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... See more...

Aliases for AARS1 Gene

Aliases for AARS1 Gene

  • Alanyl-TRNA Synthetase 1 2 3
  • Alanyl-TRNA Synthetase 2 4 5
  • Alanine TRNA Ligase 1, Cytoplasmic 2 3
  • Alanine--TRNA Ligase, Cytoplasmic 3 4
  • Renal Carcinoma Antigen NY-REN-42 3 4
  • EC 6.1.1.7 4 52
  • AlaRS 3 4
  • AARS 3 5
  • Alanyl-TRNA Synthetase, Cytoplasmic 3
  • EC 6.1.1 52
  • EIEE29 3
  • CMT2N 3

External Ids for AARS1 Gene

Previous HGNC Symbols for AARS1 Gene

  • AARS

Summaries for AARS1 Gene

Entrez Gene Summary for AARS1 Gene

  • 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]

GeneCards Summary for AARS1 Gene

AARS1 (Alanyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with AARS1 include Charcot-Marie-Tooth Disease, Axonal, Type 2N and Epileptic Encephalopathy, Early Infantile, 29. Among its related pathways are Gene Expression and tRNA Aminoacylation. An important paralog of this gene is AARS2.

UniProtKB/Swiss-Prot Summary for AARS1 Gene

  • 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) (PubMed:27622773, PubMed:27911835, PubMed:28493438). Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:27622773, PubMed:27911835, PubMed:28493438).

Additional gene information for AARS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AARS1 Gene

Genomics for AARS1 Gene

GeneHancer (GH) Regulatory Elements for AARS1 Gene

Promoters and enhancers for AARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AARS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AARS1

Genomic Locations for AARS1 Gene

Genomic Locations for AARS1 Gene
chr16:70,252,295-70,289,550
(GRCh38/hg38)
Size:
37,256 bases
Orientation:
Minus strand
chr16:70,286,198-70,323,446
(GRCh37/hg19)
Size:
37,249 bases
Orientation:
Minus strand

Genomic View for AARS1 Gene

Genes around AARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AARS1 Gene

Proteins for AARS1 Gene

  • Protein details for AARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49588-SYAC_HUMAN
    Recommended name:
    Alanine--tRNA ligase, cytoplasmic
    Protein Accession:
    P49588
    Secondary Accessions:
    • A6NF14
    • B4DR45
    • Q53GV7
    • Q96FA0

    Protein attributes for AARS1 Gene

    Size:
    968 amino acids
    Molecular mass:
    106810 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer (PubMed:27911835). Interacts with ANKRD16; the interaction is direct (By similarity).

    Three dimensional structures from OCA and Proteopedia for AARS1 Gene

    Alternative splice isoforms for AARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AARS1 Gene

Selected DME Specific Peptides for AARS1 Gene

P49588:
  • GPCGPCSE
  • SFGDYFK
  • KDNFWEMG
  • WNLVFIQY
  • QKGSLVA
  • EDLIMLDIYAIEEL
  • PDRLRFD
  • ERLYVTYFGGDEAAGLE
  • FYAEQGGQ
  • TFFEMLG
  • YPDPVRVV
  • EIWNLVF
  • GGYVLHIG
  • MGDTGPCGP
  • RETLKSLKKVMDDLDRASKADVQKRVLEKTKQ
  • LYDTYGF
  • AVIPQWQ
  • THILNFAL
  • IDTGMGLER
  • YDTYGFP
  • SNYDTDL
  • KGLVVDMDGFEEER
  • IDSNPNQPLVILEMESGASAKALNEALKLFK
  • ERLVSVLQ
  • NAGMNQFK
  • GTHLRNSS
  • LRRAVRY
  • TDDSPKYNY
  • NYDTDLF
  • LAQLKSQGKGAG
  • DTGPCGPC
  • LRRILRRA
  • DRLRFDF
  • VRVVSIG
  • RTITVALADGGRPDNTGR
  • RGYVLRR
  • GLERLVS
  • SVLQNKMSNYDTD
  • CIRAGGKHNDL

Post-translational modifications for AARS1 Gene

  • ISGylated.
  • Ubiquitination at Lys19, Lys384, Lys677, Lys747, Lys762, Lys820, Lys846, and Lys876
  • Modification sites at PhosphoSitePlus

