• Gene id: 7274

Gene Summary

• Gene Symbol: TTPA   Gene   UCSC   Ensembl
• Aliases: ATTP, AVED, TTP1, alphaTTP
• Gene name: alpha tocopherol transfer protein
• Alternate names: alpha-tocopherol transfer protein, alpha-TTP, tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency),
• Gene location: 8q12.3 (63086522: 63059487)     Exons: 18     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 600415

Protein Summary

• Protein general information: P49638  
  • Name: Alpha tocopherol transfer protein (Alpha TTP)
  • Length: 278  
  • Mass: 31750
• Sequence:

  MAEARSQPSAGPQLNALPDHSPLLQPGLAALRRRAREAGVPLAPLPLTDSFLLRFLRARDFDLDLAWRLLKNYYK
  WRAECPEISADLHPRSIIGLLKAGYHGVLRSRDPTGSKVLIYRIAHWDPKVFTAYDVFRVSLITSELIVQEVETQ
  RNGIKAIFDLEGWQFSHAFQITPSVAKKIAAVLTDSFPLKVRGIHLINEPVIFHAVFSMIKPFLTEKIKERIHMH
  GNNYKQSLLQHFPDILPLEYGGEEFSMEDICQEWTNFIMKSEDYLSSISESIQ

• Structural information:
  • Protein Domains: (88..25-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056"-)
  • Interpro: IPR001251  IPR036865  IPR011074  IPR036273  
  • Prosite: PS50191
  • CDD: cd00170
  • PDB: 1OIP 1OIZ 1R5L 5MUE 5MUG
  • PDBsum: 1OIP 1OIZ 1R5L 5MUE 5MUG
  • STRING: ENSP00000260116
• Other Databases: GeneCards:  TTPA  Malacards:  TTPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902936	phosphatidylinositol bisphosphate binding	IBA	molecular function
GO:0008431	vitamin E binding	IBA	molecular function
GO:0120013	lipid transfer activity	IBA	molecular function
GO:0051180	vitamin transport	IBA	biological process
GO:0042360	vitamin E metabolic process	IBA	biological process
GO:0005770	late endosome	IBA	cellular component
GO:0120009	intermembrane lipid transfer	ISS	biological process
GO:0008431	vitamin E binding	ISS	molecular function
GO:0051180	vitamin transport	ISS	biological process
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	ISS	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008431	vitamin E binding	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0042360	vitamin E metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0008431	vitamin E binding	IEA	molecular function
GO:0001890	placenta development	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0032502	developmental process	IEA	biological process
GO:0009268	response to pH	IEA	biological process
GO:0008431	vitamin E binding	IEA	molecular function
GO:0007584	response to nutrient	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0120013	lipid transfer activity	IEA	molecular function
GO:0090212	negative regulation of establishment of blood-brain barrier	IEA	biological process
GO:0051180	vitamin transport	IEA	biological process
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IEA	molecular function
GO:0042360	vitamin E metabolic process	IEA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	molecular function
GO:0001892	embryonic placenta development	IEA	biological process
GO:0051452	intracellular pH reduction	IEA	biological process
GO:0042360	vitamin E metabolic process	IEA	biological process
GO:0019842	vitamin binding	IEA	molecular function
GO:0005770	late endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Ataxia with isolated vitamin E deficiency	KEGG:H00981
Ataxia with isolated vitamin E deficiency	KEGG:H00981
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)