DARS1 (aspartyl-tRNA synthetase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1615
Gene name Gene Name - the full gene name approved by the HGNC.
Aspartyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DARS1
Synonyms (NCBI Gene) Gene synonyms aliases
DARS, HBSL, aspRS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HBSL
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyel
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
SNP ID Visualize variation Clinical significance Consequence
rs141522501 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs147077598 G>A,C Pathogenic Missense variant, coding sequence variant
rs199776135 A>C Conflicting-interpretations-of-pathogenicity Intron variant
rs369152939 G>A,C Pathogenic Coding sequence variant, missense variant
rs370064817 C>A,G,T Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA 21873635
GO:0004046 Function Aminoacylase activity TAS 8449960
GO:0004815 Function Aspartate-tRNA ligase activity IBA 21873635
GO:0005515 Function Protein binding IPI 16189514, 17474147, 19380743, 21900206, 25416956, 25609649, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603084 2678 ENSG00000115866
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P14868
Protein name Aspartate--tRNA ligase, cytoplasmic (EC 6.1.1.12) (Aspartyl-tRNA synthetase) (AspRS) (Cell proliferation-inducing gene 40 protein)
Protein function Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
PDB 4J15 , 5Y6L , 6IY6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01336 tRNA_anti-codon 60 → 145 OB-fold nucleic acid binding domain Domain
PF00152 tRNA-synt_2 175 → 496 tRNA synthetases class II (D, K and N) Domain
Tissue specificity TISSUE SPECIFICITY: Expression in the developing and adult brain shows similar patterns. Highly expressed in the ventricular and subventricular zones, including hippocampal subfields, the midlateral temporal cortex and the frontal polar cortex. The cerebe
Sequence
Sequence length 501
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Aminoacyl-tRNA biosynthesis   Cytosolic tRNA aminoacylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Developmental regression Developmental regression rs1224421127
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 28736931
Hypomyelination with brainstem and spinal cord involvement and leg spasticity HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, Hypomyelination with brain stem and spinal cord involvement and leg spasticity rs370064817, rs369152939, rs886037635, rs587776985, rs147077598, rs527236040, rs967111310 25527264, 24357685, 23643384
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining
Disease Name Relationship Type References
Brain Stem Neoplasms Associate 23643384
Carcinoma Renal Cell Associate 32526457
Colorectal Neoplasms Associate 37800782
Demyelinating Diseases Associate 25527264
Glioblastoma Associate 35111402
Heart Septal Defects Ventricular Associate 27871331
Hypoxia Associate 35638109
Hypoxia Brain Associate 35638109
Leukoencephalopathies Associate 25527264
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Associate 30325133, 31671122