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UniProt functional annotation for O08795 | ||
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| UniProt code: O08795. |
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| Organism: | |
Mus musculus (Mouse). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. |
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| Function: | |
Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:27462106, PubMed:9148925). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (PubMed:21685914). {ECO:0000269|PubMed:21685914, ECO:0000269|PubMed:27462106, ECO:0000269|PubMed:9148925}. |
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| Pathway: | |
Glycan metabolism; N-glycan metabolism. {ECO:0000269|PubMed:27462106}. |
| Subunit: | |
Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH) (PubMed:9148925, PubMed:27462106). Binds glycosylated PTPRC (PubMed:9148925). {ECO:0000269|PubMed:27462106, ECO:0000269|PubMed:9148925}. |
| Subcellular location: | |
Endoplasmic reticulum {ECO:0000255|PROSITE- ProRule:PRU10138}. |
| Tissue specificity: | |
Expressed in kidney (at protein level). {ECO:0000269|PubMed:21685914}. |
| Disruption phenotype: | |
Knockout mice exhibit early embryonic lethality by E11.5. Conditional ubiquitous or kidney-specidic knockdown results in polycystic liver and kidney phenotypes, respectively. {ECO:0000269|PubMed:21685914}. |
Annotations taken from UniProtKB at the EBI.