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TTPA tocopherol (alpha) transfer protein [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000370 Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006716468 PREDICTED: Homo sapiens tocopherol (alpha) transfer protein (TTPA), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol TTPA
Entrez Gene ID 7274
Full Name tocopherol (alpha) transfer protein
Synonyms ATTP, AVED, TTP1, alphaTTP
General protein information
Preferred Names
alpha-tocopherol transfer protein
Names
alpha-tocopherol transfer protein
alpha-TTP
tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

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].
Disorder

MIM: 600415

Ataxia with isolated vitamin E deficiency, 277460 (3)

mRNA Protein Product Sequence Price Select
NM_000370, 262359924 NP_000361, 4507723 alpha-tocopherol transfer protein ORF Sequence $300.00
XM_006716468, 578815702 XP_006716531, 578815703 alpha-tocopherol transfer protein isoform X1 ORF Sequence $250.00
Homo sapiens (human)TTPANP_000361.1
Pan troglodytes (chimpanzee)TTPAXP_528150.2
Macaca mulatta (Rhesus monkey)TTPAXP_001092014.1
Canis lupus familiaris (dog)TTPAXP_005638207.1
Bos taurus (cattle)TTPANP_001193605.1
Mus musculus (house mouse)TtpaNP_056582.1
Rattus norvegicus (Norway rat)TtpaNP_037180.1
Gallus gallus (chicken)TTPAXP_001234376.2
Danio rerio (zebrafish)ttpaNP_956025.2
Process
IDNameEvidence
GO:0001892embryonic placenta developmentIEA
GO:0006629lipid metabolic processTAS
GO:0006810transportTAS
GO:0007584response to nutrientIEA
GO:0009268response to pHIEA
GO:0009636response to toxic substanceIEA
GO:0042360vitamin E metabolic processIEA
GO:0046909intermembrane transportISS
GO:0051180vitamin transportISS
GO:0051452intracellular pH reductionIEA
GO:0060548negative regulation of cell deathIEA
GO:0090212negative regulation of establishment of blood-brain barrierIEA
Component
IDNameEvidence
GO:0005770late endosomeIEA
GO:0005829cytosolIEA
Function
IDNameEvidence
GO:0005215transporter activityIEA
GO:0005546phosphatidylinositol-4,5-bisphosphate bindingISS
GO:0008431vitamin E bindingISS
GO:0043325phosphatidylinositol-3,4-bisphosphate bindingISS
GeneCards TTPA
PDB 1OIZ, 1OIP, 1R5L
UniProt P49638
Vega OTTHUMG00000164367
MIM 600415
Ensembl ENSG00000137561
HGNC 12404
HPRD 02685

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TTPA gene?

The TTPA gene provides instructions for making the α-tocopherol transfer protein (αTTP), which is found in the liver and brain. This protein controls the distribution of vitamin E obtained from the diet (also called α-tocopherol) to cells and tissues throughout the body. Vitamin E is an antioxidant that protects cells in the body from the damaging effects of unstable molecules called free radicals. Normally, vitamin E derived from food is absorbed in the intestine and then transported into the liver on molecules called chylomicrons. After a meal, chylomicrons are formed to transport fat-soluble vitamins (such as vitamin E), dietary fats, and cholesterol from the intestine to the liver. Once in the liver, αTTP transfers vitamin E from chylomicrons to very low-density lipoproteins (VLDLs), which carry fat, fat-soluble vitamins, and cholesterol from the liver to other tissues throughout the body. The VLDLs are then released into the bloodstream so the accompanying vitamin E can be used in the body. The αTTP protein is also thought to transport vitamin E to nerve cells (neurons) in the brain.

Interactant

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