| Type | Description |
|---|---|
| Definition | phenylalanyl-tRNA synthetase subunit beta |
| Date | Results | Publications |
|---|---|---|
| 2020-09-05 13:52:00 | FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects. | 31355908 |
| 2019-08-17 11:34:00 | This study further implicates FARSB mutations in a multisystem, recessive, neurodevelopmental phenotype that share clinical features with the previously known aminoacyl-tRNA synthetase-related diseases. | 30014610 |
| 2019-06-01 12:00:00 | Expression studies using fibroblasts isolated from the proband revealed a severe depletion of both FARSB and FARSA protein levels. These data indicate that the FARSB variants destabilize total phenylalanyl-tRNA synthetase levels, thus causing a loss-of-function effect. | 29573043 |
| 2012-03-03 11:15:00 | Human PheRS recognizes C74, the G1-C72 base pair, and the "discriminator" base A73, proposed to contribute to tRNA(Phe) identity in the yeast mitochondrial enzyme. | 22137894 |
| 2010-07-12 11:39:00 | Structure of human cytosolic phenylalanyl-tRNA synthetase: evidence for kingdom-specific design of the active sites and tRNA binding patterns | 20223217 |
| Type | IDs |
|---|---|
| Synonymous | FARSLB, FRSB, HSPC173, NEDBLLA, PheHB, PheRS, RILDBC |
| Gene |
UniProtKB-ID:
SYFB_HUMAN
UniprotKB:
Q9NSD9
UniParc:
UPI0002065B7F,
UPI00002096AC
EMBL:
AC104772,
AC097461,
CH471063,
AF161521,
AF042346,
BC017783,
D84430,
AK294158
Ensembl:
ENSG00000116120
KO:
hsa:10056
|
| Nucleutide sequences |
EMBL-CDS:
AAD02220.1,
BAG57481.1,
AAX81986.1,
AAX88958.1,
BAA95608.1,
EAW70804.1,
AAH17783.1,
AAF29136.1
Gene_ORFName:
HSPC173
Ensembl_TRS:
ENST00000281828
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000281828
RefSeq:
NP_005678.3,
XP_024308260.1,
XP_006712232.1,
XP_011508768.1,
XP_016858599.1
|
| Others |
UniRef100:
UniRef100_Q9NSD9
UniRef90:
UniRef90_Q9NSD9
UniRef50:
UniRef50_Q9NSD9
UniGene:
Hs.471452
CCDS:
CCDS2454.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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