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Aliases for FARSB Gene

Aliases for FARSB Gene

  • Phenylalanyl-TRNA Synthetase Subunit Beta 2 3
  • Phenylalanyl-TRNA Synthetase Beta Subunit 3 4 5
  • Phenylalanyl-TRNA Synthetase-Like, Beta Subunit 2 3
  • Phenylalanine TRNA Ligase 1, Beta, Cytoplasmic 2 3
  • FARSLB 3 4
  • PheRS 3 4
  • FRSB 3 4
  • Phenylalanine-TRNA Synthetase-Like, Beta Subunit 3
  • Phenylalanine--TRNA Ligase Beta Subunit 3
  • Phenylalanyl-TRNA Synthetase Beta Chain 3
  • Phenylalanine-TRNA Ligase Beta Chain 3
  • EC 6.1.1.20 4
  • HSPC173 3
  • PheHB 3

External Ids for FARSB Gene

Previous HGNC Symbols for FARSB Gene

  • FARSLB

Previous GeneCards Identifiers for FARSB Gene

  • GC02M223144
  • GC02M223435
  • GC02M215289

Summaries for FARSB Gene

Entrez Gene Summary for FARSB 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]

GeneCards Summary for FARSB Gene

FARSB (Phenylalanyl-TRNA Synthetase Subunit Beta) is a Protein Coding gene. Diseases associated with FARSB include Neurodevelopmental Disorder With Brain, Liver, And Lung Abnormalities and Rigid Spine Muscular Dystrophy 1. Among its related pathways are tRNA Aminoacylation and Amino Acid metabolism. Gene Ontology (GO) annotations related to this gene include RNA binding and magnesium ion binding. An important paralog of this gene is LRRC47.

Gene Wiki entry for FARSB Gene

Additional gene information for FARSB Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FARSB Gene

Genomics for FARSB Gene

GeneHancer (GH) Regulatory Elements for FARSB Gene

Promoters and enhancers for FARSB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J222654 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 655.9 +0.5 547 3.4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 FARSB ENSG00000261428 LOC100420353 GC02P222642
GH02J222707 Enhancer 1.3 Ensembl ENCODE 10.6 -52.4 -52409 3.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 E2F8 ACSL3 MOGAT1 LOC105373904 FARSB RPL31P17 ENSG00000203531
GH02J222690 Enhancer 0.9 ENCODE 11.4 -34.4 -34432 0.2 MLX ARID4B ZNF2 IRF4 ZNF143 RUNX3 NFKBIZ RXRA MXD4 REST FARSB ACSL3 LOC105373904 ENSG00000203531 LOC100384885 GC02M222677 MOGAT1
GH02J222903 Enhancer 0.8 ENCODE 11.1 -248.4 -248366 2.2 FOXA2 ARID4B ZSCAN9 RAD21 YY1 ZNF143 FOS RUNX3 ZNF654 RXRA GC02M222904 ATG12P2 ACSL3 FARSB GC02M222847
GH02J222671 Promoter/Enhancer 1.4 Ensembl ENCODE 5.1 -15.6 -15580 1.1 ARID4B SIN3A DMAP1 ZNF48 YY1 NFKBIZ RXRA SP5 NFYC MXD4 MOGAT1 ENSG00000261428 FARSB GC02M222677 LOC100384885
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FARSB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FARSB gene promoter:
  • GATA-1
  • NF-1/L
  • NF-1
  • HOXA5
  • FOXJ2 (long isoform)
  • FOXJ2
  • POU2F1a
  • POU2F1
  • LUN-1
  • GCNF-2

Genomic Locations for FARSB Gene

Genomic Locations for FARSB Gene
chr2:222,570,536-222,656,355
(GRCh38/hg38)
Size:
85,820 bases
Orientation:
Minus strand
chr2:223,435,255-223,521,056
(GRCh37/hg19)
Size:
85,802 bases
Orientation:
Minus strand

Genomic View for FARSB Gene

Genes around FARSB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FARSB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FARSB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FARSB Gene

Proteins for FARSB Gene

  • Protein details for FARSB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSD9-SYFB_HUMAN
    Recommended name:
    Phenylalanine--tRNA ligase beta subunit
    Protein Accession:
    Q9NSD9
    Secondary Accessions:
    • B4DFM0
    • O95708
    • Q4ZFX1
    • Q57ZJ5
    • Q9NZZ6

    Protein attributes for FARSB Gene

    Size:
    589 amino acids
    Molecular mass:
    66116 Da
    Quaternary structure:
    • Heterotetramer; dimer of two heterodimers formed by FARSA and FARSB.

