FARSB
entrez
10056
canonical
uniprot
Q9NSD9
canonical
ensembl
ENSG00000116120
resolver
ensp
ENSP00000281828
resolver
genesymbol
FARSB
resolver
genesymbol_syn
FARSLB
resolver
genesymbol_syn
FRSB
resolver
hgnc
HGNC:17800
resolver
uniprot
B4DFM0
resolver
uniprot
O95708
resolver
uniprot
Q4ZFX1
resolver
uniprot
Q57ZJ5
resolver
uniprot
Q9NZZ6
resolver
uniprot_entry
SYFB_HUMAN
resolver
uniprot_sec
B4DFM0
resolver
uniprot_sec
O95708
resolver
uniprot_sec
Q4ZFX1
resolver
uniprot_sec
Q57ZJ5
resolver
uniprot_sec
Q9NZZ6
resolver
amino_acid_sequence
MPTVSVKRDLLFQALGRTYTDEEFDELCFEFGLELDEITSEKEIISKEQGNVKAAGASDVVLYKIDVPANRYDLLCLEGLVRGLQVFKERIKAPVYKRVMPDGKIQKLIITEETAKIRPFAVAAVLRNIKFTKDRYDSFIELQEKLHQNICRKRALVAIGTHDLDTLSGPFTYTAKRPSDIKFKPLNKTKEYTACELMNIYKTDNHLKHYLHIIENKPLYPVIYDSNGVVLSMPPIINGDHSRITVNTRNIFIECTGTDFTKAKIVLDIIVTMFSEYCENQFTVEAAEVVFPNGKSHTFPELAYRKEMVRADLINKKVGIRETPENLAKLLTRMYLKSEVIGDGNQIEIEIPPTRADIIHACDIVEDAAIAYGYNNIQMTLPKTYTIANQFPLNKLTELLRHDMAAAGFTEALTFALCSQEDIADKLGVDISATKAVHISNPKTAEFQVARTTLLPGLLKTIAANRKMPLPLKLFEISDIVIKDSNTDVGAKNYRHLCAVYYNKNPGFEIIHGLLDRIMQLLDVPPGEDKGGYVIKASEGPAFFPGRCAEIFARGQSVGKLGVLHPDVITKFELTMPCSSLEINVGPFL
uniprot
proteins
disease_involvement
DISEASE: Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658]: An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination. {ECO:0000269|PubMed:29573043, ECO:0000269|PubMed:29979980, ECO:0000269|PubMed:30014610}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.20
uniprot
proteins
mass_dalton
66116
uniprot
proteins
protein_family
Phenylalanyl-tRNA synthetase beta subunit family
uniprot
proteins
protein_family
Type 2 subfamily
uniprot
proteins
pubmed
10049785
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
20223217
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29573043
uniprot
proteins
pubmed
29979980
uniprot
proteins
pubmed
30014610
uniprot
proteins
sequence_length
589
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:29573043}.
uniprot
proteins