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Ttpa Gene Detail
Summary
  • Symbol
    Ttpa
  • Name
    tocopherol (alpha) transfer protein
  • Synonyms
    alpha TTP, alpha-TTP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354168
    NCBI Gene: 50500
Location & Maps
more
  • Sequence Map
    Chr4:20007938-20030785 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22848 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    TTPA, tocopherol (alpha) transfer protein
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TTPA, tocopherol (alpha) transfer protein
    Orthology source: HGNC, HomoloGene
  • Synonyms
    alphaTTP, ATTP, AVED, TTP1
  • Links
    NCBI Gene ID: 7274
    neXtProt AC: NX_P49638

  • Chr Location
    8q12.3; chr8:63059488-63086100 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ttpa mouse models; 1 with human TTPA associations

Human Disease Mouse Models
       Vitamin E, Familial Isolated Deficiency Of; VED   OMIM: 277460 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    4 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Gene trapped
    11
  • Targeted
    4
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit vitamin E deficiency. Placentas from pregnant females have reduced labyrinthine trophoblasts resulting in midgestational embryonic lethality. Homozygotes for one targeted null allele display late-onset ataxia and retinal degeneration.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006384 VEGA Gene Model | MGI Sequence Detail 22848 C57BL/6J ±  kb
transcript OTTMUST00000014515 VEGA | MGI Sequence Detail 3123 Not Applicable  
polypeptide OTTMUSP00000020367 VEGA | MGI Sequence Detail 262 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    101 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000016799 alpha-tocopherol transfer protein
  • PDB
  • InterPro Domains
    IPR001071 Cellular retinaldehyde binding/alpha-tocopherol transport
    IPR001251 CRAL-TRIO lipid binding domain
    IPR011074 CRAL/TRIO, N-terminal domain
Molecular
Reagents
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  • All nucleic 41
    Genomic 1
    cDNA 38
    Primer pair 2

    Microarray probesets 4
References
more
  • Summaries
    All 49
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 8
    Phenotypes 23
  • Earliest
    J:58384 Terasawa Y, et al., Apolipoprotein B-related gene expression and ultrastructural characteristics of lipoprotein secretion in mouse yolk sac during embryonic development. J Lipid Res. 1999 Nov;40(11):1967-77
  • Latest
    J:208020 Ulatowski L, et al., Vitamin E is essential for Purkinje neuron integrity. Neuroscience. 2014 Feb 28;260:120-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory