VPS13B

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.

Full Name

vacuolar protein sorting 13B

Function

Mediates the transfer of lipids between membranes at organelle contact sites (By similarity).
Binds phosphatidylinositol 3-phosphate (By similarity).
Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:30962439, PubMed:24334764, PubMed:32375900).
Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity).
Plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (PubMed:21865173).
Plays a role in the development of the nervous system, and may be required for neuron projection development (PubMed:25492866, PubMed:32560273).
May also play a role during adipose tissue development (PubMed:26358774).
Required for maintenance of the ocular lens (By similarity).

Biological Process

Biological Process acrosome assembly Source:UniProtKB
Biological Process adipose tissue development Source:UniProtKB1 Publication
Biological Process central nervous system development Source:UniProtKB
Biological Process Golgi organization Source:UniProtKB1 Publication
Biological Process Golgi reassembly Source:UniProtKB
Biological Process lipid transport Source:UniProtKB-KW
Biological Process maintenance of lens transparency Source:UniProtKB
Biological Process nervous system development Source:UniProtKB1 Publication
Biological Process neuron projection development Source:UniProtKB1 Publication
Biological Process slow endocytic recycling Source:UniProtKB1 Publication
Biological Process vesicle-mediated transport Source:UniProtKB1 Publication

Cellular Location

Recycling endosome membrane
Cytoplasmic vesicle, secretory vesicle, acrosome membrane
Golgi apparatus, cis-Golgi network membrane
Endoplasmic reticulum-Golgi intermediate compartment membrane
Golgi apparatus, trans-Golgi network membrane
Early endosome membrane
Lysosome membrane
Localizes to proacrosomal and acrosomal vesicles and not the Golgi apparatus during acrosome formation.

Involvement in disease

Cohen syndrome (COH1):
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.