title: Analysis of the human VPS13 gene family.
abstract: The gene mutated in chorea-acanthocytosis (CHAC; approved gene symbol VPS13A) encodes chorein, a protein similar to yeast Vps13p. We detected several similar putative human proteins by BLAST analysis of chorein. We characterized the structure of three new genes encoding these CHAC-similar proteins, located on chromosomes 1p36, 8q22, and 15q21. The most similar gene in yeast to all four human genes is Vps13, and therefore the human genes were named VPS13A (CHAC, 9q21), VPS13B (8q22), VPS13C (15q21), and VPS13D (1p36). VPS13B has recently been reported as COH1, altered in Cohen syndrome. For each gene, we describe several alternative splicing variants; at least two transcripts per gene are major forms. The expression pattern of these genes is ubiquitous, with some tissue-specific differences between several transcript variants. Protein sequence comparisons suggest that intramolecular duplications have played an important role in the evolution of this gene family.
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, OX3 7BN Oxford, UK.
authors.forename: Antonio
authors.initials: A
authors.lastname: Velayos-Baeza
authors.forename: Andrea
authors.initials: A
authors.lastname: Vettori
authors.forename: Richard R
authors.initials: RR
authors.lastname: Copley
authors.forename: Carol
authors.initials: C
authors.lastname: Dobson-Stone
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D019143:Evolution, Molecular; D040461:Gene Components; D020440:Gene Duplication; D020869:Gene Expression Profiling; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics*; D010802:Phylogeny; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017385:Sequence Homology; D033921:Vesicular Transport Proteins
chemical_list: D008565:Membrane Proteins; D011506:Proteins; C429654:VPS13A protein, human; C475722:VPS13B protein, human; C495324:VPS13C protein, human; C495325:VPS13D protein, human; D033921:Vesicular Transport Proteins