| Type | Description |
|---|---|
| Definition | isoleucyl-tRNA synthetase |
| Date | Results | Publications |
|---|---|---|
| 2019-04-27 11:41:00 | Our report presents new evidence that recessive mutations inIARSgene are associated with characteristic clinical phenotype suchas infantile hepatopathy, growth retardation, facial dysmorphism,hypotonia, intellectual disability with no speech . | 29052218 |
| 2018-01-13 10:14:00 | bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology | 27891590 |
| 2017-05-13 13:42:00 | Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy | 27426735 |
| 2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | GRIDHH, IARS1, ILERS, ILRS, IRS, PRO0785 |
| Gene |
UniProtKB-ID:
SYIC_HUMAN,
Q7L4K8_HUMAN,
Q6P0M4_HUMAN
UniprotKB:
P41252,
Q7L4K8,
Q6P0M4
UniParc:
UPI00001AE555,
UPI0000141335,
UPI0000237C8B
EMBL:
BC008318,
BX537429,
AL136097,
AK293014,
BC065552,
D28473,
CH471089,
U04953
Ensembl:
ENSG00000196305
KO:
hsa:3376
|
| Nucleutide sequences |
EMBL-CDS:
AAA80153.1,
BAF85703.1,
EAW62813.1,
BAA05835.1,
CAD97671.1,
AAH08318.2,
AAH65552.1
Ensembl_TRS:
ENST00000375643
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000364794
RefSeq:
NP_002152.2,
NP_001365507.1,
NP_001365501.1,
NP_001365511.1,
NP_001365503.1,
NP_001365500.1,
NP_001361230.1,
NP_001365513.1,
NP_001365508.1,
NP_001365509.1,
NP_001365512.1,
NP_001365514.1,
NP_001365502.1,
NP_001365505.1,
NP_001361229.1,
NP_001365515.1,
NP_001361228.1,
NP_001365498.1,
NP_038203.2,
NP_001365504.1,
NP_001365506.1
|
| Others |
UniRef100:
UniRef100_Q6P0M4,
UniRef100_P41252,
UniRef100_Q9P1N9
UniRef90:
UniRef90_F1LS86,
UniRef90_P41252,
UniRef90_A0A2K6FFS0
UniRef50:
UniRef50_Q8BU30,
UniRef50_P41252
UniGene:
Hs.445403
CCDS:
CCDS6694.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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