ID:SPE39_HUMAN DESCRIPTION: RecName: Full=Spermatogenesis-defective protein 39 homolog; Short=hSPE-39; AltName: Full=VPS33B-interacting protein in apical-basolateral polarity regulator; AltName: Full=VPS33B-interacting protein in polarity and apical restriction; FUNCTION: May play a role in vesicular trafficking during spermatogenesis (By similarity). Plays a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes. May play a role in epithelial polarization through stabilization of apical membrane protein content, possibly via the RAB11A-dependent apical recycling pathway. Also involved in direct or indirect transcriptional regulation of E-cadherin. SUBUNIT: Associates with the homotypic fusion and vacuole protein sorting (HOPS) complex. Interacts with VPS33A and VPS33B. Interacts with RAB11A. INTERACTION: Q91W86:Vps11 (xeno); NbExp=3; IntAct=EBI-749080, EBI-2527812; Q920Q4:Vps16 (xeno); NbExp=4; IntAct=EBI-749080, EBI-775797; Q8R307:Vps18 (xeno); NbExp=5; IntAct=EBI-749080, EBI-2527788; Q9H267:VPS33B; NbExp=17; IntAct=EBI-749080, EBI-749072; P49754:VPS41; NbExp=4; IntAct=EBI-749080, EBI-2130459; SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cytoplasmic vesicle (By similarity). Early endosome. Recycling endosome. Late endosome. Note=Colocalizes in clusters with VPS33B at cytoplasmic organelles (By similarity). DISEASE: Defects in VIPAS39 are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome type 2 (ARCS2) [MIM:613404]. ARCS2 is an autosomal recessive multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. Note=In liver, CEACAM5 and ABCB11 are mislocalized and E-cadherin expression is decreased. SIMILARITY: Belongs to the SPE39 family. SEQUENCE CAUTION: Sequence=AAD09624.1; Type=Erroneous gene model prediction; Sequence=BAB14951.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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 Q9H9C1
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006886 intracellular protein transport GO:0007283 spermatogenesis GO:0008333 endosome to lysosome transport GO:0015031 protein transport GO:0017185 peptidyl-lysine hydroxylation GO:0030154 cell differentiation GO:0030199 collagen fibril organization GO:0032963 collagen metabolic process GO:0043687 post-translational protein modification GO:0097352 autophagosome maturation
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
