Enables MHC class I protein binding activity and ubiquitin protein ligase binding activity. Acts upstream of or within odontoblast differentiation. Located in several cellular components, including cytoplasmic ribonucleoprotein granule; microtubule cytoskeleton; and nuclear envelope lumen. Implicated in complex cortical dysplasia with other brain malformations 6 and congenital symmetric circumferential skin creases 1.
(Alliance,
HGNC:20778
)
Enables MHC class I protein binding activity and ubiquitin protein ligase binding activity. Acts upstream of or within odontoblast differentiation. Located in several cellular components, including cytoplasmic ribonucleoprotein granule; microtubule cytoskeleton; and nuclear envelope lumen. Implicated in complex cortical dysplasia with other brain malformations 6 and congenital symmetric circumferential skin creases 1.
Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)
Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
Homo sapiens (Human)
Gene name
Score
OMIM
OMIM Phenotype
DO term
Complementation?
Transgene?
Functional Complementation Data
Functional complementation data is computed by FlyBase using a combination of the orthology data
obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the
literature.
NCBI Gene
-
Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
