• Gene id: 57505

Gene Summary

• Gene Symbol: AARS2   Gene   UCSC   Ensembl
• Aliases: AARSL, COXPD8, LKENP, MT-ALARS, MTALARS
• Gene name: alanyl-tRNA synthetase 2, mitochondrial
• Alternate names: alanine--tRNA ligase, mitochondrial, alanine tRNA ligase 2, mitochondrial (putative), alanyl-tRNA synthetase 2, mitochondrial (putative), alanyl-tRNA synthetase like, probable alanyl-tRNA synthetase, mitochondrial,
• Gene location: 6p21.1 (44313357: 44297849)     Exons: 23     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme t
• OMIM: 612035

Protein Summary

• Protein general information: Q5JTZ9  
  • Name: Alanine tRNA ligase, mitochondrial (EC 6.1.1.7) (Alanyl tRNA synthetase) (AlaRS)
  • Length: 985  
  • Mass: 107340
• Sequence:

  MAASVAAAARRLRRAIRRSPAWRGLSHRPLSSEPPAAKASAVRAAFLNFFRDRHGHRLVPSASVRPRGDPSLLFV
  NAGMNQFKPIFLGTVDPRSEMAGFRRVANSQKCVRAGGHHNDLEDVGRDLSHHTFFEMLGNWAFGGEYFKEEACN
  MAWELLTQVYGIPEERLWISYFDGDPKAGLDPDLETRDIWLSLGVPASRVLSFGPQENFWEMGDTGPCGPCTEIH
  YDLAGGVGAPQLVELWNLVFMQHNREADGSLQPLPQRHVDTGMGLERLVAVLQGKHSTYDTDLFSPLLNAIQQGC
  RAPPYLGRVGVADEGRTDTAYRVVADHIRTLSVCISDGIFPGMSGPPLVLRRILRRAVRFSMEILKAPPGFLGSL
  VPVVVETLGDAYPELQRNSAQIANLVSEDEAAFLASLERGRRIIDRTLRTLGPSDMFPAEVAWSLSLCGDLGLPL
  DMVELMLEEKGVQLDSAGLERLAQEEAQHRARQAEPVQKQGLWLDVHALGELQRQGVPPTDDSPKYNYSLRPSGS
  YEFGTCEAQVLQLYTEDGTAVASVGKGQRCGLLLDRTNFYAEQGGQASDRGYLVRAGQEDVLFPVARAQVCGGFI
  LHEAVAPECLRLGDQVQLHVDEAWRLGCMAKHTATHLLNWALRQTLGPGTEQQGSHLNPEQLRLDVTTQTPLTPE
  QLRAVENTVQEAVGQDEAVYMEEVPLALTAQVPGLRSLDEVYPDPVRVVSVGVPVAHALDPASQAALQTSVELCC
  GTHLLRTGAVGDLVIIGDRQLSKGTTRLLAVTGEQAQQARELGQSLAQEVKAATERLSLGSRDVAEALRLSKDIG
  RLIEAVETAVMPQWQRRELLATVKMLQRRANTAIRKLQMGQAAKKTQELLERHSKGPLIVDTVSAESLSVLVKVV
  RQLCEQAPSTSVLLLSPQPMGKVLCACQVAQGAMPTFTAEAWALAVCSHMGGKAWGSRVVAQGTGSTTDLEAALS
  IAQTYALSQL

• Structural information:
  • Interpro: IPR002318  IPR018162  IPR018165  IPR018164  IPR023033   IPR018163  IPR009000  IPR012947  
  • Prosite: PS50860
  • PDB: 6NLQ 6NLY 6NOW
  • PDBsum: 6NLQ 6NLY 6NOW
  • STRING: ENSP00000244571
• Other Databases: GeneCards:  AARS2  Malacards:  AARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070143	mitochondrial alanyl-tRNA aminoacylation	IBA	biological process
GO:0016597	amino acid binding	IBA	molecular function
GO:0004813	alanine-tRNA ligase activity	IBA	molecular function
GO:0002161	aminoacyl-tRNA editing activity	IBA	molecular function
GO:0000049	tRNA binding	IBA	molecular function
GO:0006419	alanyl-tRNA aminoacylation	IBA	biological process
GO:0006400	tRNA modification	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005524	ATP binding	IBA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004813	alanine-tRNA ligase activity	IEA	molecular function
GO:0043039	tRNA aminoacylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006419	alanyl-tRNA aminoacylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0004813	alanine-tRNA ligase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004813	alanine-tRNA ligase activity	IMP	molecular function
GO:0070143	mitochondrial alanyl-tRNA aminoacylation	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004813	alanine-tRNA ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Leukoencephalopathy, progressive, with ovarian failure	KEGG:H02200
Combined oxidative phosphorylation deficiency	KEGG:H00891
Leukoencephalopathy, progressive, with ovarian failure	KEGG:H02200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)