Mkks - McKusick-Kaufman syndrome Gene
Also Known as Bbs6; 1300013E18Rik
Species: Mus musculus
Summary
This gene encodes a protein which shares sequence similarity with Other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with Other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Mkks Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001141946.1 | NP_001135418.1 | molecular chaperone MKKS isoform 1 |
| NM_001286981.1 | NP_001273910.1 | molecular chaperone MKKS isoform 2 |
| NM_001286983.1 | NP_001273912.1 | molecular chaperone MKKS isoform 3 |
| NM_021527.2 | NP_067502.2 | molecular chaperone MKKS isoform 1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in ciliary basal body |
IDA
IDA: Inferred from direct assay
|
22446187 | MGI |
| located in kinociliary basal body |
IDA
IDA: Inferred from direct assay
|
22446187 | MGI |
| located in motile cilium |
IMP
IMP: Inferred from mutant phenotype
|
18299575 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
molecular chaperone MKKS McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin |
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