Biology:VPS13A
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Vacuolar protein sorting-associated protein 13A is a protein that in humans is encoded by the VPS13A gene.[1][2][3]
Function
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis. Alternative splicing of this gene results in multiple transcript variants.[3]
Model organisms
Model organisms have been used in the study of VPS13A function. A conditional knockout mouse line called Vps13atm1b(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[4] Male and female animals underwent a standardized phenotypic screen[5] to determine the effects of deletion.[6][7][8][9] Additional screens performed: - In-depth immunological phenotyping[10]
| Characteristic | Phenotype |
|---|---|
| All data available at.[5][10] | |
| Insulin | Normal |
| Homozygous viability at P14 | Normal |
| Homozygous Fertility | Abnormal |
| Body weight | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Haematology 16 Weeks | Normal |
| Peripheral blood leukocytes 16 Weeks | Normal |
| Heart weight | Normal |
| Cytotoxic T Cell Function | Normal |
| Spleen Immunophenotyping | Normal |
| Mesenteric Lymph Node Immunophenotyping | Normal |
| Bone Marrow Immunophenotyping | Normal |
| Epidermal Immune Composition | Normal |
References
- ↑ "Chorea-acanthocytosis: genetic linkage to chromosome 9q21". American Journal of Human Genetics 61 (4): 899–908. Oct 1997. doi:10.1086/514876. PMID 9382101.
- ↑ "A conserved sorting-associated protein is mutant in chorea-acanthocytosis". Nature Genetics 28 (2): 119–20. Jun 2001. doi:10.1038/88821. PMID 11381253.
- ↑ 3.0 3.1 "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23230.
- ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
- ↑ 5.0 5.1 "International Mouse Phenotyping Consortium". http://www.mousephenotype.org/data/search?q=Vps13a#fq=*:*&facet=gene.
- ↑ "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. Jun 2011. doi:10.1038/nature10163. PMID 21677750.
- ↑ "Mouse library set to be knockout". Nature 474 (7351): 262–3. Jun 2011. doi:10.1038/474262a. PMID 21677718.
- ↑ "A mouse for all reasons". Cell 128 (1): 9–13. Jan 2007. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. Jul 2013. doi:10.1016/j.cell.2013.06.022. PMID 23870131.
- ↑ 10.0 10.1 "Infection and Immunity Immunophenotyping (3i) Consortium". http://www.immunophenotyping.org/data/search?keys=Vps13a&field_gene_construct_tid=All.
Further reading
- "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 6 (1): 63–70. Feb 1999. doi:10.1093/dnares/6.1.63. PMID 10231032.
- "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America 97 (7): 3491–6. Mar 2000. doi:10.1073/pnas.97.7.3491. PMID 10737800. Bibcode: 2000PNAS...97.3491D.
- "The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis". Nature Genetics 28 (2): 121–2. Jun 2001. doi:10.1038/88825. PMID 11381254.
- "Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula". Movement Disorders 18 (4): 403–7. Apr 2003. doi:10.1002/mds.10361. PMID 12671946.
- "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology 22 (6): 707–16. Jun 2004. doi:10.1038/nbt971. PMID 15146197.
- "Analysis of the human VPS13 gene family". Genomics 84 (3): 536–49. Sep 2004. doi:10.1016/j.ygeno.2004.04.012. PMID 15498460.
- "Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis". Neurogenetics 6 (3): 151–8. Sep 2005. doi:10.1007/s10048-005-0220-9. PMID 15918062.
External links
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