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

Gene ID: 50500, updated on 6-Jun-2024

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
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Genomic context

See Ttpa in Genome Data Viewer
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_000070.7Genomic Context describing neighboring genes Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit D2 Neighboring gene STARR-seq mESC enhancer starr_09703 Neighboring gene RIKEN cDNA 4930480G23 gene Neighboring gene STARR-seq mESC enhancer starr_09704 Neighboring gene STARR-seq mESC enhancer starr_09707 Neighboring gene RIKEN cDNA 4930598A11 gene Neighboring gene gamma-glutamyl hydrolase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (3)  1 citation

Pathways from PubChem

General gene information

Markers

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
 
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

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)

  1. NM_001317723.2NP_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:30179
    CRAL_TRIO; CRAL/TRIO domain
  2. NM_001424980.1NP_001411909.1  alpha-tocopherol transfer protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL732527
    UniProtKB/TrEMBL
    A8Y5N9, Q8QZU5
  3. NM_015767.6NP_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:2573
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:99248
    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

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    20007889..20030823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam00650
    Location:68217
    CRAL_TRIO; CRAL/TRIO domain