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Q9ULT0 Proteins with TPR Repeats
Uniprot ID: Q9ULT0
Protein name : Tetratricopeptide repeat protein 7A
Gene : TTC7A KIAA1140 TTC7
Protein Families :
Squence Length : 858
Sequence
>Q9ULT0 859 MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQQLAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL
Repeat regions
REPEAT 121 157 TPR 1 REPEAT 177 210 TPR 2 REPEAT 414 447 TPR 3 REPEAT 497 531 TPR 4 REPEAT 533 565 TPR 5 REPEAT 566 599 TPR 6 REPEAT 745 778 TPR 7 REPEAT 780 812 TPR 8 REPEAT 813 846 TPR 9
Sequence region of repeats
121- 157 AMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPL 177- 210 LPNSIASRFRLTEREEEVITCFERASWIAQVFLQ 414- 447 LWYQVALSMVACGKSAYAVSLLRECVKLRPSDPT 497- 531 LQATDATLKSKQDELHRKALQTLERAQQLAPSDPQ 533- 565 ILYVSLQLALVRQISSAMEQLQEALKVRKDDAH 566- 599 ALHLLALLFSAQKHHQHALDVVNMAITEHPENFN 745- 778 VLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVR 780- 812 MHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHE 813- 846 AWQGLGEVLQAQGQNEAAVDCFLTALELEASSPV
Function
"Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity)"
Disease
"DISEASE: Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]: A rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure Surgical interventions are palliative but do not provide long-term survival Severe immunodeficiency may be associated with the phenotype Note=The disease is caused by mutations affecting the gene represented in this entry Phenotypic variations have been observed: the mildest case show intestinal aberrations consisting of bloody diarrhea, apoptotic enterocolitis, and acute graft-versus-host disease- (GVHD)-like symptoms, but no atresias (PubMed:25546680) Other patients show multiple intestinal atresias, some being associated with immunodeficiency syndrome, while other do not show immunodeficiency defects (PubMed:23423984)"