UniProt functional annotation for Q80UW2



	UniProt functional annotation for Q80UW2

UniProt code: Q80UW2.

Organism: Mus musculus (Mouse).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.

Function: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotranslocated into the cytosol. Able to recognize and bind denatured glycoproteins, preferentially those of the high-mannose type. {ECO:0000269|PubMed:12140560, ECO:0000269|PubMed:14990996, ECO:0000269|PubMed:15723043, ECO:0000269|PubMed:17215248, ECO:0000269|PubMed:17720138}.

Pathway: Protein modification; protein ubiquitination.

Subunit: Component of the SCF(FBXO2) complex consisting of CUL1, RBX1, SKP1 and FBXO2. Predominantly detected as heterodimer with SKP1; the heterodimer with SKP1 is not part of the SCF(FBXO2) complex. {ECO:0000269|PubMed:12140560, ECO:0000269|PubMed:14990996, ECO:0000269|PubMed:17215248}.

Subcellular location: Cytoplasm. Microsome membrane; Peripheral membrane protein; Cytoplasmic side.

Tissue specificity: Detected in brain and cochlea, in epithelial support cells and hair cells of the organ of Corti (at protein level). {ECO:0000269|PubMed:17215248, ECO:0000269|PubMed:17494702}.

Disruption phenotype: No visible phenotype at birth. Mice are viable and fertile, but after two to four months, gradual hearing loss sets in, due to degeneration of epithelial support cells and hair cells of the organ of Corti and spiral ganglion neurodegeneration. {ECO:0000269|PubMed:17494702}.

Annotations taken from UniProtKB at the EBI.


Organism:		Mus musculus (Mouse).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.



Function:		Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotranslocated into the cytosol. Able to recognize and bind denatured glycoproteins, preferentially those of the high-mannose type. {ECO:0000269\|PubMed:12140560, ECO:0000269\|PubMed:14990996, ECO:0000269\|PubMed:15723043, ECO:0000269\|PubMed:17215248, ECO:0000269\|PubMed:17720138}.


Pathway:		Protein modification; protein ubiquitination.
Subunit:		Component of the SCF(FBXO2) complex consisting of CUL1, RBX1, SKP1 and FBXO2. Predominantly detected as heterodimer with SKP1; the heterodimer with SKP1 is not part of the SCF(FBXO2) complex. {ECO:0000269\|PubMed:12140560, ECO:0000269\|PubMed:14990996, ECO:0000269\|PubMed:17215248}.
Subcellular location:		Cytoplasm. Microsome membrane; Peripheral membrane protein; Cytoplasmic side.
Tissue specificity:		Detected in brain and cochlea, in epithelial support cells and hair cells of the organ of Corti (at protein level). {ECO:0000269\|PubMed:17215248, ECO:0000269\|PubMed:17494702}.
Disruption phenotype:		No visible phenotype at birth. Mice are viable and fertile, but after two to four months, gradual hearing loss sets in, due to degeneration of epithelial support cells and hair cells of the organ of Corti and spiral ganglion neurodegeneration. {ECO:0000269\|PubMed:17494702}.