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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]
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 SEC14L3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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 | TAS,ISS | -- |
GO:0019842 | vitamin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005770 | late endosome | IEA,IBA | 21873635 |
GO:0005829 | cytosol | IEA,TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001890 | placenta development | IEA | -- |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Vitamin E | Approved, Vet_approved | Nutra | Carrier | 526,534 | ||
alpha-Tocopherol acetate | Approved, Vet_approved | Nutra | Carrier, Transporter, substrate | 0 | ||
Tocopherol | Approved, Investigational | Pharma | Transporter, substrate | 9,535 | ||
Tocofersolan | Approved | Pharma | Transporter, substrate | 0 | ||
alpha-Tocopherol succinate | Approved, Vet_approved | Nutra | Carrier | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TTPA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TTPA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TTPA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ttpa 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ttpa 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TTPA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TTPA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TTPA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TTPA 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | ttpa 30 31 |
|
OneToOne | |
wufd44e05 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10237 32 |
|
|
|
pinta 31 |
|
ManyToMany | |||
CG33966 31 |
|
ManyToMany | |||
CG3823 31 |
|
ManyToMany | |||
Cralbp 31 |
|
ManyToMany | |||
CG33514 31 |
|
ManyToMany | |||
CG33965 31 |
|
ManyToMany | |||
CG30339 31 |
|
ManyToMany | |||
CG10657 31 |
|
ManyToMany | |||
CG10300 31 |
|
ManyToMany | |||
CG2663 31 |
|
ManyToMany | |||
CG31636 31 |
|
ManyToMany | |||
CG12926 31 |
|
ManyToMany | |||
CG3091 31 |
|
ManyToMany | |||
CG10301 31 |
|
ManyToMany | |||
CG1902 31 |
|
ManyToMany | |||
CG3191 31 |
|
ManyToMany | |||
CG11550 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721391 | Likely Benign: not provided | 63,073,008(-) | G/A | SYNONYMOUS_VARIANT | |
724632 | Conflicting Interpretations: Familial isolated deficiency of vitamin E; not provided | 63,085,986(-) | C/A | SYNONYMOUS_VARIANT | |
727159 | Likely Benign: not provided | 63,072,938(-) | T/C | MISSENSE_VARIANT | |
729056 | Benign: not provided | 63,085,875(-) | G/A | SYNONYMOUS_VARIANT | |
752168 | Benign: not provided | 63,065,985(-) | G/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
vitamin e, familial isolated deficiency of |
|
|
ataxia with vitamin e deficiency |
|
|
friedreich ataxia |
|
|
abetalipoproteinemia |
|
|
autosomal recessive disease |
|
|