Analysis of the human VPS13 gene family.
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,...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
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2004
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| _version_ | 1797096985027674112 |
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| author | Velayos-Baeza, A Vettori, A Copley, R Dobson-Stone, C Monaco, A |
| author_facet | Velayos-Baeza, A Vettori, A Copley, R Dobson-Stone, C Monaco, A |
| author_sort | Velayos-Baeza, A |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T04:49:19Z |
| format | Journal article |
| id | oxford-uuid:d46baebb-dfb9-43fa-99b8-6d68443cab8e |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:49:19Z |
| publishDate | 2004 |
| record_format | dspace |
| spelling | oxford-uuid:d46baebb-dfb9-43fa-99b8-6d68443cab8e2022-03-27T08:18:15ZAnalysis of the human VPS13 gene family.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:d46baebb-dfb9-43fa-99b8-6d68443cab8eEnglishSymplectic Elements at Oxford2004Velayos-Baeza, AVettori, ACopley, RDobson-Stone, CMonaco, AThe 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. |
| spellingShingle | Velayos-Baeza, A Vettori, A Copley, R Dobson-Stone, C Monaco, A Analysis of the human VPS13 gene family. |
| title | Analysis of the human VPS13 gene family. |
| title_full | Analysis of the human VPS13 gene family. |
| title_fullStr | Analysis of the human VPS13 gene family. |
| title_full_unstemmed | Analysis of the human VPS13 gene family. |
| title_short | Analysis of the human VPS13 gene family. |
| title_sort | analysis of the human vps13 gene family |
| work_keys_str_mv | AT velayosbaezaa analysisofthehumanvps13genefamily AT vettoria analysisofthehumanvps13genefamily AT copleyr analysisofthehumanvps13genefamily AT dobsonstonec analysisofthehumanvps13genefamily AT monacoa analysisofthehumanvps13genefamily |