• Gene id: 16

Gene Summary

• Gene Symbol: AARS1   Gene   UCSC   Ensembl
• Aliases: AARS, CMT2N, EIEE29
• Gene name: alanyl-tRNA synthetase 1
• Alternate names: alanine--tRNA ligase, cytoplasmic, alaRS, alanine tRNA ligase 1, cytoplasmic, alanyl-tRNA synthetase, cytoplasmic, renal carcinoma antigen NY-REN-42,
• Gene location: 16q22.1 (55992546: 56005524)     Exons: 8     NC_000012.12
• Gene summary(Entrez): The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide hu
• OMIM: 601065

SNPs

rs886039769

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500686G>A
NC_000009.11   g.127262965G>A
NG_008176.1   g.11735C>T
NM_004959.5   c.274C>T
NM_004959.4   c.274C>T
NP_004950.2   p.Arg92Trp|SEQ=[G/A]|GENE=NR5A1

rs398123027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35943953G>A
NC_000006.11   g.35911730G>A
NG_033897.1   g.85684C>T
NM_052961.4   c.2860C>T
NM_052961.3   c.2860C>T
NM_001193476.2   c.2860C>T
NM_001193476.1   c.2860C>T
NM_138718.2   c.2545C>T
XM_011514294.3   c.2782C>T
XM_017010235.1   c.2860C>T
NP_4431  

rs397515622

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55491203C>A
NC_000015.9   g.55783401C>A
NG_021213.1   g.22032G>T
NM_130810.4   c.325G>T
NM_130810.3   c.325G>T
NM_001033559.2   c.325G>T
NM_001033560.1   c.325G>T
NR_037923.1   n.580G>T
NP_570722.2   p.Glu109Ter
NP_001028731.1   p.Glu109Ter
NP_001028732  

rs397515621

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55439557G>A
NC_000015.10   g.55439557G>C
NC_000015.9   g.55731755G>A
NC_000015.9   g.55731755G>C
NG_021213.1   g.73678C>T
NG_021213.1   g.73678C>G
NM_130810.4   c.808C>T
NM_130810.4   c.808C>G
NM_130810.3   c.808C>T
NM_130810.3   c.808C>G
NM_001033559.2  

rs387906690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500568G>A
NC_000009.11   g.127262847G>A
NG_008176.1   g.11853C>T
NM_004959.5   c.392C>T
NM_004959.4   c.392C>T
NP_004950.2   p.Pro131Leu|SEQ=[G/A]|GENE=NR5A1

rs201095702

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500326C>T
NC_000009.11   g.127262605C>T
NG_008176.1   g.12095G>A
NM_004959.5   c.634G>A
NM_004959.4   c.634G>A
NP_004950.2   p.Gly212Ser|SEQ=[C/T]|GENE=NR5A1

rs200163795

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500592C>G
NC_000009.12   g.124500592C>T
NC_000009.11   g.127262871C>G
NC_000009.11   g.127262871C>T
NG_008176.1   g.11829G>C
NG_008176.1   g.11829G>A
NM_004959.5   c.368G>C
NM_004959.5   c.368G>A
NM_004959.4   c.368G>C
NM_004959.4   c.368G>A
NP_00495  

rs142724470

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35951201C>T
NC_000006.11   g.35918978C>T
NG_033897.1   g.78436G>A
NM_052961.4   c.2434G>A
NM_052961.3   c.2434G>A
NM_001193476.2   c.2434G>A
NM_001193476.1   c.2434G>A
NM_138718.2   c.2119G>A
XM_011514294.3   c.2356G>A
XM_017010235.1   c.2434G>A
NP_4431  

rs140210148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.36012301C>T
NC_000006.11   g.35980078C>T
NG_033897.1   g.17336G>A
NM_052961.4   c.260G>A
NM_052961.3   c.260G>A
NM_001193476.2   c.260G>A
NM_001193476.1   c.260G>A
NM_138718.2   c.260G>A
XM_011514294.3   c.260G>A
XR_926055.3   n.370G>A
XM_017010235.1   c.

rs17005650

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.122318633G>C
NC_000004.11   g.123239788G>C
NG_015813.2   g.153031G>C
NG_015813.1   g.153031G>C|SEQ=[G/C]|GENE=KIAA1109

rs11467497

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145515_145518CAAA[1]
NC_000020.10   g.126156_126159CAAA[1]
NM_030931.4   c.159_162CAAA[1]
NM_030931.3   c.159_162CAAA[1]
NP_112193.1   p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs1110061

