COH1 Blocking Peptide | VPS13B blocking peptide

COH1 Peptide

Cat. Num. AAA153087

• Gene Names: VPS13B; CHS1; COH1
• Applications: Blocking (BL)
• Synonyms: COH1; COH1 Peptide; CHS1; KIAA0532; Vacuolar protein sorting-associated protein 13B; Cohen syndrome protein 1; vacuolar protein sorting 13 homolog B (yeast); VPS13B blocking peptide

• Form/Format: Liquid
• Concentration: 200 ug/mL (varies by lot)
• Sequence Length: 863

• Applicable Applications for VPS13B blocking peptide: Blocking (BL)
• Application Notes: COH1 peptide is used for blocking the activity of COH1 antibody.
• Species: Human
• Buffer: PBS pH 7.2 (10 mM NaH2PO4, 10 mM Na2HPO4, 130 mM NaCl) containing 0.1% bovine serum albumin and 0.02% sodium azide
• Location: 17 amino acid peptide near the amino terminus of human COH1.
• Preparation and Storage: Store COH1 peptide at -20 degree C, stable for one year.

NCBI and Uniprot Product Information

• NCBI GI #: 35493725
• NCBI GeneID: 157680
• NCBI Accession #: NP_056058
• NCBI GenBank Nucleotide #: NM_015243.2
• UniProt Accession #: Q7Z7G8; Q709C6; Q709C7; Q7Z7G4; Q7Z7G5; Q7Z7G6; Q7Z7G7; Q8NB77; Q9NWV1; Q9Y4E7; C9JD30
• Molecular Weight: 448,536 Da
• NCBI Official Full Name: vacuolar protein sorting-associated protein 13B isoform 3
• NCBI Official Synonym Full Names: vacuolar protein sorting 13 homolog B (yeast)
• NCBI Official Symbol: VPS13B
• NCBI Official Synonym Symbols: CHS1; COH1
• NCBI Protein Information: vacuolar protein sorting-associated protein 13B
• UniProt Protein Name: Vacuolar protein sorting-associated protein 13B
• Protein Family: Vacuolar protein sorting-associated protein
• UniProt Gene Name: VPS13B
• UniProt Synonym Gene Names: CHS1; COH1; KIAA0532
• UniProt Entry Name: VP13B_HUMAN

NCBI Description

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Uniprot Description

VPS13B: May be involved in protein sorting in post Golgi membrane traffic. Defects in VPS13B are a cause of Cohen syndrome (COH1). COH1 is a rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. Belongs to the VPS13 family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Vesicle; Membrane protein, integral

Chromosomal Location of Human Ortholog: 8q22.2

Biological Process: protein transport

Disease: Cohen Syndrome