Q5JTZ9 · SYAM_HUMAN
- ProteinAlanine--tRNA ligase, mitochondrial
- GeneAARS2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids985 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.
Catalytic activity
- ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala)
Cofactor
Note: Binds 1 zinc ion per subunit.
Features
Showing features for binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 110 | ATP (UniProtKB | ChEBI) | ||||
Sequence: R | ||||||
Binding site | 128 | ATP (UniProtKB | ChEBI) | ||||
Sequence: H | ||||||
Binding site | 210 | ATP (UniProtKB | ChEBI) | ||||
Sequence: W | ||||||
Binding site | 240-242 | ATP (UniProtKB | ChEBI) | ||||
Sequence: LWN | ||||||
Binding site | 242 | L-alanine (UniProtKB | ChEBI) | ||||
Sequence: N | ||||||
Binding site | 265 | L-alanine (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 269 | ATP (UniProtKB | ChEBI) | ||||
Sequence: G | ||||||
Binding site | 632 | Zn2+ (UniProtKB | ChEBI) | ||||
Sequence: H | ||||||
Binding site | 636 | Zn2+ (UniProtKB | ChEBI) | ||||
Sequence: H | ||||||
Binding site | 749 | Zn2+ (UniProtKB | ChEBI) | ||||
Sequence: C | ||||||
Binding site | 753 | Zn2+ (UniProtKB | ChEBI) | ||||
Sequence: H |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrion | |
Molecular Function | alanine-tRNA ligase activity | |
Molecular Function | aminoacyl-tRNA editing activity | |
Molecular Function | ATP binding | |
Molecular Function | tRNA binding | |
Molecular Function | zinc ion binding | |
Biological Process | alanyl-tRNA aminoacylation | |
Biological Process | mitochondrial alanyl-tRNA aminoacylation |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameAlanine--tRNA ligase, mitochondrial
- 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 accessionQ5JTZ9
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Combined oxidative phosphorylation deficiency 8 (COXPD8)
- Note
- DescriptionA mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected.
- See alsoMIM:614096
Natural variants in COXPD8
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065956 | 155 | L>R | in COXPD8; dbSNP:rs387907061 | |
VAR_065957 | 592 | R>W | in COXPD8; dbSNP:rs138119149 |
Leukoencephalopathy, progressive, with ovarian failure (LKENP)
- Note
- DescriptionAn autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure.
- See alsoMIM:615889
Natural variants in LKENP
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_071837 | 50 | F>C | in LKENP; deleterious only under stress conditions; dbSNP:rs587777590 | |
VAR_071841 | 405 | E>K | in LKENP; dbSNP:rs587777592 | |
VAR_071843 | 965 | G>R | in LKENP; dbSNP:rs543267101 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_071837 | 50 | in LKENP; deleterious only under stress conditions; dbSNP:rs587777590 | |||
Sequence: F → C | ||||||
Natural variant | VAR_071838 | 77 | found in patient with leukoencephalopathy; uncertain significance; dbSNP:rs375949891 | |||
Sequence: A → V | ||||||
Natural variant | VAR_088475 | 106 | found in a patient with an aminoacyl-tRNA synthetase abnormality; uncertain significance | |||
Sequence: Q → H | ||||||
Natural variant | VAR_071839 | 131 | found in patient with leukoencephalopathy; uncertain significance | |||
Sequence: Missing | ||||||
Natural variant | VAR_065956 | 155 | in COXPD8; dbSNP:rs387907061 | |||
Sequence: L → R | ||||||
