Entrez Summary: This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017].
UniProt Summary: Probable role in protein transport. May regulate growth factor-induced mitogenic signaling. {ECO:0000269|PubMed:16412388, ECO:0000269|PubMed:16479011}.
Pfam DomainsGO Terms
Pfam Domains
VHS
GAT
GO Terms
clathrin binding
negative regulation of mitotic nuclear division
negative regulation of nuclear division
cell
regulation of mitotic nuclear division
regulation of nuclear division
negative regulation of mitotic cell cycle
negative regulation of cell cycle process
negative regulation of organelle organization
protein kinase binding
negative regulation of cell cycle
regulation of mitotic cell cycle
negative regulation of cellular component organization
regulation of cell cycle process
intracellular protein transport
regulation of cell cycle
regulation of organelle organization
protein transport
intracellular transport
peptide transport
amide transport
cellular protein localization
cellular macromolecule localization
establishment of protein localization
establishment of localization in cell
nitrogen compound transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)