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Details of AIMP1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| AIMP1 | EMAP2,SCYE1 | Q12904 | AIMP1_HUMAN | 9255 | ENSG00000164022 | Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 Endothelial monocyte-activating polypeptide 2 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Leukodystrophy, hypomyelinating, 3 (HLD3) [MIM:260600]: A severe autosomal recessive hypomyelinating leukodystrophy characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Note=The disease is caused by mutations affecting the gene represented in this entry. | 260600 | ||||||||
Phenotypes
Abdominal symptom, Abnormal CNS myelination, Abnormality of connective tissue, Abnormality of joint mobility, Abnormality of muscle morphology, Abnormality of prenatal development or birth, Abnormality of skeletal morphology, Abnormality of the abdomen, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the forebrain, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormal joint morphology, All, Arthrogryposis multiplex congenita, Congenital contractures, Death, Death in infancy, Diffuse cerebral sclerosis, Flexion contracture, Leukodystrophy, Morphological abnormality of the central nervous system, Nausea and vomiting, Onset and clinical course, Phenotypic abnormality, Premature birth, Projectile vomiting, Sudanophilic leukodystrophy, Vomiting.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Aimp1 | CG8235 | --- | Sp-Scye1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| RARS | AIMP1 | 1 | RARS | AIMP1 | cpx27 | yes | yes | no | Known |
| LARS | AIMP1 | 1 | LARS | AIMP1 | cpx27 | yes | yes | no | Known |
| AIMP2 | AIMP1 | 1 | AIMP2 | AIMP1 | cpx27 | yes | yes | no | Known |
| EPRS | AIMP1 | 1 | EPRS | AIMP1 | cpx27 | yes | yes | no | Known |
| DARS | AIMP1 | 1 | DARS | AIMP1 | cpx27 | yes | yes | no | Known |
| EEF1E1 | AIMP1 | 0.522662032 | EEF1E1 | AIMP1 | cpx27 | yes | yes | no | Known |
| KARS | AIMP1 | 1 | KARS | AIMP1 | cpx27 | yes | yes | no | Known |
| AIMP1 | IARS | 1 | AIMP1 | IARS | cpx27 | yes | yes | no | Known |
| AIMP1 | MARS | 1 | AIMP1 | MARS | cpx27 | yes | yes | no | Known |
| AIMP1 | QARS | 1 | AIMP1 | QARS | cpx27 | yes | yes | no | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| NUBP1 | AIMP1 | 0.216458492 | NUBP1 | AIMP1 |
| EIF4A2 | AIMP1 | 0.090076589 | EIF4A2 | AIMP1 |
| C19orf43 | AIMP1 | 0.093969007 | C19orf43 | AIMP1 |
| CIAPIN1 | AIMP1 | 0.141973141 | CIAPIN1 | AIMP1 |
| AIMP1 | HOMER1 | 0.113006108 | AIMP1 | HOMER1 |
| PTPN6 | AIMP1 | 0.072344157 | PTPN6 | AIMP1 |
| TWF1 | AIMP1 | 0.123092983 | TWF1 | AIMP1 |
| AIMP1 | MCFD2 | 0.070528498 | AIMP1 | MCFD2 |
| GOLPH3 | AIMP1 | 0.091941299 | GOLPH3 | AIMP1 |
| ATP6V1F | AIMP1 | 0.073215775 | ATP6V1F | AIMP1 |
| CORO1C | AIMP1 | 0.149766302 | CORO1C | AIMP1 |
| SNRPD3 | AIMP1 | 0.088474107 | SNRPD3 | AIMP1 |