Metazoan complexes |
|
Emili & Marcotte labs |
Please wait while page loads....
- Home
-
-
-
-
-
-
-
- Download
- Help
- Contact
Details of SUMO1 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| SUMO1 | SMT3C,SMT3H3,UBL1 | P63165 | SUMO1_HUMAN | 7341 | ENSG00000116030 | Small ubiquitin-related modifier 1 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Non-syndromic orofacial cleft 10 (OFC10) [MIM:613705]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberation involving SUMO1 is the cause of OFC10. Translocation t(28)(q33.1q24.3). The breakpoint occurred in the SUMO1 gene and resulted in haploinsufficiency confirmed by protein assays. | 613705 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Sumo1 | --- | --- | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
UBE2I | SUMO1 | 1 | UBE2I | SUMO1 | cpx263 | no | yes | yes | Known |