Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1615
Gene name	Aspartyl-tRNA synthetase 1
Gene symbol	DARS1
Synonyms (NCBI Gene)	DARSHBSLaspRS
Chromosome	2
Chromosome location	2q21.3
Summary	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

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
rs377510027	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs527236040	T>A	Pathogenic	Coding sequence variant, missense variant
rs587776984	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587776985	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs761230959	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs886037635	T>G	Pathogenic	Coding sequence variant, missense variant
rs967111310	C>T	Pathogenic	Missense variant, coding sequence variant
rs1060499772	C>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IBA
GO:0004046	Function	Aminoacylase activity	TAS	8449960
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004815	Function	Aspartate-tRNA ligase activity	IBA
GO:0004815	Function	Aspartate-tRNA ligase activity	IEA
GO:0004815	Function	Aspartate-tRNA ligase activity	TAS	8449960
GO:0005515	Function	Protein binding	IPI	16189514, 17474147, 19380743, 21900206, 25416956, 25609649, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	8449960
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	TAS	8449960
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006422	Process	Aspartyl-tRNA aminoacylation	IBA
GO:0006422	Process	Aspartyl-tRNA aminoacylation	IEA
GO:0006422	Process	Aspartyl-tRNA aminoacylation	TAS	8449960
GO:0016020	Component	Membrane	HDA	19946888
GO:0016874	Function	Ligase activity	IEA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IBA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IEA
GO:0045202	Component	Synapse	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	8449960
GO:0070062	Component	Extracellular exosome	HDA	20458337

MIM	HGNC	e!Ensembl
603084	2678	ENSG00000115866

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

MPSASASRKSQEKPREIMDAAEDYAKERYGISSMIQSQEKPDRVLVRVRDLTIQKADEVV
WVRARVHTSRAKGKQCFLVLRQQQFNVQALVAVGDHASKQMVKFAANINKESIVDVEGVV
RKVNQKIGSCTQQDVELHVQKIYVISLAEPRLPLQLDDAVRPEAEGEEEGRATVNQDTRL
DNRVIDLRTSTSQAVFRLQSGICHLFRETLINKGFVEIQTPKIISAASEGGANVFTVSYF
KNNAYLAQSPQLYKQMCICADFEKVFSIGPVFRAEDSNTHRHLTEFVGLDIEMAFNYHYH
EVMEEIADTMVQIFKGLQERFQTEIQTVNKQFPCEPFKFLEPTLRLEYCEALAMLREAGV
EMGDEDDLSTPNEKLLGHLVKEKYDTDFYILDKYPLAVRPFYTMPDPRNPKQSNSYDMFM
RGEEILSGAQRIHDPQLLTERALHHGIDLEKIKAYIDSFRFGAPPHAGGGIGLERVTMLF
LGLHNVRQTSMFPRDPKRLTP

Sequence length

501

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Cytosolic tRNA aminoacylation

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499772	RCV000454195
Hypomyelination with brain stem and spinal cord involvement and leg spasticity	Pathogenic; Likely pathogenic	rs527236040, rs967111310, rs370064817, rs369152939, rs886037635, rs587776985, rs147077598	RCV000132724 RCV000625842 RCV000043682 RCV000043683 RCV000043684 RCV000043686 RCV000043687

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs199776135	RCV005904578
DARS1-related disorder	Likely benign; Conflicting classifications of pathogenicity	rs373337130, rs781360476, rs200029648, rs200897445, rs1803167, rs2467381144, rs201935657, rs2228660, rs141522501, rs373077996, rs369617769, rs199776135, rs149170955	RCV003951350 RCV003916405 RCV004758225 RCV003963797 RCV003904221 RCV003944124 RCV003936852 RCV003942711 RCV003925558 RCV003935661 RCV003920805 RCV003975582 RCV004758088
Familial cancer of breast	Likely benign	rs781360476	RCV005869740
Gastric cancer	Uncertain significance	rs747031340	RCV005928315
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs199776135	RCV005904580
Sarcoma	Conflicting classifications of pathogenicity	rs199776135	RCV005904579

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Muscle Spasticity	Associate	23643384, 25527264
Neoplasms	Associate	32526457
Neoplastic Syndromes Hereditary	Associate	25527264
Neuroinflammatory Diseases	Associate	25527264
Paraplegia	Associate	25527264
Spinal Cord Diseases	Associate	25527264
Systemic Inflammatory Response Syndrome	Associate	25527264
Uterine Cervical Neoplasms	Associate	35638109

DARS1 (aspartyl-tRNA synthetase 1)