    Three dimensional structures from OCA and Proteopedia for FARSB Gene

    Alternative splice isoforms for FARSB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FARSB Gene

Post-translational modifications for FARSB Gene

  • Ubiquitination at Lys560, isoforms=2329, and Lys64
  • Modification sites at PhosphoSitePlus

Other Protein References for FARSB Gene

No data available for DME Specific Peptides for FARSB Gene

Domains & Families for FARSB Gene

Gene Families for FARSB Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9NSD9

UniProtKB/Swiss-Prot:

SYFB_HUMAN :
  • Belongs to the phenylalanyl-tRNA synthetase beta subunit family. Type 2 subfamily.
Family:
  • Belongs to the phenylalanyl-tRNA synthetase beta subunit family. Type 2 subfamily.
genes like me logo Genes that share domains with FARSB: view

Function for FARSB Gene

Molecular function for FARSB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe).

Enzyme Numbers (IUBMB) for FARSB Gene

Phenotypes From GWAS Catalog for FARSB Gene

Gene Ontology (GO) - Molecular Function for FARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003723 RNA binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004826 phenylalanine-tRNA ligase activity TAS,IDA 20223217
GO:0005515 protein binding IPI 20223217
genes like me logo Genes that share ontologies with FARSB: view
genes like me logo Genes that share phenotypes with FARSB: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FARSB Gene

Localization for FARSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for FARSB Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FARSB gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10049785
GO:0005829 cytosol TAS --
GO:0009328 phenylalanine-tRNA ligase complex IDA 20223217
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with FARSB: view

Pathways & Interactions for FARSB Gene

genes like me logo Genes that share pathways with FARSB: view

Pathways by source for FARSB Gene

1 BioSystems pathway for FARSB Gene
1 KEGG pathway for FARSB Gene

Gene Ontology (GO) - Biological Process for FARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS 10049785
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006432 phenylalanyl-tRNA aminoacylation IDA 20223217
GO:0051290 protein heterotetramerization IDA 20223217
genes like me logo Genes that share ontologies with FARSB: view

No data available for SIGNOR curated interactions for FARSB Gene

Drugs & Compounds for FARSB Gene

(5) Drugs for FARSB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Phenylalanine Approved, Investigational Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(4) Additional Compounds for FARSB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with FARSB: view

Transcripts for FARSB Gene

mRNA/cDNA for FARSB Gene

Unigene Clusters for FARSB Gene

Phenylalanyl-tRNA synthetase, beta subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FARSB Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: -
SP3: -
SP4:

Relevant External Links for FARSB Gene

GeneLoc Exon Structure for
FARSB
ECgene alternative splicing isoforms for
FARSB

Expression for FARSB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FARSB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FARSB Gene

This gene is overexpressed in Breast (7.1) and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FARSB Gene



Protein tissue co-expression partners for FARSB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FARSB Gene:

FARSB

SOURCE GeneReport for Unigene cluster for FARSB Gene:

Hs.471452

Evidence on tissue expression from TISSUES for FARSB Gene

  • Nervous system(4.9)
  • Blood(4.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with FARSB: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FARSB Gene

