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Aliases for TTPA Gene

Aliases for TTPA Gene

  • Tocopherol (Alpha) Transfer Protein 2 3 5
  • Alpha-TTP 3 4
  • Tocopherol (Alpha) Transfer Protein (Ataxia (Friedreich-Like) With Vitamin E Deficiency) 3
  • Ataxia (Friedreich-Like) With Vitamin E Deficiency 2
  • AlphaTTP 3
  • TPP1 4
  • TTP1 3
  • ATTP 3
  • AVED 3

External Ids for TTPA Gene

Previous HGNC Symbols for TTPA Gene

  • AVED

Previous GeneCards Identifiers for TTPA Gene

  • GC08M063337
  • GC08M063913
  • GC08M063695
  • GC08M064022
  • GC08M064134
  • GC08M059459
  • GC08M063961

Summaries for TTPA Gene

Entrez Gene Summary for TTPA Gene

  • This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]

GeneCards Summary for TTPA Gene

TTPA (Tocopherol (Alpha) Transfer Protein) is a Protein Coding gene. Diseases associated with TTPA include ataxia with isolated vitamin e deficiency and ataxia with vitamin e deficiency. Among its related pathways are Transport to the Golgi and subsequent modification and Lysosome. GO annotations related to this gene include transporter activity and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is CLVS1.

UniProtKB/Swiss-Prot for TTPA Gene

  • Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity).

Gene Wiki entry for TTPA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTPA Gene

Genomics for TTPA Gene

Regulatory Elements for TTPA Gene

Promoters for TTPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TTPA on UCSC Golden Path with GeneCards custom track

Genomic Location for TTPA Gene

Chromosome:
8
Start:
63,048,553 bp from pter
End:
63,086,100 bp from pter
Size:
37,548 bases
Orientation:
Minus strand

Genomic View for TTPA Gene

Genes around TTPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTPA Gene

Proteins for TTPA Gene

  • Protein details for TTPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49638-TTPA_HUMAN
    Recommended name:
    Alpha-tocopherol transfer protein
    Protein Accession:
    P49638
    Secondary Accessions:
    • Q71V64

    Protein attributes for TTPA Gene

    Size:
    278 amino acids
    Molecular mass:
    31750 Da
    Quaternary structure:
    • Monomer and homotetramer. Phosphatidylinol 4,5-bisphosphate binding induces the formation of homotetramers. Phosphatidylinol 3,4-bisphosphate is less efficient in inducing tetramerization (By similarity).

    Three dimensional structures from OCA and Proteopedia for TTPA Gene

neXtProt entry for TTPA Gene

Proteomics data for TTPA Gene at MOPED

Post-translational modifications for TTPA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTPA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TTPA Gene

Domains & Families for TTPA Gene

Suggested Antigen Peptide Sequences for TTPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49638

UniProtKB/Swiss-Prot:

TTPA_HUMAN :
  • Contains 1 CRAL-TRIO domain.
Domain:
  • Contains 1 CRAL-TRIO domain.
genes like me logo Genes that share domains with TTPA: view

No data available for Gene Families for TTPA Gene

Function for TTPA Gene

Molecular function for TTPA Gene

GENATLAS Biochemistry:
alpha-tocopherol transfer protein
UniProtKB/Swiss-Prot Function:
Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity).

Gene Ontology (GO) - Molecular Function for TTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA,ISS --
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding IEA,ISS --
genes like me logo Genes that share ontologies with TTPA: view
genes like me logo Genes that share phenotypes with TTPA: view

Human Phenotype Ontology for TTPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TTPA Gene

MGI Knock Outs for TTPA:

Animal Model Products

miRNA for TTPA Gene

miRTarBase miRNAs that target TTPA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TTPA Gene

Localization for TTPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTPA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTPA Gene COMPARTMENTS Subcellular localization image for TTPA gene
Compartment Confidence
cytosol 4
endosome 2
extracellular 2
nucleus 2
chloroplast 1
golgi apparatus 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for TTPA Gene

Pathways & Interactions for TTPA Gene

genes like me logo Genes that share pathways with TTPA: view

Pathways by source for TTPA Gene

Gene Ontology (GO) - Biological Process for TTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001892 embryonic placenta development IEA --
GO:0006629 lipid metabolic process TAS 7887897
GO:0007584 response to nutrient IEA --
GO:0046909 intermembrane transport IEA,ISS --
GO:0051180 vitamin transport IEA,ISS --
genes like me logo Genes that share ontologies with TTPA: view

No data available for SIGNOR curated interactions for TTPA Gene

Drugs & Compounds for TTPA Gene

(8) Drugs for TTPA Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin E Approved Nutra Carrier 371,376
1-{2-[2-(2-Methoxyethoxy)Ethoxy]Ethoxy}-4-(1,1,3,3-Tetramethylbutyl)Benzene Experimental Pharma Carrier 0

(7) Additional Compounds for TTPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TTPA: view

Transcripts for TTPA Gene

mRNA/cDNA for TTPA Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TTPA Gene

Tocopherol (alpha) transfer protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTPA Gene

No ASD Table

Relevant External Links for TTPA Gene

GeneLoc Exon Structure for
TTPA
ECgene alternative splicing isoforms for
TTPA

Expression for TTPA Gene

mRNA expression in normal human tissues for TTPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTPA Gene

This gene is overexpressed in Liver (x35.8).

