP:rs35196751 | |||
Sequence: R → C | ||||||
Natural variant | VAR_052649 | 626 | in dbSNP:rs11531 | |||
Sequence: P → S | ||||||
Natural variant | VAR_080602 | 885 | in NDMSCA; uncertain significance; dbSNP:rs1060499734 | |||
Sequence: L → F | ||||||
Natural variant | VAR_052650 | 1008 | in dbSNP:rs1076827 | |||
Sequence: P → L | ||||||
Natural variant | VAR_080603 | 1058 | in NDMSCA; uncertain significance; dbSNP:rs769369302 | |||
Sequence: R → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 2,180 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Modified residue | 2 | UniProt | N-acetylserine | ||||
Sequence: S | |||||||
Chain | PRO_0000106253 | 2-1264 | UniProt | Valine--tRNA ligase | |||
Sequence: STLYVSPHPDAFPSLRALIAARYGEAGEGPGWGGAHPRICLQPPPTSRTPFPPPRLPALEQGPGGLWVWGATAVAQLLWPAGLGGPGGSRAAVLVQQWVSYADTELIPAACGATLPALGLRSSAQDPQAVLGALGRALSPLEEWLRLHTYLAGEAPTLADLAAVTALLLPFRYVLDPPARRIWNNVTRWFVTCVRQPEFRAVLGEVVLYSGARPLSHQPGPEAPALPKTAAQLKKEAKKREKLEKFQQKQKIQQQQPPPGEKKPKPEKREKRDPGVITYDLPTPPGEKKDVSGPMPDSYSPRYVEAAWYPWWEQQGFFKPEYGRPNVSAANPRGVFMMCIPPPNVTGSLHLGHALTNAIQDSLTRWHRMRGETTLWNPGCDHAGIATQVVVEKKLWREQGLSRHQLGREAFLQEVWKWKEEKGDRIYHQLKKLGSSLDWDRACFTMDPKLSAAVTEAFVRLHEEGIIYRSTRLVNWSCTLNSAISDIEVDKKELTGRTLLSVPGYKEKVEFGVLVSFAYKVQGSDSDEEVVVATTRIETMLGDVAVAVHPKDTRYQHLKGKNVIHPFLSRSLPIVFDEFVDMDFGTGAVKITPAHDQNDYEVGQRHGLEAISIMDSRGALINVPPPFLGLPRFEARKAVLVALKERGLFRGIEDNPMVVPLCNRSKDVVEPLLRPQWYVRCGEMAQAASAAVTRGDLRILPEAHQRTWHAWMDNIREWCISRQLWWGHRIPAYFVTVSDPAVPPGEDPDGRYWVSGRNEAEAREKAAKEFGVSPDKISLQQDEDVLDTWFSSGLFPLSILGWPNQSEDLSVFYPGTLLETGHDILFFWVARMVMLGLKLTGRLPFREVYLHAIVRDAHGRKMSKSLGNVIDPLDVIYGISLQGLHNQLLNSNLDPSEVEKAKEGQKADFPAGIPECGTDALRFGLCAYMSQGRDINLDVNRILGYRHFCNKLWNATKFALRGLGKGFVPSPTSQPGGHESLVDRWIRSRLTEAVRLSNQGFQAYDFPAVTTAQYSFWLYELCDVYLECLKPVLNGVDQVAAECARQTLYTCLDVGLRLLSPFMPFVTEELFQRLPRRMPQAPPSLCVTPYPEPSECSWKDPEAEAALELALSITRAVRSLRADYNLTRIRPDCFLEVADEATGALASAVSGYVQALASAGVVAVLALGAPAPQGCAVALASDRCSIHLQLQGLVDPARELGKLQAKRVEAQRQAQRLRERRAASGYPVKVPLEVQEADEAKLQQTEAELRKVDEAIALFQKML | |||||||
Modified residue (large scale data) | 5 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 280 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 284 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 301 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 437 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 469 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 502 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 525 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 527 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 527 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 570 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 617 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 645 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 1227 | PRIDE | Phosphotyrosine | ||||
Sequence: Y |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P26640 | CALCOCO2 Q13137 | 3 | EBI-355765, EBI-739580 | |
BINARY | P26640 | CAMK2A Q9UQM7 | 3 | EBI-355765, EBI-1383687 | |
BINARY | P26640 | CAMK2B Q13554-3 | 3 | EBI-355765, EBI-11523526 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, region, compositional bias, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 89-219 | GST C-terminal | ||||