Natural variant | VAR_071840 | 199 | found in patient with leukoencephalopathy; uncertain significance; dbSNP:rs200105202 | |||
Sequence: R → C | ||||||
Natural variant | VAR_088476 | 268 | found in a patient with an aminoacyl-tRNA synthetase abnormality; uncertain significance; dbSNP:rs1266991544 | |||
Sequence: M → I | ||||||
Natural variant | VAR_027609 | 339 | in dbSNP:rs324136 | |||
Sequence: I → V | ||||||
Natural variant | VAR_071841 | 405 | in LKENP; dbSNP:rs587777592 | |||
Sequence: E → K | ||||||
Natural variant | VAR_027610 | 484 | in dbSNP:rs495294 | |||
Sequence: A → D | ||||||
Natural variant | VAR_065957 | 592 | in COXPD8; dbSNP:rs138119149 | |||
Sequence: R → W | ||||||
Natural variant | VAR_071842 | 730 | in dbSNP:rs35623954 | |||
Sequence: V → M | ||||||
Natural variant | VAR_057357 | 850 | in dbSNP:rs35783144 | |||
Sequence: M → V | ||||||
Natural variant | VAR_071843 | 965 | in LKENP; dbSNP:rs543267101 | |||
Sequence: G → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,204 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 transit peptide, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Transit peptide | 1-23 | UniProt | Mitochondrion | ||||
Sequence: MAASVAAAARRLRRAIRRSPAWR | |||||||
Chain | PRO_0000250725 | 24-985 | UniProt | Alanine--tRNA ligase, mitochondrial | |||
Sequence: GLSHRPLSSEPPAAKASAVRAAFLNFFRDRHGHRLVPSASVRPRGDPSLLFVNAGMNQFKPIFLGTVDPRSEMAGFRRVANSQKCVRAGGHHNDLEDVGRDLSHHTFFEMLGNWAFGGEYFKEEACNMAWELLTQVYGIPEERLWISYFDGDPKAGLDPDLETRDIWLSLGVPASRVLSFGPQENFWEMGDTGPCGPCTEIHYDLAGGVGAPQLVELWNLVFMQHNREADGSLQPLPQRHVDTGMGLERLVAVLQGKHSTYDTDLFSPLLNAIQQGCRAPPYLGRVGVADEGRTDTAYRVVADHIRTLSVCISDGIFPGMSGPPLVLRRILRRAVRFSMEILKAPPGFLGSLVPVVVETLGDAYPELQRNSAQIANLVSEDEAAFLASLERGRRIIDRTLRTLGPSDMFPAEVAWSLSLCGDLGLPLDMVELMLEEKGVQLDSAGLERLAQEEAQHRARQAEPVQKQGLWLDVHALGELQRQGVPPTDDSPKYNYSLRPSGSYEFGTCEAQVLQLYTEDGTAVASVGKGQRCGLLLDRTNFYAEQGGQASDRGYLVRAGQEDVLFPVARAQVCGGFILHEAVAPECLRLGDQVQLHVDEAWRLGCMAKHTATHLLNWALRQTLGPGTEQQGSHLNPEQLRLDVTTQTPLTPEQLRAVENTVQEAVGQDEAVYMEEVPLALTAQVPGLRSLDEVYPDPVRVVSVGVPVAHALDPASQAALQTSVELCCGTHLLRTGAVGDLVIIGDRQLSKGTTRLLAVTGEQAQQARELGQSLAQEVKAATERLSLGSRDVAEALRLSKDIGRLIEAVETAVMPQWQRRELLATVKMLQRRANTAIRKLQMGQAAKKTQELLERHSKGPLIVDTVSAESLSVLVKVVRQLCEQAPSTSVLLLSPQPMGKVLCACQVAQGAMPTFTAEAWALAVCSHMGGKAWGSRVVAQGTGSTTDLEAALSIAQTYALSQL | |||||||
Modified residue (large scale data) | 673 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Proteomic databases
PTM databases
Interaction
Subunit
Monomer.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q5JTZ9 | EHHADH Q08426 | 3 | EBI-308736, EBI-2339219 | |
BINARY | Q5JTZ9 | PTPA Q15257-2 | 3 | EBI-308736, EBI-12164121 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Domain
Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs.
Sequence similarities
Belongs to the class-II aminoacyl-tRNA synthetase family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length985
- Mass (Da)107,340
- Last updated2005-02-15 v1
- Checksum721368BD05474F86
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB033096 EMBL· GenBank· DDBJ | BAA86584.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AL353588 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC013593 EMBL· GenBank· DDBJ | AAH13593.1 EMBL· GenBank· DDBJ | mRNA | ||
BC033169 EMBL· GenBank· DDBJ | AAH33169.1 EMBL· GenBank· DDBJ | mRNA | ||
BC131728 EMBL· GenBank· DDBJ | AAI31729.1 EMBL· GenBank· DDBJ | mRNA |