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FLASH GENE
Symbol IARS contributors: mct - updated : 16-09-2016
HGNC name isoleucine-tRNA synthetase
HGNC id 5330
Corresponding disease
GRIDHH growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Location 9q22.31      Physical location : 94.972.624 - 95.056.038
Synonym name isoleucine tRNA ligase 1, cytoplasmic
Synonym symbol(s) ILRS, ISM1, FLJ20736, IARS1, PRO0785
EC.number 6.1.1.5
DNA
TYPE functioning gene
STRUCTURE 83.55 kb     34 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
AUH 9q22 AU RNA binding protein/enoyl-Coenzyme A hydratase NFIL3 9q22 nuclear factor, interleukin 3 regulated ROR2 9q22.3 receptor tyrosine kinase-like orphan receptor 2 LOC347318 9q22.31 similar to 60S ribosomal protein L21 SPTLC1 9q22.1-q22.2 serine palmitoyltransferase, long chain base subunit 1 LOC389772 9 similar to Osteotesticular phosphatase; protein tyrosine phosphatase, receptor type, V LOC392368 9 similar to KIAA1553 protein LOC138652 9q22.32 similar to bA62C3.1 (similar to testicular serine protease) IARS 9q21 isoleucine-tRNA synthetase C9orf34 9q22.32 chromosome 9 open reading frame 34 OGN 9q22.3 osteoglycin (osteoinductive factor, mimecan) OMD 9p22.3 osteomodulin ASPN 9q22-q31 asporin (LRR class 1) ECM2 9q22.3 extracellular matrix protein 2, female organ and adipocyte specific C9orf12 9q21.33-q22.31 chromosome 9 open reading frame 12 BICD2 9q22.1-q22.3 chromosome 9 open reading frame 12 ANKRD19 9q22.32 ankyrin repeat domain 19 BA526D8.4 9q22.32 KRAB box containing C2H2 type zinc finger bA526D8.4 LOC389773 9 LOC389773 LOC340518 9q22.32 similar to Alox15 protein FGD3 9q22 FGD1 family, member 3 MGC26847 LOC389774 9 LOC389774 MGC11115 9q22.32 hypothetical protein MGC11115 LOC389775 9 LOC389775 NINJ1 9q22.3 ninjurin 1 PRKWNK2 9q22.3 protein kinase, lysine deficient 2
RNA
TRANSCRIPTS type messenger
text two alternatively spliced variants (5'utr)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
34 - 4716 - 1262 - 1995 7721108
  • IARS Vl
  • 34 - 4546 - 1262 - 1995 7721108
  • IARS-Vs
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Endocrinethyroid   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to C.elegans rha8.6
    Homologene
    FAMILY class 1 aminoacyl tRNA synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • playing a central role in linking amino acids with nucleotide triplets contained in tRNAS
  • IARS enzyme activity seems to be independent of zinc levels and the beneficial effect of zinc supplementation is likely compensating secondary zinc deficiency
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GRIDHH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS