IARS1 (isoleucyl-tRNA synthetase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3376
Gene name Gene Name - the full gene name approved by the HGNC.
Isoleucyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IARS1
Synonyms (NCBI Gene) Gene synonyms aliases
GRIDHH, IARS, ILERS, ILRS, IRS, PRO0785
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GRIDHH
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first prot
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs34737051 C>T Conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs747311061 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs764500338 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs886037873 A>T Pathogenic Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs886037874 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0002161 Function Aminoacyl-tRNA editing activity IEA
GO:0004822 Function Isoleucine-tRNA ligase activity IBA 21873635
GO:0004822 Function Isoleucine-tRNA ligase activity IDA 8052601
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600709 5330 ENSG00000196305
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P41252
Protein name Isoleucine--tRNA ligase, cytoplasmic (EC 6.1.1.5) (Isoleucyl-tRNA synthetase) (IRS) (IleRS)
Protein function Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00133 tRNA-synt_1 17 → 639 tRNA synthetases class I (I, L, M and V) Family
PF08264 Anticodon_1 693 → 852 Anticodon-binding domain of tRNA ligase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver and muscle (at protein level). {ECO:0000269|PubMed:27426735}.
Sequence 
MLQQVPENINFPAEEEKILEFWTEFNCFQECLKQSKHKPKFTFYDGPPFATGLPHYGHIL
AGTIKDIVTRYAHQSGFHVDRRFGWDCHGLPVEYEIDKTLGIRGPEDVAKMGITEYNNQC
RAIVMRYSAEWKSTVSRLGRWIDFDNDYKTLYPQFMESVWWVFKQLYDKGLVYRGVKVMP
FSTACNTPLSNFESHQNYKDVQDPSVFVTFPLEEDETVSLVAWTTTPWTLPSNLAVCVNP
EMQYVKIKDVARGRLLILMEARLSALYKLESDYEILERFPGAYLKGKKYRPLFDYFLKCK
ENGAFTVLVDNYVKEEEGTGVVHQAPYFGAEDYRVCMDFNIIRKDSLPVCPVDASGCFTT
EVTDFAGQYVKDADKSIIRTLKEQGRLLVATTFTHSYPFCWRSDTPLIYKAVPSWFVRVE
NMVDQLLRNNDLCYWVPELVREKRFGNWLKDARDWTISRNRYWGTPIPLWVSDDFEEVVC
IGSVAELEELSGAKISDLHRESVDHLTIPSRCGKGSLHRISEVFDCWFESGSMPYAQVHY
PFENKREFEDAFPADFIAEGIDQTRGWFYTLLVLATALFGQPPFKNVIVNGLVLASDGQK
MSKRKKNYPDPVSIIQKYGADALRLYLINSPVVRAENLRFKEEGVRDVLKDVLLPWYNAY
RFLIQNVLRLQKEEEIEFLYNENTVRESPNITDRWILSFMQSLIGFFETEMAAYRLYTVV
PRLVKFVDILTNWYVRMNRRRLKGENGMEDCVMALETLFSVLLSLCRLMAPYTPFLTELM
YQNLKVLIDPVSVQDKDTLSIHYLMLPRVREELIDKKTESAVSQMQSVIELGRVIRDRKT
IPIKYPLKEIVVIHQDPEALKDIKSLEKYIIEELNVRKVTLSTDKNKYGIRLRAEPDHMV
LGKRLKGAFKAVMTSIKQLSSEELEQFQKTGTIVVEGHELHDEDIRLMYTFDQATGGTAQ
FEAHSDAQALVLLDVTPDQSMVDEGMAREVINRIQKLRKKCNLVPTDEITVYYKAKSEGT
YLNSVIESHTEFIFTTIKAPLKPYPVSPSDKVLIQEKTQLKGSELEITLTRGSSLPGPAC
AYVNLNICANGSEQGGVLLLENPKGDNRLDLLKLKSVVTSIFGVKNTELAVFHDETEIQN
QTDLLSLSGKTLCVTAGSAPSLINSSSTLLCQYINLQLLNAKPQECLMGTVGTLLLENPL
GQNGLTHQGLLYEAAKVFGLRSRKLKLFLNETQTQEITEDIPVKTLNMKTVYVSVLPTTA
DF
Sequence length 1262
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Aminoacyl-tRNA biosynthesis   Cytosolic tRNA aminoacylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY rs764500338, rs886037873, rs886037874, rs886037875, rs886037876, rs886037877, rs1554728327, rs747311061 27426735, 29903433, 29052218
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)		 27426735
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy GenCC
Show/Hide Text Mining Associations (21)
Associations from Text Mining
Disease Name Relationship Type References
Anemia Associate 29875423
Behcet Syndrome Associate 27123441
Breast Neoplasms Associate 17043687, 30229539
Carcinogenesis Associate 31666286
Carcinoma Hepatocellular Associate 36550445
Developmental Disabilities Associate 27891590, 38014478
Diabetic Retinopathy Associate 39348384
Epilepsy Associate 38014478
Growth Disorders Associate 27891590
HEM dysplasia Associate 30419932