ID:VPS35_HUMAN DESCRIPTION: RecName: Full=Vacuolar protein sorting-associated protein 35; Short=hVPS35; AltName: Full=Maternal-embryonic 3; AltName: Full=Vesicle protein sorting 35; 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 VPS26A and VPS26B. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. Interacts with GOLPH3. SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus, testis, ovary, small intestine, kidney and colon. DISEASE: Defects in VPS35 are the cause of Parkinson disease type 17 (PARK17) [MIM:614203]. PARK17 is an autosomal dominant, adult- onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. SIMILARITY: Belongs to the VPS35 family. SEQUENCE CAUTION: Sequence=AAG01989.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91137.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14626.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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 Q96QK1
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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 GO:0031748 D1 dopamine receptor binding
Biological Process: GO:0007040 lysosome organization GO:0010628 positive regulation of gene expression GO:0010629 negative regulation of gene expression GO:0010821 regulation of mitochondrion organization GO:0015031 protein transport GO:0016055 Wnt signaling pathway GO:0016241 regulation of macroautophagy GO:0031647 regulation of protein stability GO:0031648 protein destabilization GO:0032268 regulation of cellular protein metabolic process GO:0032463 negative regulation of protein homooligomerization GO:0033365 protein localization to organelle GO:0042147 retrograde transport, endosome to Golgi GO:0043653 mitochondrial fragmentation involved in apoptotic process GO:0045056 transcytosis GO:0050728 negative regulation of inflammatory response GO:0050882 voluntary musculoskeletal movement GO:0060161 positive regulation of dopamine receptor signaling pathway GO:0060548 negative regulation of cell death GO:0061357 positive regulation of Wnt protein secretion GO:0090141 positive regulation of mitochondrial fission GO:0090263 positive regulation of canonical Wnt signaling pathway GO:0090326 positive regulation of locomotion involved in locomotory behavior GO:0099074 mitochondrion to lysosome transport GO:0099639 neurotransmitter receptor transport, endosome to plasma membrane GO:1901215 negative regulation of neuron death GO:1902823 negative regulation of late endosome to lysosome transport GO:1902950 regulation of dendritic spine maintenance GO:1903181 positive regulation of dopamine biosynthetic process GO:1903364 positive regulation of cellular protein catabolic process GO:1903828 negative regulation of cellular protein localization GO:1905166 negative regulation of lysosomal protein catabolic process GO:1905606 regulation of presynapse assembly GO:1990126 retrograde transport, endosome to plasma membrane GO:2000331 regulation of terminal button organization
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
