FARSB
Phenylalanine--tRNA ligase beta subunit
Also known as: FARSLB, FRSB, PheHB, SYFB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NSD9
- Gene
- FARSB
- Ensembl
- ENSG00000116120
- Chromosome
- 2
- Canonical length
- 589 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Canonical amino-acid sequenceUniProt
589 residues, UniProt reviewed canonical sequence.
>Q9NSD9|FARSB
1 MPTVSVKRDL LFQALGRTYT DEEFDELCFE FGLELDEITS EKEIISKEQG NVKAAGASDV
61 VLYKIDVPAN RYDLLCLEGL VRGLQVFKER IKAPVYKRVM PDGKIQKLII TEETAKIRPF
121 AVAAVLRNIK FTKDRYDSFI ELQEKLHQNI CRKRALVAIG THDLDTLSGP FTYTAKRPSD
181 IKFKPLNKTK EYTACELMNI YKTDNHLKHY LHIIENKPLY PVIYDSNGVV LSMPPIINGD
241 HSRITVNTRN IFIECTGTDF TKAKIVLDII VTMFSEYCEN QFTVEAAEVV FPNGKSHTFP
301 ELAYRKEMVR ADLINKKVGI RETPENLAKL LTRMYLKSEV IGDGNQIEIE IPPTRADIIH
361 ACDIVEDAAI AYGYNNIQMT LPKTYTIANQ FPLNKLTELL RHDMAAAGFT EALTFALCSQ
421 EDIADKLGVD ISATKAVHIS NPKTAEFQVA RTTLLPGLLK TIAANRKMPL PLKLFEISDI
481 VIKDSNTDVG AKNYRHLCAV YYNKNPGFEI IHGLLDRIMQ LLDVPPGEDK GGYVIKASEG
541 PAFFPGRCAE IFARGQSVGK LGVLHPDVIT KFELTMPCSS LEINVGPFLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FARSB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 16 nTPM
- tongue: 12 nTPM
- cerebral cortex: 11 nTPM
- hypothalamus: 11 nTPM
- rectum: 11 nTPM
- esophagus: 9.8 nTPM
Single-cell type
- oocytes: 203 nCPM
- erythrocyte progenitors: 110 nCPM
- late spermatids: 101 nCPM
- late primary spermatocytes: 101 nCPM
- esophageal basal cells: 87 nCPM
- epicardial cells: 86 nCPM
Immune cell
- NK-cell: 17 nTPM
- naive CD4 T-cell: 16 nTPM
- memory B-cell: 15 nTPM
- myeloid DC: 14 nTPM
- MAIT T-cell: 14 nTPM
- naive CD8 T-cell: 14 nTPM
Brain region
- pons: 17 nTPM
- hypothalamus: 17 nTPM
- cerebellum: 16 nTPM
- cerebral cortex: 15 nTPM
- basal ganglia: 15 nTPM
- medulla oblongata: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FARSB.
Disease | AllUniProt
Conditions FARSB is implicated in, by any mechanism.
- Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) MIM:613658
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 249 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Rajab interstitial lung disease with brain calcifications
- Rajab interstitial lung disease with brain calcifications 1
- Cerebral calcification
- Cirrhosis of liver
- Vascular dilatation
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.56
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.16
- DepMap mean gene effect
- -1.89
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- B3/B4 tRNA-binding domain
- Putative DNA-binding domain superfamily
- Phenylalanyl-tRNA synthetase-like, B3/B4
- Phenylalanine-tRNA ligase, class IIc, beta subunit
- Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
- Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archaeal/eukaryotic type
- tRNA synthetase, B5-domain
- Phenylalanine--tRNA ligase beta subunit, B1 domain
- Phenylalanyl tRNA synthetase beta chain, core domain
- B3/4 domain
- tRNA synthetase B5 domain
- Phenylalanyl tRNA synthetase beta chain CLM domain
- Phe-tRNA synthetase beta subunit B1 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FARSB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FARSB as an antibody target. Whether an autoantibody or antibody against FARSB could matter depends on whether native FARSB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FARSB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FARSB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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