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    SARS2 seryl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 54938, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SARS2provided by HGNC
    Official Full Name
    seryl-tRNA synthetase 2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:17697
    See related
    Ensembl:ENSG00000104835 MIM:612804; AllianceGenome:HGNC:17697
    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
    SYS; SARS; SERS; SARSM; SerRS; SerRSmt; mtSerRS
    Summary
    This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.7), placenta (RPKM 5.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SARS2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38915266..38930763, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41719237..41734732, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39405906..39421403, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NFKB inhibitor beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39402426-39403052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39403053-39403677 Neighboring gene coiled-coil glutamate rich protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39408779-39409649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14604 Neighboring gene mitochondrial ribosomal protein S12 Neighboring gene uncharacterized LOC124904713

    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 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. Modulation of Mrps12/Sarsm promoter activity in response to mitochondrial stress. Zanotto E, et al. Biochim Biophys Acta, 2008 Dec. PMID 18755224
    2. Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease. Yu T, et al. Nucleic Acids Res, 2022 Nov 11. PMID 36350636, Free PMC Article
    3. Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss. Tang X, et al. Mitochondrion, 2015 Jul. PMID 25968158
    4. Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease. He J, et al. Ann Neurol, 2023 Feb. PMID 36088542
    5. The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4. Parodi L, et al. Genet Med, 2022 Nov. PMID 36056923

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
      Title: Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
    2. Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.
      Title: Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.
    3. The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
      Title: The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
    4. Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
      Title: Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
    5. These data further support that the mitochondrial tRNA(Ser(UCN)) gene is the hot spot for mutations associated with hearing loss.
      Title: Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. NF-Y type CCAAT boxes are found preferentially in bidirectional Mrps12/Sarsm promoters, but many such promoters lack them and must be regulated in another way.
      Title: NF-Y influences directionality of transcription from the bidirectional Mrps12/Sarsm promoter in both mouse and human cells.
    Submit: New GeneRIF Correction

    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
    Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
    MedGen: C3151209 OMIM: 613845 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

    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

    Potential readthrough

    Included gene: FBXO17

    Homology

    Clone Names

    • FLJ20450

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-tRNA ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial seryl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in seryl-tRNA aminoacylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine--tRNA ligase, mitochondrial
    Names
    mitochondrial seryl-tRNA synthetase
    serine tRNA ligase 2, mitochondrial
    seryl-tRNA synthetase, mitochondrial
    seryl-tRNA(Ser/Sec) synthetase
    NP_001139373.1
    NP_060297.1

    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.

    Genomic

    1. NG_031865.1 RefSeqGene

      Range
      5134..20631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145901.2 → NP_001139373.1  serine--tRNA ligase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_001139373.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB029948, AK293414, BC042912, CA415983
      Consensus CDS
      CCDS54265.1
      UniProtKB/TrEMBL
      M0QWZ7
      Related
      ENSP00000472847.1, ENST00000600042.5
      Conserved Domains (2) summary
      PRK05431
      Location:58 → 495
      PRK05431; seryl-tRNA synthetase; Provisional
      cd00770
      Location:187 → 487
      SerRS_core; Seryl-tRNA synthetase (SerRS) class II core catalytic domain. SerRS is responsible for the attachment of serine to the 3' OH group of ribose of the appropriate tRNA. This domain It is primarily responsible for ATP-dependent formation of the enzyme bound ...

    2. NM_017827.4 → NP_060297.1  serine--tRNA ligase, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_060297.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform b which is 2 aa shorter than isoform a.
      Source sequence(s)
      AB029948, BC042912
      Consensus CDS
      CCDS33017.1
      UniProtKB/Swiss-Prot
      A6NHW7, B4DE10, Q9BVP3, Q9NP81
      UniProtKB/TrEMBL
      M0QWZ7
      Related
      ENSP00000221431.6, ENST00000221431.11
      Conserved Domains (2) summary
      cd00770
      Location:185 → 485
      SerRS_core; Seryl-tRNA synthetase (SerRS) class II core catalytic domain. SerRS is responsible for the attachment of serine to the 3' OH group of ribose of the appropriate tRNA. This domain It is primarily responsible for ATP-dependent formation of the enzyme bound ...
      cl12057
      Location:58 → 172
      Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      38915266..38930763 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040929.1 Reference GRCh38.p14 PATCHES

      Range
      324938..340435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41719237..41734732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NP81.1 GenPept UniProtKB/Swiss-Prot:Q9NP81

    Gene LinkOut

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

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