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Identification
HMDB Protein ID HMDBP02033
Secondary Accession Numbers
  • 7502
Name Alpha-tocopherol transfer protein
Synonyms
  1. Alpha-TTP
Gene Name TTPA
Protein Type Enzyme
Biological Properties
General Function Involved in transporter activity
Specific Function Binds alpha-tocopherol and enhances its transfer between separate membranes
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
intracellular
Function
transporter activity
Process
establishment of localization
transport
Cellular Location
  1. Cytoplasm
Gene Properties
Chromosome Location Chromosome:8
Locus 8q12.3
SNPs TTPA
Gene Sequence
>837 bp
ATGGCAGAGGCGCGATCCCAGCCCTCGGCGGGGCCGCAGCTCAACGCGCTACCGGACCAC
TCTCCGTTGCTGCAGCCGGGCCTGGCGGCGCTGCGGCGCCGGGCCCGGGAAGCTGGCGTC
CCGCTCGCGCCGCTGCCGCTCACCGACTCCTTCCTGCTGCGGTTCCTGCGCGCCCGGGAT
TTCGATCTGGACCTGGCCTGGCGGTTACTAAAAAACTATTATAAGTGGAGAGCAGAATGT
CCAGAAATAAGTGCAGATCTACACCCTAGAAGTATTATTGGCCTCCTAAAGGCTGGCTAC
CATGGAGTCCTGAGATCCAGGGATCCCACTGGCAGCAAAGTTCTTATTTACAGAATCGCA
CACTGGGACCCCAAAGTTTTTACAGCTTATGACGTATTTCGAGTAAGTCTAATCACATCC
GAGCTTATTGTACAGGAGGTAGAAACTCAGCGGAATGGAATCAAGGCTATCTTTGATCTG
GAAGGTTGGCAGTTTTCTCATGCTTTTCAAATCACTCCATCCGTAGCCAAGAAGATTGCT
GCTGTACTTACGGATTCATTTCCATTGAAAGTTCGTGGCATCCATTTGATAAATGAACCA
GTAATTTTCCATGCTGTCTTTTCCATGATCAAACCATTCCTGACTGAAAAAATTAAGGAA
CGGATTCACATGCATGGGAACAACTACAAACAAAGCTTGCTTCAGCATTTCCCAGACATT
CTTCCTCTGGAATATGGTGGTGAAGAATTCTCCATGGAGGACATTTGTCAGGAATGGACA
AATTTTATAATGAAGTCTGAAGATTATCTCAGCAGCATTTCTGAGAGCATTCAATGA
Protein Properties
Number of Residues 278
Molecular Weight 31749.3
Theoretical pI 7.78
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Alpha-tocopherol transfer protein
MAEARSQPSAGPQLNALPDHSPLLQPGLAALRRRAREAGVPLAPLPLTDSFLLRFLRARD
FDLDLAWRLLKNYYKWRAECPEISADLHPRSIIGLLKAGYHGVLRSRDPTGSKVLIYRIA
HWDPKVFTAYDVFRVSLITSELIVQEVETQRNGIKAIFDLEGWQFSHAFQITPSVAKKIA
AVLTDSFPLKVRGIHLINEPVIFHAVFSMIKPFLTEKIKERIHMHGNNYKQSLLQHFPDI
LPLEYGGEEFSMEDICQEWTNFIMKSEDYLSSISESIQ
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P49638
UniProtKB/Swiss-Prot Entry Name TTPA_HUMAN
PDB IDs
GenBank Gene ID D49488
GeneCard ID TTPA
GenAtlas ID TTPA
HGNC ID HGNC:12404
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Arita M, Sato Y, Miyata A, Tanabe T, Takahashi E, Kayden HJ, Arai H, Inoue K: Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. Biochem J. 1995 Mar 1;306 ( Pt 2):437-43. [PubMed:7887897 ]
  3. Hentati A, Deng HX, Hung WY, Nayer M, Ahmed MS, He X, Tim R, Stumpf DA, Siddique T, Ahmed: Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. Ann Neurol. 1996 Mar;39(3):295-300. [PubMed:8602747 ]
  4. Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M: Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet. 1998 Feb;62(2):301-10. [PubMed:9463307 ]
  5. Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M: Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995 Feb;9(2):141-5. [PubMed:7719340 ]
  6. Meier R, Tomizaki T, Schulze-Briese C, Baumann U, Stocker A: The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. J Mol Biol. 2003 Aug 15;331(3):725-34. [PubMed:12899840 ]
  7. Min KC, Kovall RA, Hendrickson WA: 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. 2003 Dec 9;100(25):14713-8. Epub 2003 Dec 1. [PubMed:14657365 ]
  8. Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N: Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med. 1995 Nov 16;333(20):1313-8. [PubMed:7566022 ]
  9. Morley S, Panagabko C, Shineman D, Mani B, Stocker A, Atkinson J, Manor D: Molecular determinants of heritable vitamin E deficiency. Biochemistry. 2004 Apr 13;43(14):4143-9. [PubMed:15065857 ]
  10. Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S: Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 2004 Jul;25(3):130-7. [PubMed:15300460 ]