SARS1 (seryl-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.
6301
Gene name Gene Name - the full gene name approved by the HGNC.
Seryl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SARS1
Synonyms (NCBI Gene) Gene synonyms aliases
NEDMAS, SARS, SERRS, SERS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but th
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs1553178049 G>A Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs1553178399 T>C Pathogenic Genic downstream transcript variant, 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(42)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 24940000
GO:0000166 Function Nucleotide binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 24940000
GO:0001514 Process Selenocysteine incorporation IMP 34570399
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
607529 10537 ENSG00000031698
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P49591
Protein name Serine--tRNA ligase, cytoplasmic (EC 6.1.1.11) (Seryl-tRNA synthetase) (SerRS) (Seryl-tRNA(Ser/Sec) synthetase)
Protein function Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser) (PubMed:22353712, PubMed:24095058, PubMed:26433229, PubMed:28236339, P
PDB 3VBB , 4L87 , 4RQE , 4RQF , 8P7B , 8P7C , 8P7D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02403 Seryl_tRNA_N 2 → 113 Seryl-tRNA synthetase N-terminal domain Domain
PF00587 tRNA-synt_2b 248 → 444 tRNA synthetase class II core domain (G, H, P, S and T) Domain
Tissue specificity TISSUE SPECIFICITY: Brain. {ECO:0000269|PubMed:28236339}.
Sequence 
MVLDLDLFRVDKGGDPALIRETQEKRFKDPGLVDQLVKADSEWRRCRFRADNLNKLKNLC
SKTIGEKMKKKEPVGDDESVPENVLSFDDLTADALANLKVSQIKKVRLLIDEAILKCDAE
RIKLEAERFENLREIGNLLHPSVPISNDEDVDNKVERIWGDCTVRKKYSHVDLVVMVDGF
EGEKGAVVAGSRGYFLKGVLVFLEQALIQYALRTLGSRGYIPIYTPFFMRKEVMQEVAQL
SQFDEELYKVIGKGSEKSDDNSYDEKYLIATSEQPIAALHRDEWLRPEDLPIKYAGLSTC
FRQEVGSHGRDTRGIFRVHQFEKIEQFVYSSPHDNKSWEMFEEMITTAEEFYQSLGIPYH
IVNIVSGSLNHAASKKLDLEAWFPGSGAFRELVSCSNCTDYQARRLRIRYGQTKKMMDKV
EFVHMLNATMCATTRTICAILENYQTEKGITVPEKLKEFMPPGLQELIPFVKPAPIEQEP
SKKQKKQHEGSKKKAAARDVTLENRLQNMEVTDA
Sequence length 514
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   Selenocysteine synthesis
Cytosolic tRNA aminoacylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
cerebral arteriovenous malformation Cerebral arteriovenous malformation rs1553178399 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome N/A N/A ClinVar
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures neurodevelopmental disorder with microcephaly, ataxia, and seizures N/A N/A ClinVar, GenCC
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alkalosis Associate 21255763
Ataxia Associate 36041817
Developmental Disabilities Associate 36041817
Hypertension Pulmonary Associate 21255763
Hyperuricemia Associate 21255763
Intellectual Disability Associate 36041817
Microcephaly Associate 36041817
Monoclonal Gammopathy of Undetermined Significance Associate 37587064
Multiple Myeloma Associate 37587064
Neoplasms Associate 37587064