VPS33B

Name

VPS33B late endosome and lysosome associated

Type

protein-coding

Position

90,998,673–91,022,603 (−)

Aliases

KDIDAR, PFIC12

Ensembl

ENSG00000184056

RefSeq RNA

NM_001289148.1, NM_001289149.1, NM_018668.5, XM_005254887.2, XM_011521449.3

RefSeq protein

NP_001276077.1, NP_001276078.1, NP_061138.3, XP_005254944.1, XP_011519751.1

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].

via MyGene.info

Gene · Ensembl

VPS33B late endosome and lysosome associated

Symbol

VPS33B

Biotype

Protein coding

Organism

Homo sapiens

Location

15:90,997,635-91,022,614

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

via Wikidata · CC0