Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.
In multicellular organisms, the delivery of proteins to lysosomes is essential. Many of the genes necessary for this process have first been identified by their requirement for vacuolar delivery in yeast. A subset of these genes, the four class C vps genes, is necessary for the delivery of endocytic and biosynthetic cargo in yeast, and also in Drosophila. Here, we describe the sequence and expression pattern of four human homologs of these genes. This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases.
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD 20892, USA.
M
M
Huizing
A
A
Didier
J
J
Walenta
Y
Y
Anikster
W A
WA
Gahl
H
H
Krämer
D000595:Amino Acid Sequence; D015152:Blotting, Northern; D002352:Carrier Proteins / Q000235:genetics*; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010802:Phylogeny; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA; D014018:Tissue Distribution; D033921:Vesicular Transport Proteins
D002352:Carrier Proteins; D018076:DNA, Complementary; D008565:Membrane Proteins; D011506:Proteins; D012333:RNA, Messenger; C424438:VPS11 protein, human; C424439:VPS16 protein, human; C424437:VPS18 protein, human; C424440:VPS33A protein, human; D033921:Vesicular Transport Proteins