Alpha-tocopherol transfer protein

Tocopherol (alpha) transfer protein

PDB rendering based on 1oip.

Available structures

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 • 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

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

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]

References

↑ 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.
↑ 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.
↑ "Entrez Gene: TTPA tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)".

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

PDB gallery

1oip: THE MOLECULAR BASIS OF VITAMIN E RETENTION: STRUCTURE OF HUMAN ALPHA-TOCOPHEROL TRANSFER PROTEIN

1oiz: THE MOLECULAR BASIS OF VITAMIN E RETENTION: STRUCTURE OF HUMAN ALPHA-TOCOPHEROL TRANSFER PROTEIN

1r5l: Crystal Structure of Human Alpha-Tocopherol Transfer Protein Bound to its Ligand

Metabolism of vitamins, coenzymes, and cofactors

Fat soluble vitamins

Vitamin A	Retinol binding protein

Vitamin E	Alpha-tocopherol transfer protein

Vitamin D	liver (Sterol 27-hydroxylase or CYP27A1) renal (25-Hydroxyvitamin D₃ 1-alpha-hydroxylase or CYP27B1) degradation (1,25-Dihydroxyvitamin D₃ 24-hydroxylase or CYP24A1)

Vitamin K	Vitamin K epoxide reductase

Water soluble vitamins

Thiamine (B₁)

Thiamine diphosphokinase

Niacin (B₃)

Pantothenic acid (B₅)

Pantothenate kinase

Folic acid (B₉)

Dihydropteroate synthase Dihydrofolate reductase Serine hydroxymethyltransferase

Methylenetetrahydrofolate reductase

Vitamin B₁₂

Vitamin C

L-gulonolactone oxidase

Riboflavin (B₂)

Riboflavin kinase

Nonvitamin cofactors

Tetrahydrobiopterin

GTP cyclohydrolase I 6-pyruvoyltetrahydropterin synthase Sepiapterin reductase

PCBD1 PTS QDPR

Molybdenum cofactor

MOCS1
MOCS2
MOCS3
GPHN

Index of nutrition

Description	Vitamins metabolism Cofactors Metal metabolism Fats metabolism intermediates lipoproteins Sugars Glycolysis enzymes Glycogenesis and glycogenolysis intermediates Fructose and galactose intermediates

Disease	Vitamins Carbohydrate Lipid storage Metals Other Symptoms and signs eponymous

Treatment	Drugs obesity lipid-modifying Vitamins Mineral supplements

Alpha-tocopherol transfer protein

See also

References

Further reading

External links