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500523C>A
NC_000009.12   g.124500523C>G
NC_000009.11   g.127262802C>A
NC_000009.11   g.127262802C>G
NG_008176.1   g.11898G>T
NG_008176.1   g.11898G>C
NM_004959.5   c.437G>T
NM_004959.5   c.437G>C
NM_004959.4   c.437G>T
NM_004959.4   c.437G>C
NP_00495  

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs750682280

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500658C>T
NC_000009.11   g.127262937C>T
NG_008176.1   g.11763G>A
NM_004959.5   c.302G>A
NM_004959.4   c.302G>A
NP_004950.2   p.Arg101Gln|SEQ=[C/T]|GENE=NR5A1

rs498422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

rs7562326

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31573695T>A
NC_000002.12   g.31573695T>C
NC_000002.11   g.31798765T>A
NC_000002.11   g.31798765T>C
NG_008365.1   g.12277A>T
NG_008365.1   g.12277A>G|SEQ=[T/A/C]|GENE=SRD5A2

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

rs523349

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31580636G>A
NC_000002.12   g.31580636G>C
NC_000002.12   g.31580636G>T
NC_000002.11   g.31805706G>A
NC_000002.11   g.31805706G>C
NC_000002.11   g.31805706G>T
NG_008365.1   g.5336C>T
NG_008365.1   g.5336C>G
NG_008365.1   g.5336C>A
NM_000348.4   c.265C>T
N  

rs140685149

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145673_145674del
NC_000020.11   g.145674del
NC_000020.11   g.145674dup
NC_000020.10   g.126314_126315del
NC_000020.10   g.126315del
NC_000020.10   g.126315dup
NM_030931.4   c.317_318del
NM_030931.4   c.318del
NM_030931.4   c.318dup
NM_030931.3   c.317_3

rs632148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31580962C>G
NC_000002.11   g.31806031C>G
NG_008365.1   g.5010G>C
NM_000348.3   c.-62G>C|SEQ=[C/G]|GENE=SRD5A2

rs2300701

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31561938A>G
NC_000002.11   g.31787008A>G
NG_008365.1   g.24034T>C|SEQ=[A/G]|GENE=SRD5A2

rs2268797

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31558682C>T
NC_000002.11   g.31783752C>T
NG_008365.1   g.27290G>A
XM_011533069.2   c.-171G>A|SEQ=[C/T]|GENE=SRD5A2

rs12470143

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31538488C>T
NC_000002.11   g.31763558C>T
NG_008365.1   g.47484G>A|SEQ=[C/T]|GENE=SRD5A2

rs200749741

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500574G>A
NC_000009.11   g.127262853G>A
NG_008176.1   g.11847C>T
NM_004959.5   c.386C>T
NM_004959.4   c.386C>T
NP_004950.2   p.Pro129Leu|SEQ=[G/A]|GENE=NR5A1

rs143355429

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500173C>T
NC_000009.11   g.127262452C>T
NG_008176.1   g.12248G>A
NM_004959.5   c.787G>A
NM_004959.4   c.787G>A
NP_004950.2   p.Gly263Ser|SEQ=[C/T]|GENE=NR5A1

rs759071081

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124491167G>A
NC_000009.11   g.127253446G>A
NG_008176.1   g.21254C>T
NM_004959.5   c.1052C>T
NM_004959.4   c.1052C>T
NP_004950.2   p.Ala351Val|SEQ=[G/A]|GENE=NR5A1

Protein Summary

• Protein general information: P49588  
  • Name: Alanine tRNA ligase, cytoplasmic (EC 6.1.1.7) (Alanyl tRNA synthetase) (AlaRS) (Renal carcinoma antigen NY REN 42)
  • Length: 968  
  • Mass: 106810
• Sequence:

