Alpha-tocopherol transfer protein

Protein-coding gene in the species Homo sapiens
TTPA
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1OIP, 1OIZ, 1R5L

Identifiers
AliasesTTPA, ATTP, AVED, TTP1, alphaTTP, tocopherol (alpha) transfer protein, alpha tocopherol transfer protein
External IDsOMIM: 600415 MGI: 1354168 HomoloGene: 37295 GeneCards: TTPA
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for TTPA
Genomic location for TTPA
Band8q12.3Start63,048,553 bp[1]
End63,086,053 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for TTPA
Genomic location for TTPA
Band4 A3|4 7.76 cMStart20,007,938 bp[2]
End20,030,785 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of liver

  • rectum

  • nucleus accumbens

  • caudate nucleus

  • amygdala

  • putamen

  • ganglionic eminence

  • cingulate gyrus

  • Brodmann area 9

  • prefrontal cortex
Top expressed in
  • left lobe of liver

  • parotid gland

  • submandibular gland

  • hair follicle

  • proximal tubule

  • mammary gland

  • sexually immature organism

  • kidney

  • lacrimal gland

  • substantia nigra
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
SpeciesHumanMouse
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 MbChr 4: 20.01 – 20.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137561 – Ensembl, May 2017
  2. ^ a b c 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.
  • v
  • t
  • e
  • 1oip: THE MOLECULAR BASIS OF VITAMIN E RETENTION: STRUCTURE OF HUMAN ALPHA-TOCOPHEROL TRANSFER PROTEIN
    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
    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
    1r5l: Crystal Structure of Human Alpha-Tocopherol Transfer Protein Bound to its Ligand
  • v
  • t
  • e
Metabolism of vitamins, coenzymes, and cofactors
Fat soluble vitamins
Vitamin A
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
Water soluble vitamins
Thiamine (B1)
Niacin (B3)
Pantothenic acid (B5)
Folic acid (B9)
Vitamin B12
Vitamin C
Riboflavin (B2)
Nonvitamin cofactors
Tetrahydrobiopterin
Molybdopterin


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