Ttpa tocopherol (alpha) transfer protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ttpaprovided by MGI
Official Full Name: tocopherol (alpha) transfer proteinprovided by MGI
Primary source: MGI:MGI:1354168
See related: Ensembl:ENSMUSG00000073988 AllianceGenome:MGI:1354168
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: alpha-TTP
Summary: Enables anion binding activity; lipid transfer activity; and vitamin E binding activity. Involved in several processes, including intermembrane lipid transfer; negative regulation of establishment of blood-brain barrier; and vitamin transport. Acts upstream of or within embryonic placenta development; positive regulation of amyloid-beta clearance; and vitamin E metabolic process. Predicted to be located in cytosol. Predicted to be active in late endosome. Is expressed in liver; placenta; uterus; and yolk sac. Used to study familial isolated deficiency of vitamin E. Human ortholog(s) of this gene implicated in familial isolated deficiency of vitamin E. Orthologous to human TTPA (alpha tocopherol transfer protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 49.2) and liver E18 (RPKM 17.0) See more
Orthologs: human all
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Genomic context

Location:: 4 A3; 4 7.76 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (20007889..20030823)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (20007894..20030822)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The tocopherol transfer protein mediates vitamin E trafficking between cerebellar astrocytes and neurons.
Title: The tocopherol transfer protein mediates vitamin E trafficking between cerebellar astrocytes and neurons.
alpha-Tocomonoenol Is Bioavailable in Mice and May Partly Be Regulated by the Function of the Hepatic alphaTocopherol Transfer Protein.
Title: α-Tocomonoenol Is Bioavailable in Mice and May Partly Be Regulated by the Function of the Hepatic α‑Tocopherol Transfer Protein.
The presence of alphaTTP and SVCT2 in brain regions implicated in learning, memory and motor control provides an anatomical basis that may explain the higher resistance of this animal model to brain oxidative stress, which is associated with better motor performance and learning abilities in old age.
Title: Vitamin transporters in mice brain with aging.
alpha-TTP protects against CQ toxicity by preventing CQ accumulation in acidic organelles through a mechanism distinct from vitamin E transport.
Title: A novel role for α-tocopherol transfer protein (α-TTP) in protecting against chloroquine toxicity.
Results suggest that lipid peroxidation due to depletion of alpha-tocopherol impairs Abeta clearances from the brain and from the blood, possibly causing increased Abeta accumulation in Ttpa(-/-)APPsw brain and plasma.
Title: Depletion of vitamin E increases amyloid beta accumulation by decreasing its clearances from brain and blood in a mouse model of Alzheimer disease.
Increase expression of tPA implicate fibrinolysis in ALD progression.
Title: Direct effects of alcohol on hepatic fibrinolytic balance: implications for alcoholic liver disease.
The results show that both gender and the hepatic alpha-TTP, but not brain alpha-TTP gene expression are important in determining alpha-T concentrations within the brain.
Title: Mice lacking alpha-tocopherol transfer protein gene have severe alpha-tocopherol deficiency in multiple regions of the central nervous system.
alpha-tocopherol deficiency decreases oxidative stress and unmasks alpha-tocopherol-dependent regulation of mitochondrial function in the brain
Title: Prolonged alpha-tocopherol deficiency decreases oxidative stress and unmasks alpha-tocopherol-dependent regulation of mitochondrial function in the brain.
These data suggest that in vivo network of alpha-tocopherol (AT), AT-metabolites and ATTP affects the transcription of genes driven by AhR, Nrf2 and NF-kappaB, transcription factor networks.
Title: Tocopherol transfer protein deficiency modifies nuclear receptor transcriptional networks in lungs: modulation by cigarette smoke in vivo.
changes in hepatic TTP concentrations were minimal in response to dietary vitamin E levels or environmental tobacco smoke-related oxidative stress
Title: Regulation of the alpha-tocopherol transfer protein in mice: lack of response to dietary vitamin E or oxidative stress.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

D17Jpk4 (e-PCR), detects polymorphism
- UniSTS:142126

Ttpa (e-PCR), detects polymorphism
- UniSTS:259510

AA416453 (e-PCR)
- UniSTS:185573

NoName (e-PCR)
- UniSTS:489199

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables lipid transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables vitamin E binding	IBA Inferred from Biological aspect of Ancestor more info
enables vitamin E binding	IDA Inferred from Direct Assay more info	PubMed
enables vitamin E binding	ISO Inferred from Sequence Orthology more info
enables vitamin E binding	TAS Traceable Author Statement more info	PubMed
enables vitamin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within embryonic placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermembrane lipid transfer	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular pH reduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of establishment of blood-brain barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of amyloid-beta clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to pH	ISO Inferred from Sequence Orthology more info
involved_in response to toxic substance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vitamin E metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vitamin E metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vitamin E metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vitamin transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alpha-tocopherol transfer protein

Names: alpha TTP

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317723.2 → NP_001304652.1 alpha-tocopherol transfer protein isoform 2

Status: VALIDATED

Source sequence(s)

AL732527

Consensus CDS

CCDS84707.1

UniProtKB/TrEMBL

A8Y5N9, Q8QZU5

Related

ENSMUSP00000113966.2, ENSMUST00000121491.8

Conserved Domains (1) summary

pfam00650
Location:30 → 179

CRAL_TRIO; CRAL/TRIO domain
NM_001424980.1 → NP_001411909.1 alpha-tocopherol transfer protein isoform 2

Status: VALIDATED

Source sequence(s)

AL732527

UniProtKB/TrEMBL

A8Y5N9
NM_015767.6 → NP_056582.1 alpha-tocopherol transfer protein isoform 1

See identical proteins and their annotated locations for NP_056582.1

Status: VALIDATED

Source sequence(s)

AL732527

Consensus CDS

CCDS17995.1

UniProtKB/Swiss-Prot

Q8BWP5, Q9CW51, Q9JL07

UniProtKB/TrEMBL

Q499J1, Q499J3

Related

ENSMUSP00000095845.2, ENSMUST00000098244.2

Conserved Domains (2) summary

smart01100
Location:25 → 73

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

pfam00650
Location:99 → 248

CRAL_TRIO; CRAL/TRIO domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

20007889..20030823

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164225.1 → XP_036020118.1 alpha-tocopherol transfer protein isoform X1

UniProtKB/TrEMBL

Q8QZU5

Conserved Domains (1) summary

pfam00650
Location:68 → 217

CRAL_TRIO; CRAL/TRIO domain