TTPA (alpha tocopherol transfer protein)

2009-04-01 Affiliation

Identity

HGNC

TTPA

LOCATION

8q12.3

LOCUSID

7274

ALIAS

ATTP,AVED,TTP1,alphaTTP

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7274
MIM: 600415
HGNC: 12404
Ensembl: ENSG00000137561

Variants:

dbSNP: 7274
ClinVar: 7274
TCGA: ENSG00000137561
COSMIC: TTPA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000137561	ENST00000260116	P49638

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
12899840	2003	The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein.	41
23599266	2013	Impaired α-TTP-PIPs interaction underlies familial vitamin E deficiency.	39
14657365	2003	Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency.	37
15300460	2004	Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.	23
19190344	2009	Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk.	21
19190344	2009	Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk.	21
18458085	2008	Mechanisms of ligand transfer by the hepatic tocopherol transfer protein.	17
16819822	2006	Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein.	13
23079030	2012	Expression of the α-tocopherol transfer protein gene is regulated by oxidative stress and common single-nucleotide polymorphisms.	13
15065857	2004	Molecular determinants of heritable vitamin E deficiency.	12

Citation

Dessen P

TTPA (alpha tocopherol transfer protein)

Atlas Genet Cytogenet Oncol Haematol. 2009-04-01

Online version: http://atlasgeneticsoncology.org/gene/50857/ttpa