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Vacuolar Protein Sorting 13B (VPS13B)

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CHS1; COH1; Cohen Syndrome 1; Vacuolar protein sorting-associated protein 13B

Vacuolar Protein Sorting 13B (VPS13B)
CCC Q113
HGNC 2183
MGI 1916380
PubMed 24311531
RGD 1311183
UniProt Q7Z7G8
Wiki VPS13B
The COH1 gene has a complicated pattern of alternative splicing which potentially leads to the use of 4 different termination codons and to 3 additional in-frame, alternatively spliced forms.The longest COH1 transcript encodes a deduced 4,022-amino acid protein with a complex domain structure, including 10 predicted transmembrane domains, a potential vacuolar targeting motif, endoplasmic reticulum retention signal in the C terminus, and 2 peroxisomal matrix protein targeting signal-2 (PTS2) consensus sequences, one close to the N terminus and the other close to the C terminus. COH1 shows strong homology to the Saccharomyces cerevisiae VPS13 protein, suggesting a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Vacuolar Protein Sorting 13B (VPS13B) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Vacuolar Protein Sorting 13B (VPS13B) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Vacuolar Protein Sorting 13B (VPS13B) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Vacuolar Protein Sorting 13B (VPS13B) CLIA Kit Customized Service Offer
n/a ELISA Kit for Vacuolar Protein Sorting 13B (VPS13B) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Vacuolar Protein Sorting 13B (VPS13B) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Vacuolar Protein Sorting 13B (VPS13B) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Vacuolar Protein Sorting 13B (VPS13B) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Vacuolar Protein Sorting 13B (VPS13B) CLIA Kit Customized Service Offer
n/a ELISA Kit for Vacuolar Protein Sorting 13B (VPS13B) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Vacuolar Protein Sorting 13B (VPS13B) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Vacuolar Protein Sorting 13B (VPS13B) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Vacuolar Protein Sorting 13B (VPS13B) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Vacuolar Protein Sorting 13B (VPS13B) CLIA Kit Customized Service Offer
n/a ELISA Kit for Vacuolar Protein Sorting 13B (VPS13B) ELISA Kit Customized Service Offer
  1. "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport."Am. J. Hum. Genet. 72:1359-1369(2003) [PubMed] [Europe PMC] [Abstract]
  2. "Analysis of the human VPS13 gene family."Genomics 84:536-549(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 8." Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
  5. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
  6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  7. "Delineation of Cohen syndrome following a large-scale genotype-phenotype screen."Am. J. Hum. Genet. 75:122-127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome."Am. J. Hum. Genet. 75:138-145(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Cohen syndrome in the Ohio Amish."Am. J. Med. Genet. A 128:23-28(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome."J. Med. Genet. 43:E22-E22(2006) [PubMed] [Europe PMC] [Abstract]
  11. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  12. "Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1."Hum. Mutat. 30:E404-E420(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Diagnostic exome sequencing in persons with severe intellectual disability."N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]