Orthologs for FARSB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FARSB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FARSB 34 33
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 95 (a)
OneToMany
FARSB 33
  • 92.64 (n)
-- 34
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia FARSB 34 33
  • 90.21 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Farsb 33
  • 87.72 (n)
mouse
(Mus musculus)
Mammalia Farsb 16 34 33
  • 87.27 (n)
oppossum
(Monodelphis domestica)
Mammalia FARSB 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves FARSB 34 33
  • 78.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FARSB 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia farsb 33
  • 72.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia frsb-prov 33
zebrafish
(Danio rerio)
Actinopterygii farsb 34 33
  • 69.9 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9004 33
fruit fly
(Drosophila melanogaster)
Insecta CG5706 34 33
  • 60.52 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003517 33
  • 59.73 (n)
worm
(Caenorhabditis elegans)
Secernentea fars-3 34 33
  • 59.98 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05137g 33
  • 54.67 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRS1 36 34 33
  • 54.2 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR219W 33
  • 53.39 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72550 33
  • 57.95 (n)
soybean
(Glycine max)
eudicotyledons Gma.2819 33
rice
(Oryza sativa)
Liliopsida Os05g0558900 33
  • 55.44 (n)
Os.5132 33
corn
(Zea mays)
Liliopsida Zm.12166 33
barley
(Hordeum vulgare)
Liliopsida Hv.8880 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2834 34
  • 57 (a)
OneToOne
Cin.1025 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes frs1 33
  • 53.57 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08888 33
  • 52.27 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1025 33
Species where no ortholog for FARSB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FARSB Gene

ENSEMBL:
Gene Tree for FARSB (if available)
TreeFam:
Gene Tree for FARSB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FARSB: view image

Paralogs for FARSB Gene

Paralogs for FARSB Gene

(1) SIMAP similar genes for FARSB Gene using alignment to 3 proteins:

  • SYFB_HUMAN
  • F5H6Y1_HUMAN
  • Q9BR63_HUMAN

Pseudogenes.org Pseudogenes for FARSB Gene

genes like me logo Genes that share paralogs with FARSB: view

Variants for FARSB Gene

Sequence variations from dbSNP and Humsavar for FARSB Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000038366 -- 222,621,918(-) C/T intron_variant
rs1000050669 -- 222,574,767(-) T/C intron_variant
rs1000089851 -- 222,639,138(-) C/G intron_variant
rs1000110225 -- 222,590,695(-) C/T intron_variant
rs1000129298 -- 222,649,819(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FARSB Gene

Variant ID Type Subtype PubMed ID
dgv20e197 CNV deletion 19546169
dgv2155n106 CNV deletion 24896259
esv1000228 CNV deletion 20482838
esv1232411 CNV deletion 17803354
esv2377277 CNV deletion 18987734
esv2585241 CNV deletion 19546169
esv2721518 CNV deletion 23290073
esv2721519 CNV deletion 23290073
esv3561050 CNV deletion 23714750
esv3594426 CNV loss 21293372
esv3729 CNV loss 18987735
esv5526 CNV loss 19470904
nsv1072071 CNV deletion 25765185
nsv1145735 CNV deletion 26484159
nsv834551 CNV gain+loss 17160897
nsv955033 CNV deletion 24416366
nsv963776 CNV duplication 23825009

Variation tolerance for FARSB Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FARSB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FARSB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FARSB Gene

Disorders for FARSB Gene

MalaCards: The human disease database

(2) MalaCards diseases for FARSB Gene - From: OMIM, ClinVar, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search FARSB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FARSB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FARSB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FARSB Gene

Publications for FARSB Gene

  1. Human phenylalanyl-tRNA synthetase: cloning, characterization of the deduced amino acid sequences in terms of the structural domains and coordinately regulated expression of the alpha and beta subunits in chronic myeloid leukemia cells. (PMID: 10049785) Rodova M … Safro MG (Biochemical and biophysical research communications 1999) 2 3 4 22 58
  2. Structure of human cytosolic phenylalanyl-tRNA synthetase: evidence for kingdom-specific design of the active sites and tRNA binding patterns. (PMID: 20223217) Finarov I … Safro MG (Structure (London, England : 1993) 2010) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Structural basis for discrimination of L-phenylalanine from L-tyrosine by phenylalanyl-tRNA synthetase. (PMID: 16338408) Kotik-Kogan O … Safro M (Structure (London, England : 1993) 2005) 22 25 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for FARSB Gene

Sources for FARSB Gene

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