| Type | Description |
|---|---|
| Definition | alanyl-tRNA synthetase |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:24:00 | Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy. | 32314272 |
| 2019-10-12 11:35:00 | we investigated the effects of the severe infantile-onset cardiomyopathy-associated R592W mutation of hmtAlaRS on the canonical enzymatic activities of hmtAlaRS. Overall, our results provide fundamental information about tRNA recognition and deepen our understanding of translational quality control mechanisms by hmtAlaRS. | 30952159 |
| 2019-05-18 12:11:00 | all three mutations caused a pathological phenotype of neural abnormalities when expressed in zebrafish, while expression of the human wild-type messenger RNA (mRNA) did not. Our data indicate that not only functional null or hypomorphic alleles, but also hypermorphic AARS alleles can cause dominantly inherited axonal Charcot-Marie-Tooth (CMT) disease . | 30124830 |
| 2018-04-07 11:40:00 | A large sequence divergence of the C-terminal domain (C-Ala) reshaped C-Ala in a way that changed the global architecture of alanyl-tRNA synthetase (AlaRS). This reshaping removed the role of C-Ala in prokaryotes for docking tRNA and instead repurposed it to form a dimer interface presenting a DNA-binding groove. | 27911835 |
| 2016-06-28 10:28:00 | Number of missense mutations in AARS expand the clinical spectrum and provide pheno-genotypic correlations in AARS-related neuropathies. | 26032230 |
| Type | IDs |
|---|---|
| Synonymous | CMT2N, EIEE29 |
| Gene |
UniProtKB-ID:
SYAC_HUMAN
UniprotKB:
P49588
UniParc:
UPI0001AE685B,
UPI0000169F0B
EMBL:
CH471241,
D32050,
AC012184,
BC011451,
AK222824,
AK299098
Ensembl:
ENSG00000090861
KO:
hsa:16
|
| Nucleutide sequences |
EMBL-CDS:
BAD96544.1,
AAH11451.1,
EAW51839.1,
BAG61157.1,
BAA06808.1
Ensembl_TRS:
ENST00000261772
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261772
RefSeq:
NP_001596.2
|
| Others |
UniRef100:
UniRef100_P49588
UniRef90:
UniRef90_P49588
UniRef50:
UniRef50_P49588
UniGene:
Hs.315137
CCDS:
CCDS32474.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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