Other Protein References for AARS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AARS1 Gene

Gene Families for AARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AARS1 Gene

Suggested Antigen Peptide Sequences for AARS1 Gene

GenScript: Design optimal peptide antigens:
  • Renal carcinoma antigen NY-REN-42 (SYAC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49588

UniProtKB/Swiss-Prot:

SYAC_HUMAN :
  • Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs.
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Domain:
  • Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs.
  • The C-terminal C-Ala domain (residues 756 to 968) is not required for catalytic activity and can bind DNA (in vitro) (PubMed:27911835). The C-terminal C-Ala domain (residues 756 to 968), along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs. The human domain can be used in vitro to replace the corresponding domain in E.coli (PubMed:19661429).
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with AARS1: view

Function for AARS1 Gene

Molecular function for AARS1 Gene

UniProtKB/Swiss-Prot Function:
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) (PubMed:27622773, PubMed:27911835, PubMed:28493438). Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:27622773, PubMed:27911835, PubMed:28493438).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala); Xref=Rhea:RHEA:12540, Rhea:RHEA-COMP:9657, Rhea:RHEA-COMP:9923, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57972, ChEBI:CHEBI:78442, ChEBI:CHEBI:78497, ChEBI:CHEBI:456215; EC=6.1.1.7; Evidence={ECO:0000255 HAMAP-Rule:MF_03133, ECO:0000269 PubMed:25817015, ECO:0000269 PubMed:27622773, ECO:0000269 PubMed:27911835, ECO:0000269 PubMed:28493438};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.1 uM for tRNA(Ala) (at 37 Celsius) {ECO:0000269 PubMed:25817015}; Note=kcat is 0.4 sec(-1). {ECO:0000269 PubMed:25817015};

Enzyme Numbers (IUBMB) for AARS1 Gene

Phenotypes From GWAS Catalog for AARS1 Gene

Gene Ontology (GO) - Molecular Function for AARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IBA 21873635
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IDA 28493438
GO:0002196 Ser-tRNA(Ala) hydrolase activity IEA,ISS --
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with AARS1: view
genes like me logo Genes that share phenotypes with AARS1: view

Human Phenotype Ontology for AARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AARS1 Gene

MGI Knock Outs for AARS1:
  • Aars Aars<tm1Slac>

Animal Model Products

  • Taconic Biosciences Mouse Models for AARS1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AARS1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for AARS1 Gene

Localization for AARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AARS1 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 AARS1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
plasma membrane 2
cytoskeleton 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 7654687
GO:0005739 mitochondrion IBA 21873635
GO:0005829 cytosol TAS,IDA --
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with AARS1: view

Pathways & Interactions for AARS1 Gene

PathCards logo

SuperPathways for AARS1 Gene

genes like me logo Genes that share pathways with AARS1: view

Pathways by source for AARS1 Gene

1 KEGG pathway for AARS1 Gene

Gene Ontology (GO) - Biological Process for AARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification IBA,ISS --
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006419 alanyl-tRNA aminoacylation IDA,IEA 27622773
GO:0008033 tRNA processing TAS 7654687
genes like me logo Genes that share ontologies with AARS1: view

No data available for SIGNOR curated interactions for AARS1 Gene

Drugs & Compounds for AARS1 Gene

(5) Drugs for AARS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0
L-Alanine Nutra Full agonist, Agonist, Target Glycine receptor agonist 187

(5) Additional Compounds for AARS1 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 AARS1: view

Transcripts for AARS1 Gene

mRNA/cDNA for AARS1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AARS1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AARS1 Gene

No ASD Table

Relevant External Links for AARS1 Gene

GeneLoc Exon Structure for
AARS1

Expression for AARS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AARS1

SOURCE GeneReport for Unigene cluster for AARS1 Gene:

Hs.315137

Evidence on tissue expression from TISSUES for AARS1 Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Intestine(3.8)
  • Heart(2.9)
  • Lung(2.9)
  • Eye(2.8)
  • Skin(2.8)
  • Muscle(2.5)
  • Pancreas(2.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AARS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • head
  • skull
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • femur
  • foot
  • forearm
  • hip
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for AARS1 Gene

