Homo sapiens Protein: TTPA
Summary
InnateDB Protein IDBP-23388.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TTPA
Protein Name tocopherol (alpha) transfer protein
Synonyms alphaTTP; ATTP; AVED; TTP1;
Species Homo sapiens
Ensembl Protein ENSP00000260116
InnateDB Gene IDBG-23386 (TTPA)
Protein Structure
UniProt Annotation
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). {ECO:0000250}.
Subcellular Localization Cytoplasm.
Disease Associations 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:0000269PubMed:15300460, ECO:0000269PubMed:7566022, ECO:0000269PubMed:8602747, ECO:0000269PubMed:9463307}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0008431 vitamin E binding
GO:0019842 vitamin binding
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding
Biological Process
GO:0001890 placenta development
GO:0001892 embryonic placenta development
GO:0006629 lipid metabolic process
GO:0006810 transport
GO:0007584 response to nutrient
GO:0009268 response to pH
GO:0009636 response to toxic substance
GO:0032502 developmental process
GO:0042360 vitamin E metabolic process
GO:0046909 intermembrane transport
GO:0051180 vitamin transport
GO:0051452 intracellular pH reduction
GO:0060548 negative regulation of cell death
GO:0090212 negative regulation of establishment of blood-brain barrier
Cellular Component
GO:0005770 late endosome
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR001071 Cellular retinaldehyde binding/alpha-tocopherol transport
IPR001251 CRAL-TRIO domain
IPR011074 CRAL/TRIO, N-terminal domain
PFAM PF00650
PF13716
PF03765
PRINTS PR00180
PIRSF
SMART SM00516
SM01100
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P49638
PhosphoSite PhosphoSite-P49638
TrEMBL
UniProt Splice Variant
Entrez Gene 7274
UniGene Hs.69049
RefSeq NP_000361
HUGO HGNC:12404
OMIM 600415
CCDS CCDS6178
HPRD 02685
IMGT
EMBL AH006950 BC058000 D49488 U21938
GenPept AAA64309 AAC67490 AAH58000 BAA08449