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Details of YARS gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| YARS | --- | P54577 | SYYC_HUMAN | 8565 | ENSG00000134684 | Tyrosine--tRNA ligase, cytoplasmic | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Charcot-Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) [MIM:608323]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type C is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Note=The disease is caused by mutations affecting the gene represented in this entry. | 608323 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of limb bone morphology, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the foot, Abnormality of the lower limb, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, All, Amyotrophy, Autosomal dominant inheritance, Axonal regeneration, Distal amyotrophy, Distal sensory impairment, Limb muscle weakness, Mode of inheritance, Muscle weakness, Onset, Onset and clinical course, Peripheral axonal degeneration, Peripheral neuropathy, Phenotypic abnormality, Sensory impairment, Upper limb muscle weakness.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Yars | Aats-tyr | --- | Sp-Yars | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| YARS | NAA10 | 0.183023684 | YARS | NAA10 | cpx86 | no | no | no | Novel |
| YARS | NAA15 | 0.213829967 | YARS | NAA15 | cpx86 | no | no | no | Novel |
| YARS | NAA16 | 0.0516681 | YARS | NAA16 | cpx86 | no | no | no | Novel |
| YARS | YARS2 | 0.215140079 | YARS | YARS2 | cpx86 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| YARS | PROSC | 0.222788401 | YARS | PROSC |
| ACTB | YARS | 0.084613128 | ACTB | YARS |
| YARS | TATDN1 | 0.100698825 | YARS | TATDN1 |
| CLUH | YARS | 0.145315354 | CLUH | YARS |
| YARS | G3BP2 | 0.074747944 | YARS | G3BP2 |
| YARS | EIF1B | 0.110377999 | YARS | EIF1B |
| YARS | HNRNPH2 | 0.071527762 | YARS | HNRNPH2 |
| CPOX | YARS | 0.103518586 | CPOX | YARS |
| WDR48 | YARS | 0.070255248 | WDR48 | YARS |
| ACTG1 | YARS | 0.07653154 | ACTG1 | YARS |
| YARS | DDB1 | 0.071980024 | YARS | DDB1 |
| EEF1A1 | YARS | 0.109007978 | EEF1A1 | YARS |
| SNRPA | YARS | 0.08289383 | SNRPA | YARS |
| AHNAK | YARS | 0.106988748 | AHNAK | YARS |