Description: Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA. RefSeq Summary (NM_004896): This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr10:70,883,908-70,932,616 Size: 48,709 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr10:70,884,034-70,931,025 Size: 46,992 Coding Exon Count: 9
ID:VP26A_HUMAN DESCRIPTION: RecName: Full=Vacuolar protein sorting-associated protein 26A; AltName: Full=Vesicle protein sorting 26A; Short=hVPS26; 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). SUBUNIT: Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2. Interacts directly with VPS35. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. Interacts with ECM29. SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane; Peripheral membrane protein. INDUCTION: Down-regulated in Alzheimer disease. No polymorphism or variant is however associated with Alzheimer disease for VPS26A. SIMILARITY: Belongs to the VPS26 family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): VPS26A CDC HuGE Published Literature: VPS26A Positive Disease Associations: Diabetes Mellitus, Type 2 Related Studies:
Diabetes Mellitus, Type 2 Jaspal S Kooner et al. Nature genetics 2011, Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci., Nature genetics.
[PubMed 21874001]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75436
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0008565 protein transporter activity
Biological Process: GO:0006886 intracellular protein transport GO:0007165 signal transduction GO:0015031 protein transport GO:0016055 Wnt signaling pathway GO:0016241 regulation of macroautophagy GO:0042147 retrograde transport, endosome to Golgi GO:1990126 retrograde transport, endosome to plasma membrane
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