Sequence: GSRAAVLVQQWVSYADTELIPAACGATLPALGLRSSAQDPQAVLGALGRALSPLEEWLRLHTYLAGEAPTLADLAAVTALLLPFRYVLDPPARRIWNNVTRWFVTCVRQPEFRAVLGEVVLYSGARPLSHQ | ||||||
Region | 217-296 | Disordered | ||||
Sequence: SHQPGPEAPALPKTAAQLKKEAKKREKLEKFQQKQKIQQQQPPPGEKKPKPEKREKRDPGVITYDLPTPPGEKKDVSGPM | ||||||
Compositional bias | 233-249 | Basic and acidic residues | ||||
Sequence: QLKKEAKKREKLEKFQQ | ||||||
Compositional bias | 262-277 | Basic and acidic residues | ||||
Sequence: EKKPKPEKREKRDPGV | ||||||
Motif | 344-354 | 'HIGH' region | ||||
Sequence: PNVTGSLHLGH | ||||||
Motif | 862-866 | 'KMSKS' region | ||||
Sequence: KMSKS |
Sequence similarities
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
P26640-1
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.
- Name1
- Length1,264
- Mass (Da)140,476
- Last updated2000-12-01 v4
- Checksum95CCDDBB3AB148AD
P26640-2
- Name2
Computationally mapped potential isoform sequences
There are 6 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A2ABF4 | A2ABF4_HUMAN | VARS1 | 174 | ||
H0Y426 | H0Y426_HUMAN | VARS1 | 288 | ||
A0A140T936 | A0A140T936_HUMAN | VARS1 | 1183 | ||
A0A140T954 | A0A140T954_HUMAN | VARS1 | 366 | ||
A0A140T904 | A0A140T904_HUMAN | VARS1 | 95 | ||
A0A0G2JJT9 | A0A0G2JJT9_HUMAN | VARS1 | 174 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_056480 | 1-295 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 51 | in Ref. 1; CAA41990 and 7; AAH12808 | ||||
Sequence: P → S | ||||||
Compositional bias | 233-249 | Basic and acidic residues | ||||
Sequence: QLKKEAKKREKLEKFQQ | ||||||
Compositional bias | 262-277 | Basic and acidic residues | ||||
Sequence: EKKPKPEKREKRDPGV | ||||||
Sequence conflict | 331 | in Ref. 10; AAA81332 | ||||
Sequence: A → G | ||||||
Alternative sequence | VSP_056481 | 589-592 | in isoform 2 | |||
Sequence: AVKI → PAQV | ||||||
Sequence conflict | 590 | in Ref. 1; CAA41990 | ||||
Sequence: V → G | ||||||
Alternative sequence | VSP_056482 | 593-1264 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 792 | in Ref. 1; CAA41990 | ||||
Sequence: S → F | ||||||
Sequence conflict | 1064 | in Ref. 10; AAA81332 | ||||
Sequence: M → I | ||||||
Sequence conflict | 1169 | in Ref. 10; AAA81332 | ||||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X59303 EMBL· GenBank· DDBJ | CAA41990.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AF134726 EMBL· GenBank· DDBJ | AAD21819.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BA000025 EMBL· GenBank· DDBJ | BAB63303.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK302762 EMBL· GenBank· DDBJ | BAG63973.1 EMBL· GenBank· DDBJ | mRNA | ||
AL662834 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL662899 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL671762 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CR925765 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471081 EMBL· GenBank· DDBJ | EAX03523.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC012808 EMBL· GenBank· DDBJ | AAH12808.1 EMBL· GenBank· DDBJ | mRNA | ||
M98326 EMBL· GenBank· DDBJ | AAA81332.1 EMBL· GenBank· DDBJ | mRNA |