TTPA
entrez
7274
canonical
uniprot
P49638
canonical
ensembl
ENSG00000137561
resolver
ensp
ENSP00000260116
resolver
ensp
ENSP00000548751
resolver
ensp
ENSP00000548752
resolver
ensp
ENSP00000548755
resolver
ensp
ENSP00000665672
resolver
enst
ENST00000260116
resolver
genesymbol
TTPA
resolver
genesymbol_syn
TPP1
resolver
hgnc
HGNC:12404
resolver
uniprot
Q71V64
resolver
uniprot_entry
TTPA_HUMAN
resolver
uniprot_sec
Q71V64
resolver
amino_acid_sequence
MAEARSQPSAGPQLNALPDHSPLLQPGLAALRRRAREAGVPLAPLPLTDSFLLRFLRARDFDLDLAWRLLKNYYKWRAECPEISADLHPRSIIGLLKAGYHGVLRSRDPTGSKVLIYRIAHWDPKVFTAYDVFRVSLITSELIVQEVETQRNGIKAIFDLEGWQFSHAFQITPSVAKKIAAVLTDSFPLKVRGIHLINEPVIFHAVFSMIKPFLTEKIKERIHMHGNNYKQSLLQHFPDILPLEYGGEEFSMEDICQEWTNFIMKSEDYLSSISESIQ
uniprot
proteins
disease_involvement
DISEASE: Ataxia with vitamin E deficiency (AVED) [MIM:277460]: An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss. {ECO:0000269|PubMed:15065857, ECO:0000269|PubMed:15300460, ECO:0000269|PubMed:7566022, ECO:0000269|PubMed:8602747, ECO:0000269|PubMed:9463307}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity). {ECO:0000250, ECO:0000269|PubMed:7887897}.
uniprot
proteins
mass_dalton
31750
uniprot
proteins
pubmed
12899840
uniprot
proteins
pubmed
14657365
uniprot
proteins
pubmed
15065857
uniprot
proteins
pubmed
15300460
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7566022
uniprot
proteins
pubmed
7719340
uniprot
proteins
pubmed
7887897
uniprot
proteins
pubmed
8602747
uniprot
proteins
pubmed
9463307
uniprot
proteins
sequence_length
278
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7887897}.
uniprot
proteins