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FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 10667, updated on 8-May-2016
Official Symbol
FARS2provided by HGNC
Official Full Name
phenylalanyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:21062
See related
Ensembl:ENSG00000145982 HPRD:09946; MIM:611592; Vega:OTTHUMG00000014178
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FARS1; PheRS; COXPD14; HSPC320
Summary
This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Orthologs
Location:
6p25.1
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (5261018..5771583)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (5261251..5771816)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LYRM4 antisense RNA 1 Neighboring gene LYR motif containing 4 Neighboring gene protein phosphatase 1 regulatory subunit 3G Neighboring gene microRNA 3691 Neighboring gene uncharacterized LOC101927972 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 37 Neighboring gene uncharacterized LOC101927950 Neighboring gene ribosomal protein L34 pseudogene 16 Neighboring gene pyruvate kinase, muscle pseudogene 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 14
MedGen: C3554168 OMIM: 614946 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
NHGRI GWA Catalog
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
phenylalanine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
phenylalanine-tRNA ligase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
phenylalanyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
tRNA processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
phenylalanine--tRNA ligase, mitochondrial
Names
dJ236A3.1 (phenylalanine-tRNA synthetase)
dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase))
mitochondrial PHERS
phenylalanine tRNA ligase 2, mitochondrial
phenylalanine translase
phenylalanine-tRNA synthetase 1 (mitochondrial)
NP_006558.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033003.1 RefSeqGene

    Range
    4976..515242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318872.1NP_001305801.1  phenylalanine--tRNA ligase, mitochondrial

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK312454, AL590868, CA432122, DA134696
    UniProtKB/Swiss-Prot
    O95363
    Conserved Domains (3) summary
    smart00896
    Location:358450
    FDX-ACB; Ferredoxin-fold anticodon binding domain
    PLN02788
    Location:29450
    PLN02788; phenylalanine-tRNA synthetase
    cd00496
    Location:84338
    PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
  2. NM_006567.4NP_006558.1  phenylalanine--tRNA ligase, mitochondrial

    See identical proteins and their annotated locations for NP_006558.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF097441, AL121978, BC020239, CA432122, DA516347
    Consensus CDS
    CCDS4494.1
    UniProtKB/Swiss-Prot
    O95363
    Related
    ENSP00000274680, OTTHUMP00000015986, ENST00000274680, OTTHUMT00000039746
    Conserved Domains (3) summary
    smart00896
    Location:358450
    FDX-ACB; Ferredoxin-fold anticodon binding domain
    PLN02788
    Location:29450
    PLN02788; phenylalanine-tRNA synthetase
    cd00496
    Location:84338
    PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    5261018..5771583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248811.1XP_005248868.1  

    Related
    ENSP00000316335, OTTHUMP00000272315, ENST00000324331, OTTHUMT00000467790
    Conserved Domains (3) summary
    smart00896
    Location:358450
    FDX-ACB; Ferredoxin-fold anticodon binding domain
    PLN02788
    Location:29450
    PLN02788; phenylalanine-tRNA synthetase
    cd00496
    Location:84338
    PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
  2. XM_005248812.2XP_005248869.1  

    See identical proteins and their annotated locations for XP_005248869.1

    UniProtKB/Swiss-Prot
    O95363
    Conserved Domains (3) summary
    smart00896
    Location:358450
    FDX-ACB; Ferredoxin-fold anticodon binding domain
    PLN02788
    Location:29450
    PLN02788; phenylalanine-tRNA synthetase
    cd00496
    Location:84338
    PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
  3. XM_011514248.1XP_011512550.1  

    Conserved Domains (2) summary
    smart00896
    Location:358408
    FDX-ACB; Ferredoxin-fold anticodon binding domain
    cd00496
    Location:84338
    PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
  4. XM_011514249.1XP_011512551.1  

    Conserved Domains (2) summary
    smart00896
    Location:358404
    FDX-ACB; Ferredoxin-fold anticodon binding domain
    cd00496
    Location:84338
    PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
  5. XM_011514247.1XP_011512549.1  

    Conserved Domains (2) summary
    smart00896
    Location:358404
    FDX-ACB; Ferredoxin-fold anticodon binding domain
    cd00496
    Location:84338
    PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
  6. XM_011514251.1XP_011512553.1  

    Conserved Domains (1) summary
    cl00268
    Location:84302
    class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...
  7. XM_011514250.1XP_011512552.1  

    Conserved Domains (1) summary
    cl00268
    Location:84302
    class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...
  8. XM_006714966.1XP_006715029.1  

    Conserved Domains (1) summary
    cl00268
    Location:84303
    class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...

RNA

  1. XR_926026.1 RNA Sequence

  2. XR_926028.1 RNA Sequence

  3. XR_926027.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    5264226..5774754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)