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    PARS2 prolyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 25973, updated on 4-Jul-2021

    Summary

    Official Symbol
    PARS2provided by HGNC
    Official Full Name
    prolyl-tRNA synthetase 2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:30563
    See related
    Ensembl:ENSG00000162396 MIM:612036
    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
    DEE75; proRS; EIEE75; MT-PRORS
    Summary
    This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]
    Expression
    Ubiquitous expression in testis (RPKM 3.4), ovary (RPKM 2.8) and 24 other tissues See more
    Orthologs
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    Genomic context

    See PARS2 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (54756898..54764523, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55222571..55230196, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MROH7-TTC4 readthrough (NMD candidate) Neighboring gene maestro heat like repeat family member 7 Neighboring gene tetratricopeptide repeat domain 4 Neighboring gene tetratricopeptide repeat domain 22 Neighboring gene lymphocyte expansion molecule

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC14416, MGC19467, DKFZp727A071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables proline-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in prolyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    probable proline--tRNA ligase, mitochondrial
    Names
    proline tRNA ligase 2, mitochondrial (putative)
    prolyl-tRNA synthetase 2, mitochondrial (putative)
    NP_689481.2

    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.

    Genomic

    1. NG_042048.1 RefSeqGene

      Range
      5031..12656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152268.4NP_689481.2  probable proline--tRNA ligase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_689481.2

      Status: REVIEWED

      Source sequence(s)
      BC011758, DB004072
      Consensus CDS
      CCDS597.1
      UniProtKB/Swiss-Prot
      Q7L3T8
      Related
      ENSP00000360327.3, ENST00000371279.4
      Conserved Domains (2) summary
      cd00779
      Location:65354
      ProRS_core_prok; Prolyl-tRNA synthetase (ProRS) class II core catalytic domain. ProRS is a homodimer. It is responsible for the attachment of proline to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent formation of ...
      cl00266
      Location:369470
      HGTP_anticodon; HGTP anticodon binding domain, as found at the C-terminus of histidyl, glycyl, threonyl and prolyl tRNA synthetases, which are classified as a group of class II aminoacyl-tRNA synthetases (aaRS). In aaRSs, the anticodon binding domain is responsible for ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      54756898..54764523 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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