  MDSTLTASEIRQRFIDFFKRNEHTYVHSSATIPLDDPTLLFANAGMNQFKPIFLNTIDPSHPMAKLSRAANTQKC
  IRAGGKHNDLDDVGKDVYHHTFFEMLGSWSFGDYFKELACKMALELLTQEFGIPIERLYVTYFGGDEAAGLEADL
  ECKQIWQNLGLDDTKILPGNMKDNFWEMGDTGPCGPCSEIHYDRIGGRDAAHLVNQDDPNVLEIWNLVFIQYNRE
  ADGILKPLPKKSIDTGMGLERLVSVLQNKMSNYDTDLFVPYFEAIQKGTGARPYTGKVGAEDADGIDMAYRVLAD
  HARTITVALADGGRPDNTGRGYVLRRILRRAVRYAHEKLNASRGFFATLVDVVVQSLGDAFPELKKDPDMVKDII
  NEEEVQFLKTLSRGRRILDRKIQSLGDSKTIPGDTAWLLYDTYGFPVDLTGLIAEEKGLVVDMDGFEEERKLAQL
  KSQGKGAGGEDLIMLDIYAIEELRARGLEVTDDSPKYNYHLDSSGSYVFENTVATVMALRREKMFVEEVSTGQEC
  GVVLDKTCFYAEQGGQIYDEGYLVKVDDSSEDKTEFTVKNAQVRGGYVLHIGTIYGDLKVGDQVWLFIDEPRRRP
  IMSNHTATHILNFALRSVLGEADQKGSLVAPDRLRFDFTAKGAMSTQQIKKAEEIANEMIEAAKAVYTQDCPLAA
  AKAIQGLRAVFDETYPDPVRVVSIGVPVSELLDDPSGPAGSLTSVEFCGGTHLRNSSHAGAFVIVTEEAIAKGIR
  RIVAVTGAEAQKALRKAESLKKCLSVMEAKVKAQTAPNKDVQREIADLGEALATAVIPQWQKDELRETLKSLKKV
  MDDLDRASKADVQKRVLEKTKQFIDSNPNQPLVILEMESGASAKALNEALKLFKMHSPQTSAMLFTVDNEAGKIT
  CLCQVPQNAANRGLKASEWVQQVSGLMDGKGGGKDVSAQATGKNVGCLQEALQLATSFAQLRLGDVKN

• Structural information:
  • Interpro: IPR002318  IPR018162  IPR018165  IPR018164  IPR023033   IPR003156  IPR018163  IPR009000  IPR012947  
  • Prosite: PS50860
  • PDB: 4XEM 4XEO 5KNN 5T5S 5T76 5V59
  • PDBsum: 4XEM 4XEO 5KNN 5T5S 5T76 5V59
  • STRING: ENSP00000261772
• Other Databases: GeneCards:  AARS1  Malacards:  AARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000049	tRNA binding	IBA	molecular function
GO:0002161	aminoacyl-tRNA editing activity	IBA	molecular function
GO:0004813	alanine-tRNA ligase activity	IBA	molecular function
GO:0016597	amino acid binding	IBA	molecular function
GO:0070143	mitochondrial alanyl-tRNA aminoacylation	IBA	biological process
GO:0005524	ATP binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0006400	tRNA modification	IBA	biological process
GO:0006419	alanyl-tRNA aminoacylation	IBA	biological process
GO:0002161	aminoacyl-tRNA editing activity	IDA	molecular function
GO:0004813	alanine-tRNA ligase activity	IDA	molecular function
GO:0004813	alanine-tRNA ligase activity	IDA	molecular function
GO:0006419	alanyl-tRNA aminoacylation	IDA	biological process
GO:0006419	alanyl-tRNA aminoacylation	IDA	biological process
GO:0002196	Ser-tRNA(Ala) hydrolase activity	ISS	molecular function
GO:0006400	tRNA modification	ISS	biological process
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:0006412	translation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000049	tRNA binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006419	alanyl-tRNA aminoacylation	TAS	biological process
GO:0008033	tRNA processing	TAS	biological process
GO:0004813	alanine-tRNA ligase activity	IEA	molecular function
GO:0004813	alanine-tRNA ligase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0016597	amino acid binding	IEA	molecular function
GO:0004813	alanine-tRNA ligase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0140018	regulation of cytoplasmic translational fidelity	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0021680	cerebellar Purkinje cell layer development	IEA	biological process
GO:0004813	alanine-tRNA ligase activity	IEA	molecular function
GO:0002196	Ser-tRNA(Ala) hydrolase activity	IEA	molecular function
GO:0002161	aminoacyl-tRNA editing activity	IEA	molecular function
GO:0006419	alanyl-tRNA aminoacylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0045182	translation regulator activity	IEA	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0006419	alanyl-tRNA aminoacylation	IEA	biological process
GO:0006400	tRNA modification	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0004813	alanine-tRNA ligase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Charcot-Marie-Tooth disease	KEGG:H00264
Early infantile epileptic encephalopathy	KEGG:H00606
Charcot-Marie-Tooth disease	KEGG:H00264
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq