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Metazoan complexes |
Emili & Marcotte labs |
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Details of EXOSC3 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| EXOSC3 | RRP40 | Q9NQT5 | EXOS3_HUMAN | 51010 | ENSG00000107371 | Exosome complex component RRP40 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]: A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614678 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Exosc3 | Rrp40 | exos-3 | Sp-Exosc3... |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
EXOSC3 | EXOSC1 | 1 | EXOSC3 | EXOSC1 | cpx19 | yes | yes | no | Known |
EXOSC2 | EXOSC3 | 1 | EXOSC2 | EXOSC3 | cpx19 | yes | yes | yes | Known |
MPHOSPH6 | EXOSC3 | 1 | MPHOSPH6 | EXOSC3 | cpx19 | no | yes | no | Known |
EXOSC5 | EXOSC3 | 1 | EXOSC5 | EXOSC3 | cpx19 | yes | yes | yes | Known |
EXOSC10 | EXOSC3 | 1 | EXOSC10 | EXOSC3 | cpx19 | yes | yes | yes | Known |
EXOSC4 | EXOSC3 | 1 | EXOSC4 | EXOSC3 | cpx19 | yes | yes | yes | Known |
EXOSC7 | EXOSC3 | 1 | EXOSC7 | EXOSC3 | cpx19 | yes | yes | no | Known |
EXOSC9 | EXOSC3 | 1 | EXOSC9 | EXOSC3 | cpx19 | yes | yes | yes | Known |
EXOSC3 | EXOSC6 | 1 | EXOSC3 | EXOSC6 | cpx19 | yes | yes | no | Known |