Sequence Detail

ID/Version

Q80TY5 E9QKX5 (UniProt | EBI)

Last sequence update: 2017-10-25
Last annotation update: 2024-05-29

Sequence description from provider

RecName: Full=Intermembrane lipid transfer protein VPS13B {ECO:0000305};AltName: Full=Cohen syndrome protein 1 homolog;AltName: Full=Vacuolar protein sorting-associated protein 13B;

Provider

SWISS-PROT

Sequence

Polypeptide 3993 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Vps13b	vacuolar protein sorting 13B	29	96	1	36

Sequence references in MGI

J:83413 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Feb 28;10(1):35-48
J:285279 Kim MJ, et al., Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse. Exp Neurobiol. 2019 Aug 31;28(4):485-494
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:296007 Lhussiez V, et al., Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors. Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):18
J:296169 Da Costa R, et al., Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking. Cell Mol Life Sci. 2020 Feb;77(3):511-529
J:326186 Koike S, et al., SNAREs define targeting specificity of trafficking vesicles by combinatorial interaction with tethering factors. Nat Commun. 2019 Apr 8;10(1):1608