background:
This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms and representing non-protein coding transcripts have been found for this gene. [provided by RefSeq, Aug 2013]
Function:
Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA). Has low protein phosphatase activity towards a serine-phosphorylated peptide derived from IGF2R (in vitro).
Subcellular Location:
Cytoplasm. Membrane. Endosome membrane.
Tissue Specificity:
Ubiquitous. Highly expressed in heart, lung, placenta, spleen, peripheral blood leukocytes, thymus, colon skeletal muscle, kidney and brain.
Similarity:
Belongs to the VPS29 family.
Database links:
Entrez Gene: 51699 Human
Entrez Gene: 56433 Mouse
Entrez Gene: 288666 Rat
Entrez Gene: 573437 Zebrafish
Omim: 606932 Human
SwissProt: Q5ZIL2 Chicken
SwissProt: Q9UBQ0 Human
SwissProt: Q9QZ88 Mouse
SwissProt: B2RZ78 Rat
SwissProt: Q7ZV68 Zebrafish
Unigene: 600114 Human
Unigene: 216528 Mouse
Unigene: 445844 Mouse
Unigene: 2547 Rat
Unigene: 76673 Zebrafish
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
