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Details of KIAA1279 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| KIAA1279 | KBP | Q96EK5 | KBP_HUMAN | 26128 | ENSG00000198954 | KIF1-binding protein | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]: Characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to Hirschsprung disease syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609460 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Kbp | FBgn0031659 | --- | Sp-Hypp_2208 | ||||||