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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
  • Candidate for QTL
    5 QTL
Location &
Maps
more
  • Sequence Map
    Chr4:20007938-20030785 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 7.76 cM, cytoband A3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    839 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354168
 protein coding gene Chr4:20007889-20030823 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028086
 protein coding gene Chr4:17011849-17038885 (+)
A/J MGP_AJ_G0028044
 protein coding gene Chr4:16561751-16585620 (+)
AKR/J MGP_AKRJ_G0028009
 protein coding gene Chr4:16925373-16949475 (+)
BALB/cJ MGP_BALBcJ_G0028055
 protein coding gene Chr4:16539935-16562870 (+)
C3H/HeJ MGP_C3HHeJ_G0027785
 protein coding gene Chr4:17034040-17055130 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028498
 protein coding gene Chr4:17714887-17738668 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025840
 protein coding gene Chr4:15336730-15360449 (+)
CAST/EiJ MGP_CASTEiJ_G0027240
 protein coding gene Chr4:16853819-16879972 (+)
CBA/J MGP_CBAJ_G0027758
 protein coding gene Chr4:18224774-18250866 (+)
DBA/2J MGP_DBA2J_G0027901
 protein coding gene Chr4:16377314-16402600 (+)
FVB/NJ MGP_FVBNJ_G0027867
 protein coding gene Chr4:16105472-16126008 (+)
LP/J MGP_LPJ_G0028010
 protein coding gene Chr4:17071966-17094957 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027900
 protein coding gene Chr4:19282509-19305724 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028557
 protein coding gene Chr4:16817869-16848026 (+)
PWK/PhJ MGP_PWKPhJ_G0026960
 protein coding gene Chr4:16276948-16305337 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026789
 protein coding gene Chr4:16694491-16719846 (+)
WSB/EiJ MGP_WSBEiJ_G0027317
 protein coding gene Chr4:16860063-16881815 (+)



Homology
more
  • Human Ortholog
    TTPA, alpha tocopherol transfer protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TTPA, alpha tocopherol transfer protein
  • Synonyms
    alphaTTP, ATTP, AVED, TTP1
  • Links
    NCBI Gene ID: 7274
    neXtProt AC: NX_P49638
    UniProt: P49638

  • Chr Location
    8q12.3; chr8:63048553-63086053 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ttpa mouse models; 1 with human TTPA associations

Human Disease Mouse Models
      
IDs
 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
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    4 images
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    28
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    811
  • Tissues
    20
  • cDNA Data
    37
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000073988 Ensembl Gene Model | MGI Sequence Detail 22848 C57BL/6J ±  kb
    transcript ENSMUST00000098244 Ensembl | MGI Sequence Detail 3053 Not Applicable  
    polypeptide ENSMUSP00000095845 Ensembl | MGI Sequence Detail 278 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 2
      cDNA 38
      Primer pair 2

      Microarray probesets 4
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 8
      Phenotypes 29
    • 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:325264 Irias-Mata A, et al., alpha-Tocomonoenol Is Bioavailable in Mice and May Partly Be Regulated by the Function of the Hepatic alphaTocopherol Transfer Protein. Molecules. 2020 Oct 19;25(20)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory