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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 |
|
