Homo sapiens Gene: TTPA
Summary
InnateDB Gene IDBG-23386.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TTPA
Gene Name tocopherol (alpha) transfer protein
Synonyms alphaTTP; ATTP; AVED; TTP1
Species Homo sapiens
Ensembl Gene ENSG00000137561
Encoded Proteins
tocopherol (alpha) transfer protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:63048553-63086053
Strand Reverse strand
Band q12.3
Transcripts
ENST00000260116 ENSP00000260116
ENST00000521138
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt P49638
TrEMBL
UniProt Splice Variant
Entrez Gene 7274
UniGene Hs.69049
RefSeq NM_000370
HUGO HGNC:12404
OMIM 600415
CCDS CCDS6178
HPRD
IMGT
EMBL AH006950 BC058000 D49488 U21938
GenPept AAA64309 AAC67490 AAH58000 BAA08449
RNA Seq Atlas 7274