Alpha-tocopherol transfer protein

Alpha-tocopherol transfer protein is a protein that in humans is encoded by the TTPA gene.[5][6][7]

TTPA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1OIP, 1OIZ, 1R5L
Identifiers
Aliases	TTPA, ATTP, AVED, TTP1, alphaTTP, tocopherol (alpha) transfer protein, alpha tocopherol transfer protein
External IDs	OMIM: 600415 MGI: 1354168 HomoloGene: 37295 GeneCards: TTPA
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q12.3 Start 63,048,553 bp[1] End 63,086,053 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 A3|4 7.76 cM Start 20,007,938 bp[2] End 20,030,785 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • vitamin binding • vitamin E binding • phosphatidylinositol-3,4-bisphosphate binding • GO:0001948 protein binding • phosphatidylinositol-4,5-bisphosphate binding • lipid binding • intermembrane lipid transfer activity Cellular component • cytoplasm • late endosome • cytosol Biological process • intracellular pH reduction • response to nutrient • placentation • lipid metabolism • embryonic placenta development • negative regulation of cell death • negative regulation of establishment of blood-brain barrier • response to pH • vitamin transport • response to toxic substance • vitamin E metabolic process • intermembrane lipid transfer • developmental process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7274	50500
Ensembl	ENSG00000137561	ENSMUSG00000073988
UniProt	P49638	Q8BWP5
RefSeq (mRNA)	NM_000370	NM_015767 NM_001317723
RefSeq (protein)	NP_000361	NP_001304652 NP_056582
Location (UCSC)	Chr 8: 63.05 – 63.09 Mb	Chr 4: 20.01 – 20.03 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

See also

• Familial isolated vitamin E deficiency

References

1. GRCh38: Ensembl release 89: ENSG00000137561 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000073988 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M (1995). "Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein". Nat Genet. 9 (2): 141–145. doi:10.1038/ng0295-141. PMID 7719340.
6. Arita M, Sato Y, Miyata A, Tanabe T, Takahashi E, Kayden HJ, Arai H, Inoue K (1995). "Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization". Biochem J. 306 (2): 437–443. doi:10.1042/bj3060437. PMC 1136538. PMID 7887897.
7. "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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005NYASA1043..379K. 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. 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
• Human TTPA genome location and TTPA gene details page in the UCSC Genome Browser.