Aliases for TTPA Gene
Aliases for TTPA Gene
External Ids for TTPA Gene
- HGNC: 12404
- Entrez Gene: 7274
- Ensembl: ENSG00000137561
- OMIM: 600415
- UniProtKB: P49638
Previous HGNC Symbols for TTPA Gene
- AVED
Previous GeneCards Identifiers for TTPA Gene
- GC08M063337
- GC08M063913
- GC08M063695
- GC08M064022
- GC08M064134
- GC08M059459
- GC08M063961
Summaries 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 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).
Additional gene information for TTPA Gene
- Monarch Initiative
- Search for TTPA at DataMed
- Search for TTPA at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTPA Gene
Genomics for TTPA Gene
GeneHancer (GH) Regulatory Elements 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH08I063085 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE | 550.8 | +0.1 | 99 | 1.2 | USF1 TAF1 SUZ12 MAX ELF1 REST E2F1 ZNF335 POLR2A ZNF366 | TTPA GGH | |
GH08I063038 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 5 | +47.0 | 47049 | 2.1 | HDGF FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF207 ZNF143 | GGH GC08P063039 YTHDF3 TTPA ENSG00000253121 | |
GH08I063024 | Enhancer | 0.6 | ENCODE | 6 | +61.2 | 61195 | 1.6 | FOXA2 RXRA JUN FOXA1 YY1 JUND ATF3 HNF4G HNF4A | ENSG00000253121 TTPA GC08P063039 GGH | |
GH08I062946 | Enhancer | 0.4 | ENCODE | 4.5 | +139.3 | 139263 | 1.1 | PKNOX1 IKZF1 IKZF2 | TTPA PIR49736 UG0898H09 GC08P062854 NKAIN3 | |
GH08I063124 | Enhancer | 0.5 | ENCODE | 0.3 | -39.0 | -38972 | 0.2 | L3MBTL2 GABPB1 ELF4 ZBTB33 ETS1 | GGH LOC100128540 TTPA |
- Top Transcription factor binding sites by QIAGEN in the TTPA gene promoter:
Regulatory Element Products
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)
Genomic View for TTPA Gene
- Cytogenetic band:
-
- 8q12.3 by Ensembl
- 8q12.3 by Entrez Gene
- 8q12.3 by HGNC


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
- 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).
Protein Expression for TTPA Gene
Post-translational modifications for TTPA Gene
Other Protein References for TTPA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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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
Protein Domains for TTPA Gene
Suggested Antigen Peptide Sequences for TTPA Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot 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).
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 | IEA,ISS | -- |
GO:0019842 | vitamin binding | IEA | -- |
Phenotypes for TTPA Gene
- MGI mutant phenotypes for TTPA:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for TTPA:
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-
-
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-
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-
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miRNA for TTPA Gene
- miRTarBase miRNAs that target TTPA
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for TTPA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TTPA
-
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for TTPA Gene
Localization for TTPA Gene
Subcellular locations from UniProtKB/Swiss-Prot for TTPA Gene
- Cytoplasm.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005770 | late endosome | IEA | -- |
GO:0005829 | cytosol | TAS,IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TTPA Gene
Pathways & Interactions for TTPA Gene
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for TTPA Gene
Drugs & Compounds for TTPA Gene
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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
CRISPR Products
-
OriGene CRISPR knockouts for TTPA
- genomics-online: gRNA clones - Search results for 102 available TTPA gene related products
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- Applied Biological Materials CRISPR for TTPA
-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
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Inhibitory RNA Products
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- Overview of 102 available TTPA gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TTPA gene
Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for TTPA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for TTPA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
-
Epithelial Cells
- Duct Cells Pancreatic Ducts
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
-
Brain (Nervous System)
- Protoplasmic Astrocyte Cells Neocortex
-
Glial Cells
- Protoplasmic Astrocyte Cells Neocortex
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for TTPA Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTPA Gene
NURSA nuclear receptor signaling pathways regulating expression of TTPA Gene:
TTPASOURCE GeneReport for Unigene cluster for TTPA Gene:
Hs.69049Evidence 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
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- brain
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- heart
- lung
- rib
- rib cage
- duodenum
- intestine
- liver
- pancreas
- small intestine
- pelvis
- foot
- lower limb
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for TTPA
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TTPA 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | TTPA 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | TTPA 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Ttpa 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Ttpa 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | TTPA 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | TTPA 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | TTPA 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | TTPA 34 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | ttpa 33 34 |
|
||
wufd44e05 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | CG10237 35 |
|
|
|
CG33966 34 |
|
ManyToMany | |||
pinta 34 |
|
ManyToMany | |||
CG3823 34 |
|
ManyToMany | |||
CG33514 34 |
|
ManyToMany | |||
Cralbp 34 |
|
ManyToMany | |||
CG30339 34 |
|
ManyToMany | |||
CG33965 34 |
|
ManyToMany | |||
CG10300 34 |
|
ManyToMany | |||
CG10657 34 |
|
ManyToMany | |||
CG12926 34 |
|
ManyToMany | |||
CG2663 34 |
|
ManyToMany | |||
CG31636 34 |
|
ManyToMany | |||
CG3091 34 |
|
ManyToMany | |||
CG10301 34 |
|
ManyToMany | |||
CG1902 34 |
|
ManyToMany | |||
CG3191 34 |
|
ManyToMany | |||
CG11550 34 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for TTPA Gene
Variants for TTPA Gene
SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1001450282 | uncertain-significance, Ataxia with vitamin E deficiency | 63,060,517(-) | A/G | 3_prime_UTR_variant | |
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 | 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 |
Additional Variant Information for TTPA Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTPA Gene
Disorders for TTPA Gene

(14) MalaCards diseases for TTPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
vitamin e, familial isolated deficiency of |
|
|
ataxia with vitamin e deficiency |
|
|
friedreich ataxia 1 |
|
|
vitamin metabolic disorder |
|
|
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
|
|
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
No data available for Genatlas for TTPA Gene
Publications for TTPA Gene
- 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 22 58
- Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. (PMID: 7887897) Arita M … Inoue K (The Biochemical journal 1995) 2 3 4 22 58
- 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 22 44 58
- Molecular determinants of heritable vitamin E deficiency. (PMID: 15065857) Morley S … Manor D (Biochemistry 2004) 3 4 22 58
- 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 22 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 29 available TTPA Antibodies ranked by validation data
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- Overview of 102 available TTPA gene related products
Sources for TTPA Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
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