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FLASH GENE
Symbol TTPA contributors: - updated : 25-04-2005
HGNC name tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
HGNC id 12404
Corresponding disease
AVED adult-onset spinocerebellar ataxia
Location 8q13      Physical location : 63.972.047 - 63.998.612
Synonym symbol(s) TTP1, alphaTTP
DNA
TYPE functioning gene
STRUCTURE 25.00 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
CA8 8q11-q12 carbonic anhydrase VIII LOC392225 8 similar to IAP-associated factor VIAF1; phosducin-like 2 RAB2 8q12.1 RAB2, member RAS oncogene family KIAA1416 8q12.1 KIAA1416 protein LOC282694 LOC157813 8q12.2 hypothetical LOC157813 NPM1P6 8q12.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 MGC34646 8q12.2 hypothetical protein MGC34646 ASPH 8q12.1 aspartate beta-hydroxylase LOC392226 8 similar to Serine/threonine-protein kinase PLK (PLK-1) (Serine-threonine protein kinase 13) (STPK13) FLJ39630 8q12.2 hypothetical protein FLJ39630 GGH 8q12-q13 gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) TTPA 8q13 tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) FLJ31657 8q12.2 hypothetical protein FLJ31657 LOC346974 8q12.3 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) BHLHB5 8q13 basic helix-loop-helix domain containing, class B, 5 CYP7B1 8q21.3 cytochrome P450, family 7, subfamily B, polypeptide 1 LOC389665 8 LOC389665 LOC392227 8 similar to peptidylprolyl isomerase A FLJ10511 8q12.3 armadillo repeat containing protein CHPPR 8q12.3 likely ortholog of chicken chondrocyte protein with a poly-proline region PDE7A 8q13 phosphodiesterase 7A MGC26226 8q12.3 beta cysteine string protein RNF29 8q12.3 ring finger protein 29 CRH 8q13 corticotropin releasing hormone RRS1 8q12.3 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) ADHFE1 8q12.3 alcohol dehydrogenase, iron containing, 1 MGC33510 8q12.3 hypothetical protein MGC33510 MYBL1 8q22 v-myb myeloblastosis viral oncogene homolog (avian)-like 1 VCIP135 8q13 valosin-containing protein (p97)/p47 complex-interacting protein p135 FLJ11267 8q13.1 hypothetical protein FLJ11267 PTTG3 8q13.1 hypothetical protein FLJ11267 SGKL 8q12.3-q13.1 serum/glucocorticoid regulated kinase-like FLJ25692 8q13.1 hypothetical protein FLJ25692
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine   
 liver    
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one CRAL-TRIO domain
HOMOLOGY
interspecies homolog to murine Ttpa
homolog to rattus Ttpa
Homologene
FAMILY
CATEGORY transport carrier
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
basic FUNCTION liver protein responsible for the selective retention of alpha-tocopherol from dietary vitamin E
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling sensory transduction/vision
a component
INTERACTION
DNA
RNA
small molecule
protein binding alpha-tocopherol
cell & other
REGULATION
ASSOCIATED DISORDERS
corresponding disease(s) AVED
related resource Retinal Information Network
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS