Gene/Proteome Database (LMPD)
LMPD ID
LMP001960
Gene ID
Species
Homo sapiens (Human)
Gene Name
tocopherol (alpha) transfer protein
Gene Symbol
Synonyms
ATTP; AVED; TTP1; alphaTTP
Alternate Names
alpha-tocopherol transfer protein; alpha-TTP; tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
Chromosome
8
Map Location
8q12.3
Summary
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]
Orthologs
Proteins
| alpha-tocopherol transfer protein | |
|---|---|
| Refseq ID | NP_000361 |
| Protein GI | 4507723 |
| UniProt ID | P49638 |
| mRNA ID | NM_000370 |
| Length | 278 |
| RefSeq Status | REVIEWED |
| MAEARSQPSAGPQLNALPDHSPLLQPGLAALRRRAREAGVPLAPLPLTDSFLLRFLRARDFDLDLAWRLLKNYYKWRAECPEISADLHPRSIIGLLKAGYHGVLRSRDPTGSKVLIYRIAHWDPKVFTAYDVFRVSLITSELIVQEVETQRNGIKAIFDLEGWQFSHAFQITPSVAKKIAAVLTDSFPLKVRGIHLINEPVIFHAVFSMIKPFLTEKIKERIHMHGNNYKQSLLQHFPDILPLEYGGEEFSMEDICQEWTNFIMKSEDYLSSISESIQ | |
Gene Information
Entrez Gene ID
Gene Name
tocopherol (alpha) transfer protein
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005829 | IEA:Ensembl | C | cytosol |
| GO:0005770 | IEA:Ensembl | C | late endosome |
| GO:0043325 | ISS:UniProtKB | F | phosphatidylinositol-3,4-bisphosphate binding |
| GO:0005546 | ISS:UniProtKB | F | phosphatidylinositol-4,5-bisphosphate binding |
| GO:0005215 | IEA:InterPro | F | transporter activity |
| GO:0008431 | ISS:UniProtKB | F | vitamin E binding |
| GO:0001892 | IEA:Ensembl | P | embryonic placenta development |
| GO:0046909 | ISS:UniProtKB | P | intermembrane transport |
| GO:0051452 | IEA:Ensembl | P | intracellular pH reduction |
| GO:0006629 | TAS:ProtInc | P | lipid metabolic process |
| GO:0060548 | IEA:Ensembl | P | negative regulation of cell death |
| GO:0090212 | IEA:Ensembl | P | negative regulation of establishment of blood-brain barrier |
| GO:0007584 | IEA:Ensembl | P | response to nutrient |
| GO:0009268 | IEA:Ensembl | P | response to pH |
| GO:0009636 | IEA:Ensembl | P | response to toxic substance |
| GO:0006810 | TAS:ProtInc | P | transport |
| GO:0042360 | IEA:Ensembl | P | vitamin E metabolic process |
| GO:0051180 | ISS:UniProtKB | P | vitamin transport |
Domain Information
UniProt Annotations
Entry Information
Gene Name
tocopherol (alpha) transfer protein
Protein Entry
TTPA_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Disease | Ataxia with isolated vitamin E deficiency (AVED) [MIM |
| Function | Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells. 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). |
| Similarity | Contains 1 CRAL-TRIO domain. {ECO |
| Subcellular Location | Cytoplasm. |
| Subunit | 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). |
Identical and Related Proteins
Unique RefSeq proteins for LMP001960 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4507723 | RefSeq | NP_000361 | 278 | alpha-tocopherol transfer protein |
Identical Sequences to LMP001960 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4507723 | GenBank | AAH58000.1 | 278 | Tocopherol (alpha) transfer protein [Homo sapiens] |
| GI:4507723 | GenBank | ADQ32097.1 | 278 | tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency), partial [synthetic construct] |
| GI:4507723 | GenBank | AHE01389.1 | 278 | Sequence 56305 from patent US 8586006 |
| GI:4507723 | PDB | 1OIP | 278 | Chain A, The Molecular Basis Of Vitamin E Retention: Structure Of Human Alpha-tocopherol Transfer Protein |
| GI:4507723 | PDB | 1OIZ | 278 | Chain A, The Molecular Basis Of Vitamin E Retention: Structure Of Human Alpha-Tocopherol Transfer Protein |
| GI:4507723 | PDB | 1OIZ | 278 | Chain B, The Molecular Basis Of Vitamin E Retention: Structure Of Human Alpha-Tocopherol Transfer Protein |
Related Sequences to LMP001960 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4507723 | GenBank | AAA64309.1 | 278 | alpha-tocopherol transfer protein [Homo sapiens] |
| GI:4507723 | RefSeq | XP_001092014.1 | 278 | PREDICTED: alpha-tocopherol transfer protein [Macaca mulatta] |
| GI:4507723 | RefSeq | XP_528150.2 | 278 | PREDICTED: alpha-tocopherol transfer protein [Pan troglodytes] |
| GI:4507723 | RefSeq | XP_003268397.1 | 278 | PREDICTED: alpha-tocopherol transfer protein [Nomascus leucogenys] |
| GI:4507723 | RefSeq | XP_003831429.1 | 278 | PREDICTED: alpha-tocopherol transfer protein [Pan paniscus] |
| GI:4507723 | RefSeq | XP_005563479.1 | 278 | PREDICTED: alpha-tocopherol transfer protein [Macaca fascicularis] |