Protein differential expression in normal tissues from HIPED for TTPA Gene

This gene is overexpressed in Gallbladder (43.8), Liver (16.6), and Fetal Liver (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTPA Gene



SOURCE GeneReport for Unigene cluster for TTPA Gene Hs.69049

genes like me logo Genes that share expression patterns with TTPA: view

Protein tissue co-expression partners for TTPA Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TTPA Gene

Orthologs for TTPA Gene

This gene was present in the common ancestor of animals.

Orthologs for TTPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTPA 35
  • 99.16 (n)
  • 99.28 (a)
TTPA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTPA 36
  • 87 (a)
OneToOne
TTPA 35
  • 86.76 (n)
  • 88.45 (a)
dog
(Canis familiaris)
Mammalia TTPA 35
  • 91.95 (n)
  • 95.17 (a)
TTPA 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttpa 36
  • 89 (a)
OneToOne
Ttpa 16
Ttpa 35
  • 86.57 (n)
  • 89.21 (a)
oppossum
(Monodelphis domestica)
Mammalia TTPA 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTPA 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttpa 35
  • 85.73 (n)
  • 88.85 (a)
chicken
(Gallus gallus)
Aves TTPA 35
  • 74.16 (n)
  • 73.41 (a)
TTPA 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTPA 36
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ttpa 36
  • 59 (a)
OneToOne
ttpa 35
  • 62.45 (n)
  • 63.6 (a)
wufd44e05 35
fruit fly
(Drosophila melanogaster)
Insecta CG10237 37
  • 32 (a)
CG10300 36
  • 20 (a)
ManyToMany
CG10301 36
  • 18 (a)
ManyToMany
CG10657 36
  • 20 (a)
ManyToMany
CG11550 36
  • 14 (a)
ManyToMany
CG12926 36
  • 20 (a)
ManyToMany
CG1902 36
  • 18 (a)
ManyToMany
CG2663 36
  • 20 (a)
ManyToMany
CG30339 36
  • 21 (a)
ManyToMany
CG3091 36
  • 19 (a)
ManyToMany
CG31636 36
  • 20 (a)
ManyToMany
CG3191 36
  • 18 (a)
ManyToMany
CG33514 36
  • 22 (a)
ManyToMany
CG33965 36
  • 21 (a)
ManyToMany
CG33966 36
  • 24 (a)
ManyToMany
CG3823 36
  • 23 (a)
ManyToMany
Cralbp 36
  • 22 (a)
ManyToMany
pinta 36
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
ManyToMany
Species with no ortholog for TTPA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TTPA Gene

ENSEMBL:
Gene Tree for TTPA (if available)
TreeFam:
Gene Tree for TTPA (if available)

Paralogs for TTPA Gene

Paralogs for TTPA Gene

(5) SIMAP similar genes for TTPA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TTPA: view

Variants for TTPA Gene

Sequence variations from dbSNP and Humsavar for TTPA Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_005668 Ataxia with isolated vitamin E deficiency (AVED)
VAR_007858 Ataxia with isolated vitamin E deficiency (AVED)
VAR_022388 Ataxia with isolated vitamin E deficiency (AVED)
VAR_022389 Ataxia with isolated vitamin E deficiency (AVED)
VAR_022390 Ataxia with isolated vitamin E deficiency (AVED)

Variation tolerance for TTPA Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTPA Gene

HapMap Linkage Disequilibrium report
TTPA
Human Gene Mutation Database (HGMD)
TTPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TTPA Gene

Disorders for TTPA Gene

MalaCards: The human disease database

(21) MalaCards diseases for TTPA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ataxia with isolated vitamin e deficiency
  • ataxia with vitamin e deficiency
ataxia with vitamin e deficiency
  • aved
friedreich ataxia
  • friedreich ataxia with retained reflexes
spinocerebellar degeneration
  • spinocerebellar degenerations
ataxia
- elite association - COSMIC cancer census association via MalaCards
Search TTPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TTPA_HUMAN
  • Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]: An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss. {ECO:0000269 PubMed:15300460, ECO:0000269 PubMed:7566022, ECO:0000269 PubMed:8602747, ECO:0000269 PubMed:9463307}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTPA

Genetic Association Database (GAD)
TTPA
Human Genome Epidemiology (HuGE) Navigator
TTPA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTPA
genes like me logo Genes that share disorders with TTPA: view

No data available for Genatlas for TTPA Gene

Publications for TTPA Gene

  1. Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. (PMID: 7887897) Arita M. … Inoue K. (Biochem. J. 1995) 2 3 4 23 67
  2. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. (PMID: 7719340) Ouahchi K. … Koenig M. (Nat. Genet. 1995) 2 3 23
  3. Effect of bilayer phospholipid composition and curvature on ligand transfer by the alpha-tocopherol transfer protein. (PMID: 19458973) Zhang W.X. … Atkinson J. (Lipids 2009) 3 23
  4. Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk. (PMID: 19190344) Wright M.E. … Albanes D. (Cancer Res. 2009) 3 23
  5. Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy. (PMID: 18984846) Fusco C. … Della Giustina E. (J. Child Neurol. 2008) 3 23

Products for TTPA Gene

Sources for TTPA Gene

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