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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; OMA:TTPA - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q12.3 Start 63,048,553 bp End 63,086,053 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 A3|4 7.76 cM Start 20,007,938 bp End 20,030,785 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver buccal mucosa cell gonad rectum testicle ventricular zone nucleus accumbens caudate nucleus Amygdala mucosa of transverse colon Top expressed in left lobe of liver parotid gland submandibular gland lumbar subsegment of spinal cord right kidney hair follicle proximal tubule mammary gland sexually immature organism human kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function vitamin binding vitamin E binding phosphatidylinositol-3,4-bisphosphate binding protein binding phosphatidylinositol-4,5-bisphosphate binding lipid binding lipid transfer activity Cellular component cytoplasm late endosome cytosol Biological process intracellular pH reduction response to nutrient placenta development 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
Wikidata
View/Edit Human View/Edit Mouse

Alpha-tocopherol transfer protein (α-TTP) is a protein that in humans is encoded by the TTPA gene.

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. S2CID 24917144.
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. S2CID 33125913.
• 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. S2CID 85193347.
• 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. S2CID 85982835.
• 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. S2CID 25567441.
• 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 (1): 379–89. Bibcode:2005NYASA1043..379K. doi:10.1196/annals.1333.044. PMID 16037259. S2CID 21239765.
• 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.

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