Homo sapiens Gene: TTPA

Summary
InnateDB Gene IDBG-23386.4
Last Modified 2011-02-17   [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
IDBP-23388 tocopherol (alpha) transfer protein
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: 63961112-63998612
Strand Reverse strand
Band q12.3
Transcripts
ENST00000260116  ENSP00000260116
ENST00000521138 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein‑Protein  2
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005215 transporter activity
GO:0008431 vitamin E binding
GO:0019842 vitamin 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 toxin
GO:0032502 developmental process
GO:0042360 vitamin E metabolic process
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 Method Confidence Comments
ENSMUSG00000073988 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000022471 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P49638 
TrEMBL
UniProt Splice Variant
Entrez Gene 7274 
UniGene Hs.69049
RefSeq NM_000370 
HUGO 12404 
OMIM 600415
CCDS CCDS6178 
HPRD 02685
IMGT
EMBL AH006950 BC058000 D49488 U21938
GenPept AAA64309  AAC67490  AAH58000  BAA08449 
ImmGen TTPA (murine) 
RNA Seq Atlas 7274