Alpha-tocopherol transfer protein

Tocopherol (alpha) transfer protein
PDB rendering based on 1oip.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1OIP​, 1OIZ​, 1R5L​
Identifiers
Symbols	TTPA ; ATTP; AVED; TTP1; alphaTTP
External IDs	OMIM: 600415 MGI: 1354168 HomoloGene: 37295 GeneCards: TTPA Gene
Gene ontology Molecular function • transporter activity • protein binding • phosphatidylinositol-4,5-bisphosphate binding • vitamin E binding • phosphatidylinositol-3,4-bisphosphate binding Cellular component • late endosome • cytosol Biological process • embryonic placenta development • lipid metabolic process • transport • response to nutrient • response to pH • response to toxic substance • vitamin E metabolic process • intermembrane transport • vitamin transport • intracellular pH reduction • negative regulation of cell death • negative regulation of establishment of blood-brain barrier Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7274	50500
Ensembl	ENSG00000137561	ENSMUSG00000073988
UniProt	P49638	Q8BWP5
RefSeq (mRNA)	NM_000370	NM_015767
RefSeq (protein)	NP_000361	NP_056582
Location (UCSC)	Chr 8: 63.05 – 63.09 Mb	Chr 4: 20.01 – 20.03 Mb
PubMed search

Alpha-tocopherol transfer protein is a protein that in humans is encoded by the TTPA gene.^[1][2][3]

See also

• Familial isolated vitamin E deficiency

References

1. Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M (May 1995). "Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein". Nat Genet 9 (2): 141–5. doi:10.1038/ng0295-141. PMID 7719340.
2. Arita M, Sato Y, Miyata A, Tanabe T, Takahashi E, Kayden HJ, Arai H, Inoue K (Apr 1995). "Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization". Biochem J 306 (2): 437–43. PMC 1136538. PMID 7887897.
3. "Entrez Gene: TTPA tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)".

Further reading

• Gotoda T, Arita M, Arai H; et al. (1995). "Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.". N. Engl. J. Med. 333 (20): 1313–8. doi:10.1056/NEJM199511163332003. PMID 7566022.
• Ben Hamida C, Doerflinger N, Belal S; et al. (1994). "Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.". Nat. Genet. 5 (2): 195–200. doi:10.1038/ng1093-195. PMID 8252047.
• Hentati A, Deng HX, Hung WY; et al. (1996). "Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.". Ann. Neurol. 39 (3): 295–300. doi:10.1002/ana.410390305. PMID 8602747.
• Cavalier L, Ouahchi K, Kayden HJ; et al. (1998). "Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.". Am. J. Hum. Genet. 62 (2): 301–10. doi:10.1086/301699. PMC 1376876. PMID 9463307.
• Schuelke M, Mayatepek E, Inter M; et al. (1999). "Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.". J. Pediatr. 134 (2): 240–4. doi:10.1016/S0022-3476(99)70424-5. PMID 9931538.
• Cellini E, Piacentini S, Nacmias B; et al. (2003). "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.". Arch. Neurol. 59 (12): 1952–3. doi:10.1001/archneur.59.12.1952. PMID 12470185.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Meier R, Tomizaki T, Schulze-Briese C; et al. (2003). "The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein.". J. Mol. Biol. 331 (3): 725–34. doi:10.1016/S0022-2836(03)00724-1. PMID 12899840.
• Min KC, Kovall RA, Hendrickson WA (2004). "Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency.". Proc. Natl. Acad. Sci. U.S.A. 100 (25): 14713–8. doi:10.1073/pnas.2136684100. PMC 299775. PMID 14657365.
• Morley S, Panagabko C, Shineman D; et al. (2004). "Molecular determinants of heritable vitamin E deficiency.". Biochemistry 43 (14): 4143–9. doi:10.1021/bi0363073. PMID 15065857.
• Müller-Schmehl K, Beninde J, Finckh B; et al. (2004). "Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta.". Free Radic. Res. 38 (4): 413–20. doi:10.1080/10715760310001659611. PMID 15190938.
• Mariotti C, Gellera C, Rimoldi M; et al. (2004). "Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.". Neurol. Sci. 25 (3): 130–7. doi:10.1007/s10072-004-0246-z. PMID 15300460.
• Wolf AT, Medcalf RL, Jern C (2005). "The t-PA -7351C>T enhancer polymorphism decreases Sp1 and Sp3 protein binding affinity and transcriptional responsiveness to retinoic acid.". Blood 105 (3): 1060–7. doi:10.1182/blood-2003-12-4383. PMID 15466927.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Klein RL, Semler AJ, Baynes JW; et al. (2005). "Glycation does not alter LDL-induced secretion of tissue plasminogen activator and plasminogen activator inhibitor-1 from human aortic endothelial cells.". Ann. N. Y. Acad. Sci. 1043: 379–89. doi:10.1196/annals.1333.044. PMID 16037259.
• Qian J, Atkinson J, Manor D (2006). "Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein.". Biochemistry 45 (27): 8236–42. doi:10.1021/bi060522c. PMID 16819822.
• Attia J, Thakkinstian A, Wang Y; et al. (2007). "The PAI-1 4G/5G gene polymorphism and ischemic stroke: an association study and meta-analysis.". Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 16 (4): 173–9. doi:10.1016/j.jstrokecerebrovasdis.2007.03.002. PMID 17689414.

External links

• GeneReviews/NCBI/NIH/UW entry on Ataxia with Vitamin E Deficiency
• OMIM entries on Ataxia with Vitamin E Deficiency