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TTPA Gene(Protein Coding)

Alpha Tocopherol Transfer Protein

GCID:
GC08M063048
GIFtS:
61
Genes Participants
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Aliases for TTPA Gene

Aliases for TTPA Gene

  • Alpha Tocopherol 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
  • Tocopherol (Alpha) Transfer Protein 2
  • Alpha-Tocopherol Transfer Protein 3
  • 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 (Alpha Tocopherol Transfer Protein) is a Protein Coding gene. Diseases associated with TTPA include Ataxia With Isolated Vitamin E Deficiency and Ataxia With Vitamin E Deficiency. GO annotations related to this gene include transporter activity and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is TTPAL.

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

Products:

  1. Regulatory Element

Regulatory Elements for TTPA Gene

Enhancers for TTPA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F063032 1.1 FANTOM5 Ensembl ENCODE 6 +53.3 53306 0.4 MAFG NFE2 NFE2L2 GGH YTHDF3 TTPA ENSG00000253121 GC08P063039
GH08F063038 1.1 ENCODE 5 +47.0 46989 2.0 HDGF CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 ZNF263 GGH TTPA GC08P063039
GH08F063024 0.5 ENCODE 6 +61.2 61196 1.6 ATF3 JUN HNF4G YY1 TTPA ENSG00000253121 GC08P063039
GH08F062946 0.5 ENCODE 4.5 +139.3 139263 1.1 PKNOX1 IKZF1 TBX21 TTPA PIR49736 UG0898H09
GH08F063085 0.6 ENCODE 0.8 +0.1 136 1.1 SUZ12 CBX2 E2F1 ZNF366 POLR2A ZBTB48 ZBTB26 EZH2 ZBTB20 TTPA GGH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTPA on UCSC Golden Path with GeneCards custom track

Promoters for TTPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001393129 99 1599 SOX13 SUZ12 CBX2 YY1 E2F1 GATA3 HNF1A ZNF366 POLR2A ZBTB48

Transcription factor binding sites by QIAGEN in the TTPA gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for TTPA Gene

Proteins for TTPA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for TTPA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Protein Domains for TTPA Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0005215 transporter activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA,ISS --
GO:0008289 lipid binding IEA --
GO:0008431 vitamin E binding ISS,TAS --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTPA gene
Compartment Confidence
cytosol 4
endosome 3
extracellular 2
nucleus 2
plasma membrane 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005770 late endosome IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with TTPA: view

Pathways & Interactions for TTPA Gene

SuperPathways for TTPA Gene

PathCards logo More details on SuperPathways for TTPA
No Data Available

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:0006810 transport TAS 7887897
GO:0007584 response to nutrient IEA --
GO:0009268 response to pH IEA --
genes like me logo Genes that share ontologies with TTPA: view

No data available for Pathways by source and SIGNOR curated interactions for TTPA Gene

Drugs & Compounds for TTPA Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin E Approved, Vet_approved Nutra Carrier 406,403
1-{2-[2-(2-Methoxyethoxy)Ethoxy]Ethoxy}-4-(1,1,3,3-Tetramethylbutyl)Benzene Experimental Pharma Carrier 0

(6) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTPA Gene

mRNA expression in normal human tissues for TTPA Gene
mRNA expression by BioGPS for TTPA GenemRNA expression by GTEx 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, MaxQB, and MOPED for TTPA Gene



Protein tissue co-expression partners for TTPA Gene

NURSA nuclear receptor signaling pathways regulating expression of TTPA Gene:

TTPA

SOURCE GeneReport for Unigene cluster for TTPA Gene:

Hs.69049
genes like me logo Genes that share expression patterns with TTPA: view

Primer 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 34 35
  • 99.16 (n)
dog
(Canis familiaris)
 Mammalia TTPA 34 35
  • 91.95 (n)
cow
(Bos Taurus)
 Mammalia TTPA 34 35
  • 86.76 (n)
mouse
(Mus musculus)
 Mammalia Ttpa 34 16 35
  • 86.57 (n)
rat
(Rattus norvegicus)
 Mammalia Ttpa 34
  • 85.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia TTPA 35
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TTPA 35
  • 68 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TTPA 34 35
  • 74.16 (n)
lizard
(Anolis carolinensis)
 Reptilia TTPA 35
  • 69 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii ttpa 34 35
  • 62.45 (n)
wufd44e05 34
fruit fly
(Drosophila melanogaster)
 Insecta CG10237 36
  • 32 (a)
CG33966 35
  • 24 (a)
 ManyToMany
pinta 35
  • 24 (a)
 ManyToMany
CG3823 35
  • 23 (a)
 ManyToMany
CG33514 35
  • 22 (a)
 ManyToMany
Cralbp 35
  • 22 (a)
 ManyToMany
CG30339 35
  • 21 (a)
 ManyToMany
CG33965 35
  • 21 (a)
 ManyToMany
CG10300 35
  • 20 (a)
 ManyToMany
CG10657 35
  • 20 (a)
 ManyToMany
CG12926 35
  • 20 (a)
 ManyToMany
CG2663 35
  • 20 (a)
 ManyToMany
CG31636 35
  • 20 (a)
 ManyToMany
CG3091 35
  • 19 (a)
 ManyToMany
CG10301 35
  • 18 (a)
 ManyToMany
CG1902 35
  • 18 (a)
 ManyToMany
CG3191 35
  • 18 (a)
 ManyToMany
CG11550 35
  • 14 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 21 (a)
 ManyToMany
Species where no ortholog for TTPA was found in the sources mined by GeneCards:
  • 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
rs121917849 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460], Pathogenic 63,072,990(-) TACCA(G/T)GGAGT intron-variant, reference, missense
rs143010236 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460], Pathogenic 63,072,935(+) CTTAC(C/T)GATTC intron-variant, reference, missense
rs28936369 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
rs35916840 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460], Pathogenic 63,064,208(-) AGGAA(C/T)GGGTG reference, missense
rs397515522 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460], Pathogenic 63,085,847(-) GCGCC(C/T)GGGAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TTPA Gene

Variant ID Type Subtype PubMed ID
nsv611448 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
TTPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTPA Gene

Disorders for TTPA Gene

MalaCards: The human disease database

(11) 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
  • vitamin e, familial isolated deficiency of
ataxia with vitamin e deficiency
  • ataxia with isolated vitamin e deficiency
friedreich ataxia
  • friedreich ataxia with retained reflexes
ataxia
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • spinocerebellar ataxia, autosomal recessive 1
- 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. 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 4 22 64
  2. Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. (PMID: 7887897) Arita M. … Inoue K. (Biochem. J. 1995) 2 3 4 22 64
  3. 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 22 46 64
  4. Molecular determinants of heritable vitamin E deficiency. (PMID: 15065857) Morley S. … Manor D. (Biochemistry 2004) 3 4 22 64
  5. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. (PMID: 15300460) Mariotti C. … Di Donato S. (Neurol. Sci. 2004) 3 4 22 64

Products for TTPA Gene

Sources for TTPA Gene

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