Orthologs for AARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AARS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AARS 31 30
  • 99.17 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AARS 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AARS 31 30
  • 90.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AARS 31 30
  • 89.98 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AARS 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aars 17 31 30
  • 88.05 (n)
rat
(Rattus norvegicus)
Mammalia Aars 30
  • 88.05 (n)
chicken
(Gallus gallus)
Aves AARS 31 30
  • 80.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AARS 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aars 30
  • 73.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6413 30
zebrafish
(Danio rerio)
Actinopterygii aars 31 30
  • 74.16 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Aats-ala 31 30
  • 61.12 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009701 30
  • 60.1 (n)
worm
(Caenorhabditis elegans)
Secernentea aars-2 31 30
  • 57.52 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR363C 30
  • 54.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALA1 33 31 30
  • 53.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02431g 30
  • 53.55 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALATS 30
  • 53.08 (n)
rice
(Oryza sativa)
Liliopsida Os10g0182000 30
  • 54.25 (n)
Os.11722 30
barley
(Hordeum vulgare)
Liliopsida Hv.1412 30
corn
(Zea mays)
Liliopsida Zm.3875 30
wheat
(Triticum aestivum)
Liliopsida Ta.2136 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 59 (a)
OneToOne
Cin.1737 30
bread mold
(Neurospora crassa)
Ascomycetes NCU02566 30
  • 54.22 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ala1 30
  • 53.38 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1737 30
Species where no ortholog for AARS1 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AARS1 Gene

ENSEMBL:
Gene Tree for AARS1 (if available)
TreeFam:
Gene Tree for AARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AARS1: view image

Paralogs for AARS1 Gene

Paralogs for AARS1 Gene

Pseudogenes.org Pseudogenes for AARS1 Gene

genes like me logo Genes that share paralogs with AARS1: view

Variants for AARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AARS1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
565349 Uncertain Significance: Charcot-Marie-Tooth disease, type 2; not provided 70,252,758(-) G/C MISSENSE_VARIANT
565885 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 70,271,851(-) C/T MISSENSE_VARIANT
568018 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 70,265,551(-) C/A MISSENSE_VARIANT
568507 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 70,267,802(-) G/C MISSENSE_VARIANT
568982 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 70,267,779(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for AARS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AARS1 Gene

Variant ID Type Subtype PubMed ID
esv2758652 CNV gain+loss 17122850
esv33745 CNV gain+loss 17666407
esv3553624 CNV deletion 23714750
esv3638952 CNV gain 21293372
nsv1061286 CNV gain 25217958
nsv428328 CNV gain+loss 18775914
nsv7285 OTHER inversion 18451855
nsv833271 CNV gain+loss 17160897

Variation tolerance for AARS1 Gene

Residual Variation Intolerance Score: 4.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.63; 78.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AARS1 Gene

Disorders for AARS1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for AARS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYAC_HUMAN
  • Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:20045102, ECO:0000269 PubMed:22009580, ECO:0000269 PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination. {ECO:0000269 PubMed:25817015, ECO:0000269 PubMed:28493438}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with AARS1: view

No data available for Genatlas and External Links for AARS1 Gene

Publications for AARS1 Gene

  1. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. (PMID: 20045102) Latour P … Rousson R (American journal of human genetics 2010) 3 4 23 54
  2. Localization of two human autoantigen genes by PCR screening and in situ hybridization--glycyl-tRNA synthetase locates to 7p15 and alanyl-tRNA synthetase locates to 16q22. (PMID: 8595897) Nichols RC … Liu P (Genomics 1995) 2 3 23 54
  3. Human alanyl-tRNA synthetase: conservation in evolution of catalytic core and microhelix recognition. (PMID: 7654687) Shiba K … Schimmel P (Biochemistry 1995) 3 4 23 54
  4. Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. (PMID: 28493438) Nakayama T … Mochida GH (Human mutation 2017) 3 4 54
  5. Evolutionary Gain of Alanine Mischarging to Noncognate tRNAs with a G4:U69 Base Pair. (PMID: 27622773) Sun L … Yang XL (Journal of the American Chemical Society 2016) 3 4 54

Products for AARS1 Gene

Sources for AARS1 Gene