Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 54938, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See SARS2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (38915266..38930763, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39405904..39421536, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene sirtuin 2 Neighboring gene NFKB inhibitor beta Neighboring gene coiled-coil glutamate rich protein 2 Neighboring gene mitochondrial ribosomal protein S12 Neighboring gene F-box protein 17 Neighboring gene F-box protein 27

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: FBXO17

    Homology

    Clone Names

    • FLJ20450

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    RNA binding HDA PubMed 
    serine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    serine-tRNA ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    selenocysteinyl-tRNA(Sec) biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    seryl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    seryl-tRNA aminoacylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    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)

    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
      5001..20633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145901.2NP_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/Swiss-Prot
      Q9NP81
      Related
      ENSP00000472847.1, ENST00000600042.5
      Conserved Domains (2) summary
      PRK05431
      Location:58495
      PRK05431; seryl-tRNA synthetase; Provisional
      cd00770
      Location:187487
      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_017827.4NP_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
      Q9NP81
      Related
      ENSP00000221431.5, ENST00000221431.10
      Conserved Domains (2) summary
      cd00770
      Location:185485
      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:58172
      Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_014040929.1 Reference GRCh38.p13 PATCHES

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