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    SARS1 seryl-tRNA synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 6301, updated on 7-Apr-2024

    Summary

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    Official Symbol
    SARS1provided by HGNC
    Official Full Name
    seryl-tRNA synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:10537
    See related
    Ensembl:ENSG00000031698 MIM:607529; AllianceGenome:HGNC:10537
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SARS; SERS; SERRS; NEDMAS
    Summary
    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 the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 44.0), brain (RPKM 25.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SARS1 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109213893..109238182)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109246703..109270991)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109756515..109780804)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1142 Neighboring gene cilia and flagella associated protein 276 Neighboring gene endosome-lysosome associated apoptosis and autophagy regulator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1436 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109739959-109741158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1437 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:109767996-109768680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109768681-109769365 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109772336-109773132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109773133-109773930 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109779623-109780822 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109781947-109782361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109782763-109783458 Neighboring gene Sharpr-MPRA regulatory region 12007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109785117-109785616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109791478-109792198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1145 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109793618-109793808 Neighboring gene VISTA enhancer hs2216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109802367-109802915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109803429-109803928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109806365-109807347 Neighboring gene cadherin EGF LAG seven-pass G-type receptor 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109807766-109807952 Neighboring gene VISTA enhancer hs2263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109820047-109820796 Neighboring gene proline and serine rich coiled-coil 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence. Verdura E, et al. J Med Genet, 2022 Dec. PMID 36041817, Free PMC Article
    2. A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Ravel JM, et al. Hum Mutat, 2021 Dec. PMID 34570399
    3. Insights into substrate promiscuity of human seryl-tRNA synthetase. Holman KM, et al. RNA, 2017 Nov. PMID 28808125, Free PMC Article
    4. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. Rivera H, et al. BMC Nephrol, 2013 Sep 13. PMID 24034276, Free PMC Article
    5. Crystallization and preliminary X-ray diffraction analysis of human cytosolic seryl-tRNA synthetase. Artero JB, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2010 Nov 1. PMID 21045311, Free PMC Article

    See all (99) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Seryl-tRNA synthetase promotes translational readthrough by mRNA binding and involvement of the selenocysteine incorporation machinery.
      Title: Seryl-tRNA synthetase promotes translational readthrough by mRNA binding and involvement of the selenocysteine incorporation machinery.
    2. WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
      Title: WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
    3. Glucose-sensitive acetylation of Seryl tRNA synthetase regulates lipid synthesis in breast cancer.
      Title: Glucose-sensitive acetylation of Seryl tRNA synthetase regulates lipid synthesis in breast cancer.
    4. Herb-sourced emodin inhibits angiogenesis of breast cancer by targeting VEGFA transcription.
      Title: Herb-sourced emodin inhibits angiogenesis of breast cancer by targeting VEGFA transcription.
    5. Here, we report on mutations in two aminoacyl-tRNA synthetases that are associated with Intellectual disability (ID) in two unrelated Iranian families. In the first family, we identified a homozygous missense mutation (c.514G>A, p.Asp172Asn) in the cytoplasmic seryl-tRNA synthetase (SARS) gene
      Title: Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
    6. Analyzed the ability of cytosolic SerRS to bind and act on tRNA(Ser), tRNA(Sec), and 10 mutant and chimeric constructs in which elements of tRNA(Ser) were transposed onto tRNA(Sec). We show that SerRS only subtly prefers tRNA(Ser) to tRNA(Sec), and that discrimination occurs at the level of the serylation reaction.
      Title: Insights into substrate promiscuity of human seryl-tRNA synthetase.
    7. Yin Yang 1 (YY1) interacts with Seryl-tRNA synthetase (SerRS) to form a SerRS/YY1 complex which functions as a negative effector to regulate vegfa transcription through binding a distal segment of the vegfa promoter, while NFKB1 serves as a positive effector through outcompeting SerRS/YY1 for binding at the same distal segment.
      Title: Competitive binding between Seryl-tRNA synthetase/YY1 complex and NFKB1 at the distal segment results in differential regulation of human vegfa promoter activity during angiogenesis.
    8. tRNA recognition mode of SerRS.
      Title: SerRS-tRNASec complex structures reveal mechanism of the first step in selenocysteine biosynthesis.
    9. Several data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome.
      Title: A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
    10. A long-range conformational and functional communication specific to higher eukaryotes is found in human SerRS.
      Title: Crystal structure of human Seryl-tRNA synthetase and Ser-SA complex reveals a molecular lever specific to higher eukaryotes.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with microcephaly, ataxia, and seizures
    MedGen: C4540188 OMIM: 617709 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with seryl-tRNA synthetase (SARS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36399

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables selenocysteine-tRNA ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables serine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serine-tRNA ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytoplasmic translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of vascular endothelial growth factor production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in selenocysteine incorporation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in seryl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in seryl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in seryl-tRNA aminoacylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tRNA modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine--tRNA ligase, cytoplasmic
    Names
    serine tRNA ligase 1, cytoplasmic
    seryl-tRNA synthetase, cytoplasmic
    seryl-tRNA(Ser/Sec) synthetase
    NP_001317598.1
    NP_006504.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330669.1 → NP_001317598.1  serine--tRNA ligase, cytoplasmic isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longer isoform (b).
      Source sequence(s)
      AL356389
      Consensus CDS
      CCDS81356.1
      UniProtKB/TrEMBL
      Q0VGA5, Q53HA4, Q5T5C7
      Related
      ENSP00000358939.4, ENST00000369923.4

    2. NM_006513.4 → NP_006504.2  serine--tRNA ligase, cytoplasmic isoform a

      See identical proteins and their annotated locations for NP_006504.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform b.
      Source sequence(s)
      BC009390, BC111398, BM666450
      Consensus CDS
      CCDS795.1
      UniProtKB/Swiss-Prot
      B2R6Y9, P49591, Q5T5C8, Q9NSE3
      UniProtKB/TrEMBL
      Q0VGA5, Q53HA4
      Related
      ENSP00000234677.2, ENST00000234677.7
      Conserved Domains (1) summary
      cl28419
      Location:3 → 486
      SerS; Seryl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

    RNA

    1. NR_034072.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL356389, BM798814, BP363347, DA792457

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109213893..109238182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109246703..109270991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_034073.1: Suppressed sequence

      Description
      NR_034073.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49591.3 GenPept UniProtKB/Swiss-Prot:P49591

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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