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AARS1
HPA
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  • AARS1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

AARS1
Synonyms AARS, AlaRS, CMT2N
Gene descriptioni

Full gene name according to HGNC.

Alanyl-tRNA synthetase 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 16
Cytoband q22.1
Chromosome location (bp) 70251983 - 70289707
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

11
Ensembl ENSG00000090861 (version 109)
Entrez gene 16
HGNC HGNC:20
UniProt P49588 (UniProt - Evidence at protein level)
neXtProt NX_P49588
GeneCards AARS1
Antibodypedia AARS1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala) 1, 2, 3, 4. Also edits incorrectly charged tRNA(Ala) via its editing domain 5, 6, 7.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Aminoacyl-tRNA synthetase, Ligase, RNA-binding, tRNA-binding
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Protein biosynthesis
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Metal-binding, Nucleotide-binding, Zinc
Gene summary (Entrez)i

Useful information about the gene from 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 human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
AARS1-201
ENSP00000261772
ENST00000261772
P49588
[Direct mapping] Alanine--tRNA ligase, cytoplasmic
Show all
Enzymes
   ENZYME proteins
   Ligase
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0002161 [aminoacyl-tRNA editing activity]
GO:0002196 [Ser-tRNA(Ala) hydrolase activity]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006399 [tRNA metabolic process]
GO:0006400 [tRNA modification]
GO:0006412 [translation]
GO:0006418 [tRNA aminoacylation for protein translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008033 [tRNA processing]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0016597 [amino acid binding]
GO:0016874 [ligase activity]
GO:0021680 [cerebellar Purkinje cell layer development]
GO:0043039 [tRNA aminoacylation]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0045182 [translation regulator activity]
GO:0046872 [metal ion binding]
GO:0050885 [neuromuscular process controlling balance]
GO:0050905 [neuromuscular process]
GO:0051402 [neuron apoptotic process]
GO:0070062 [extracellular exosome]
GO:0106074 [aminoacyl-tRNA metabolism involved in translational fidelity]
GO:0140018 [regulation of cytoplasmic translational fidelity]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
968 aa
106.8 kDa
No 0
AARS1-203
ENSP00000455360
ENST00000565361
H3BPK7
[Direct mapping] Alanine--tRNA ligase
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006399 [tRNA metabolic process]
GO:0006412 [translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
999 aa
110.1 kDa
No 0
AARS1-208
ENSP00000501613
ENST00000674512
A0A6Q8PF33
[Direct mapping] Alanine--tRNA ligase
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0006399 [tRNA metabolic process]
GO:0006412 [translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
961 aa
106.1 kDa
No 0
AARS1-210
ENSP00000502247
ENST00000674691
P49588
[Direct mapping] Alanine--tRNA ligase, cytoplasmic
Show all
Enzymes
   ENZYME proteins
   Ligase
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0002161 [aminoacyl-tRNA editing activity]
GO:0002196 [Ser-tRNA(Ala) hydrolase activity]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006399 [tRNA metabolic process]
GO:0006400 [tRNA modification]
GO:0006412 [translation]
GO:0006418 [tRNA aminoacylation for protein translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008033 [tRNA processing]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0016597 [amino acid binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0070062 [extracellular exosome]
GO:0106074 [aminoacyl-tRNA metabolism involved in translational fidelity]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
968 aa
106.8 kDa
No 0
AARS1-215
ENSP00000501924
ENST00000674963
P49588
[Direct mapping] Alanine--tRNA ligase, cytoplasmic
Show all
Enzymes
   ENZYME proteins
   Ligase
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0002161 [aminoacyl-tRNA editing activity]
GO:0002196 [Ser-tRNA(Ala) hydrolase activity]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006399 [tRNA metabolic process]
GO:0006400 [tRNA modification]
GO:0006412 [translation]
GO:0006418 [tRNA aminoacylation for protein translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008033 [tRNA processing]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0016597 [amino acid binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0070062 [extracellular exosome]
GO:0106074 [aminoacyl-tRNA metabolism involved in translational fidelity]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
968 aa
106.8 kDa
No 0
AARS1-217
ENSP00000502014
ENST00000675045
A0A6Q8PFY2
[Direct mapping] Alanine--tRNA ligase
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0006399 [tRNA metabolic process]
GO:0006412 [translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
977 aa
107.9 kDa
No 0
AARS1-219
ENSP00000502230
ENST00000675133
A0A6Q8PGE8
[Direct mapping] Alanine--tRNA ligase
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0006399 [tRNA metabolic process]
GO:0006412 [translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
959 aa
105.8 kDa
No 0
AARS1-228
ENSP00000502797
ENST00000675643
P49588
[Direct mapping] Alanine--tRNA ligase, cytoplasmic
Show all
Enzymes
   ENZYME proteins
   Ligase
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0002161 [aminoacyl-tRNA editing activity]
GO:0002196 [Ser-tRNA(Ala) hydrolase activity]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006399 [tRNA metabolic process]
GO:0006400 [tRNA modification]
GO:0006412 [translation]
GO:0006418 [tRNA aminoacylation for protein translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008033 [tRNA processing]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0016597 [amino acid binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0070062 [extracellular exosome]
GO:0106074 [aminoacyl-tRNA metabolism involved in translational fidelity]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
968 aa
106.8 kDa
No 0
AARS1-229
ENSP00000502196
ENST00000675691
A0A6Q8PGB5
[Direct mapping] Alanine--tRNA ligase
Show all
Metabolic proteins
   Phobius predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0006399 [tRNA metabolic process]
GO:0006412 [translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
925 aa
102.4 kDa
No 0
AARS1-231
ENSP00000502367
ENST00000675853
A0A6Q8PGN5
[Direct mapping] Alanine--tRNA ligase
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0006399 [tRNA metabolic process]
GO:0006412 [translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
984 aa
108.3 kDa
No 0
AARS1-233
ENSP00000502321
ENST00000675953
A0A6Q8PGR9
[Direct mapping] Alanine--tRNA ligase
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Epilepsy
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004813 [alanine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0006399 [tRNA metabolic process]
GO:0006412 [translation]
GO:0006419 [alanyl-tRNA aminoacylation]
GO:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0043039 [tRNA aminoacylation]
GO:0046872 [metal ion binding]
GO:0140101 [catalytic activity, acting on a tRNA]
Show all
940 aa
103.8 kDa
No 0

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