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 heredi... See more...

Aliases for TTPA Gene

Aliases for TTPA Gene

  • Alpha Tocopherol Transfer Protein 2 3 5
  • Alpha-Tocopherol Transfer Protein 3 4
  • 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
  • AlphaTTP 3
  • ATTP 3
  • TTP1 3
  • AVED 3
  • TPP1 4

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 Vitamin E, Familial Isolated Deficiency Of and Ataxia With Vitamin E Deficiency. Gene Ontology (GO) annotations related to this gene include transporter activity and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is SEC14L4.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TTPA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTPA Gene

Genomics for TTPA Gene

GeneHancer (GH) Regulatory Elements for TTPA Gene

Promoters and enhancers for TTPA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J063085 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.3 299 2 POLR2A SP1 HNF1A KMT2B ZFX KAT7 ZBTB20 ZBTB48 USF1 TFDP1 TTPA lnc-TTPA-2 GGH RF00017-7076 L13713-233
GH08J063038 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5 +47.3 47299 2.8 ZBTB40 SP1 CTCF SIX5 ZBTB6 RBPJ POLR2A TCF7L2 CREB1 HCFC1 GGH lnc-TTPA-3 lnc-NKAIN3-9 YTHDF3 TTPA lnc-TTPA-4 RF00017-7076
GH08J063032 Enhancer 0.8 FANTOM5 Ensembl ENCODE 6 +53.4 53399 1.4 MAFK NFE2 MAFG GGH YTHDF3 TTPA lnc-TTPA-4 lnc-TTPA-3 RF00017-7076
GH08J063024 Enhancer 0.7 Ensembl ENCODE 6 +60.9 60948 2.1 FOXA1 SP1 RXRA FOXA2 JUND YY1 JUN HNF4A HNF4G ATF3 ENSG00000253121 TTPA lnc-TTPA-4 GGH RF00017-7076
GH08J062946 Enhancer 0.4 ENCODE 4.5 +139.3 139263 1.1 IKZF1 IKZF2 PKNOX1 TTPA piR-55737-003 NKAIN3-IT1 NKAIN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTPA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTPA gene promoter:
  • aMEF-2
  • Cart-1
  • FAC1
  • FOXD1
  • Lhx3a
  • LHX3b
  • MEF-2A
  • PPAR-alpha
  • RSRFC4

Genomic Locations for TTPA Gene

Genomic Locations for TTPA Gene
chr8:63,048,553-63,086,100
(GRCh38/hg38)
Size:
37,548 bases
Orientation:
Minus strand
chr8:63,961,112-63,998,612
(GRCh37/hg19)
Size:
37,501 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

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

Gene Families for TTPA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TTPA Gene

GenScript: Design optimal peptide antigens:
  • Alpha-tocopherol transfer protein (TTPA_HUMAN)
genes like me logo Genes that share domains with TTPA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TTPA Gene

Function for TTPA Gene

Molecular function for TTPA Gene

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).
GENATLAS Biochemistry:
alpha-tocopherol transfer protein

Phenotypes From GWAS Catalog for TTPA Gene

Gene Ontology (GO) - Molecular Function for TTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS,IEA --
GO:0008289 lipid binding IEA --
GO:0008431 vitamin E binding TAS,ISS --
GO:0019842 vitamin binding IEA --
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

CRISPR Products

miRNA for TTPA Gene

miRTarBase miRNAs that target TTPA

Clone 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 5
endosome 3
plasma membrane 2
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005770 late endosome IBA,IEA 21873635
GO:0005829 cytosol IEA,TAS --
genes like me logo Genes that share ontologies with TTPA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TTPA Gene

Pathways & Interactions for TTPA Gene

PathCards logo

SuperPathways for TTPA Gene

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:0007584 response to nutrient IEA --
GO:0009268 response to pH IEA --
GO:0009636 response to toxic substance 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

(12) 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 504,508
alpha-Tocopherol acetate Approved, Vet_approved Nutra Carrier, Transporter, substrate 0
Tocopherol Approved, Investigational Pharma Transporter, substrate 9,509
Tocofersolan Approved Pharma Transporter, substrate 0
alpha-Tocopherol succinate Approved, Vet_approved Nutra 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

mRNA/cDNA for TTPA Gene

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

CRISPR Products

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for TTPA Gene

  • Liver(4.7)
  • Kidney(4.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTPA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TTPA: view

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 33 32
  • 99.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTPA 33 32
  • 91.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTPA 33 32
  • 86.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttpa 17 33 32
  • 86.57 (n)
rat
(Rattus norvegicus)
Mammalia Ttpa 32
  • 85.73 (n)
oppossum
(Monodelphis domestica)
Mammalia TTPA 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTPA 33
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTPA 33 32
  • 74.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTPA 33
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ttpa 33 32
  • 62.45 (n)
OneToOne
wufd44e05 32
fruit fly
(Drosophila melanogaster)
Insecta CG10237 34
  • 32 (a)
pinta 33
  • 24 (a)
ManyToMany
CG33966 33
  • 24 (a)
ManyToMany
CG3823 33
  • 23 (a)
ManyToMany
Cralbp 33
  • 22 (a)
ManyToMany
CG33514 33
  • 22 (a)
ManyToMany
CG33965 33
  • 21 (a)
ManyToMany
CG30339 33
  • 21 (a)
ManyToMany
CG10657 33
  • 20 (a)
ManyToMany
CG10300 33
  • 20 (a)
ManyToMany
CG2663 33
  • 20 (a)
ManyToMany
CG31636 33
  • 20 (a)
ManyToMany
CG12926 33
  • 20 (a)
ManyToMany
CG3091 33
  • 19 (a)
ManyToMany
CG10301 33
  • 18 (a)
ManyToMany
CG1902 33
  • 18 (a)
ManyToMany
CG3191 33
  • 18 (a)
ManyToMany
CG11550 33
  • 14 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TTPA: view image

Paralogs for TTPA Gene

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

  • TTPA_HUMAN
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 Variation AA Info Type
rs1008240677 likely-pathogenic, Ataxia with vitamin E deficiency 63,086,009(-) G/A coding_sequence_variant, stop_gained
rs10543235 benign, Ataxia with vitamin E deficiency 63,060,674(-) AAAAAAAAAAAAAAA/AAAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA 3_prime_UTR_variant
rs1057516423 likely-pathogenic, Ataxia with vitamin E deficiency 63,072,980(-) T/A coding_sequence_variant, intron_variant, stop_gained
rs1057517448 likely-pathogenic, Ataxia with vitamin E deficiency 63,066,015(-) T/ coding_sequence_variant, frameshift, intron_variant
rs121917849 pathogenic, Ataxia and retinitis pigmentosa with isolated vitamin E deficiency, Ataxia with vitamin E deficiency, Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] 63,072,990(-) A/C coding_sequence_variant, intron_variant, missense_variant

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)

Additional Variant Information for TTPA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TTPA Gene

MalaCards: The human disease database

(20) MalaCards diseases for TTPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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:15065857, 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.

Additional Disease Information for TTPA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Biochemical journal 1995) 2 3 4 23 56
  2. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. (PMID: 7719340) Ouahchi K … Koenig M (Nature genetics 1995) 2 3 4 23 56
  3. Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk. (PMID: 19190344) Wright ME … Albanes D (Cancer research 2009) 3 23 43 56
  4. 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 (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2004) 3 4 23 56
  5. Molecular determinants of heritable vitamin E deficiency. (PMID: 15065857) Morley S … Manor D (Biochemistry 2004) 3 4 23 56

Products for TTPA Gene

Sources for TTPA Gene