Details for: PARS2
Associated with
Other Information
Genular Protein ID: 1480792956
Symbol: SYPM_HUMAN
Name: Probable proline--tRNA ligase, mitochondrial
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 15779907
Title: Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.
PubMed ID: 15779907
DOI: 10.1021/bi047527z
PubMed ID: 25629079
Title: Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
PubMed ID: 25629079
DOI: 10.1002/mgg3.115
PubMed ID: 28077841
Title: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
PubMed ID: 28077841
DOI: 10.1038/jhg.2016.163
PubMed ID: 28202951
PubMed ID: 29410512
Title: Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
PubMed ID: 29410512
PubMed ID: 29915213
Title: The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
PubMed ID: 29915213
PubMed ID: 30237576
Title: Autozygome and high throughput confirmation of disease genes candidacy.
PubMed ID: 30237576
PubMed ID: 34585293
Title: Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
PubMed ID: 34585293
Sequence Information:
- Length: 475
- Mass: 53263
- Checksum: E3B1B07CB6225BA2
- Sequence:
MEGLLTRCRA LPALATCSRQ LSGYVPCRFH HCAPRRGRRL LLSRVFQPQN LREDRVLSLQ DKSDDLTCKS QRLMLQVGLI YPASPGCYHL LPYTVRAMEK LVRVIDQEMQ AIGGQKVNMP SLSPAELWQA TNRWDLMGKE LLRLRDRHGK EYCLGPTHEE AITALIASQK KLSYKQLPFL LYQVTRKFRD EPRPRFGLLR GREFYMKDMY TFDSSPEAAQ QTYSLVCDAY CSLFNKLGLP FVKVQADVGT IGGTVSHEFQ LPVDIGEDRL AICPRCSFSA NMETLDLSQM NCPACQGPLT KTKGIEVGHT FYLGTKYSSI FNAQFTNVCG KPTLAEMGCY GLGVTRILAA AIEVLSTEDC VRWPSLLAPY QACLIPPKKG SKEQAASELI GQLYDHITEA VPQLHGEVLL DDRTHLTIGN RLKDANKFGY PFVIIAGKRA LEDPAHFEVW CQNTGEVAFL TKDGVMDLLT PVQTV
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.