Human Gene TTC7A (ENST00000319190.11_8) from GENCODE V45lift37
Description: Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), transcript variant 2, mRNA. (from RefSeq NM_020458) RefSeq Summary (NM_020458): This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. Gencode Transcript: ENST00000319190.11_8 Gencode Gene: ENSG00000068724.18_15 Transcript (Including UTRs) Position: hg19 chr2:47,168,363-47,303,262 Size: 134,900 Total Exon Count: 20 Strand: + Coding Region Position: hg19 chr2:47,168,681-47,301,062 Size: 132,382 Coding Exon Count: 20
ID:TTC7A_HUMAN DESCRIPTION: RecName: Full=Tetratricopeptide repeat protein 7A ; Short=TPR repeat protein 7A ; 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 HYCC1, via direct interactions (By similarity). SUBUNIT: Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2) (PubMed:24417819). Interacts with PI4KA (PubMed:34415310). Interaction with PI4KA is direct (By similarity). Interacts with EFR3 (EFR3A or EFR3B), interaction is direct (By similarity). Interacts with HYCC (HYCC1 or HYCC2), interaction is direct (By similarity). Association with the PI4K complex is strongly reduced by TMEM150A (By similarity). INTERACTION: Q9ULT0; O95071: UBR5; NbExp=4; IntAct=EBI-2844096, EBI-358329; SUBCELLULAR LOCATION: Cytoplasm Cell membrane Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with EFR3 (EFR3A or EFR3B). TISSUE SPECIFICITY: Expressed in epithelial cells of the intestine, thymus, and pancreas (at protein level). DISEASE: Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150]: An autosomal recessive 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. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency. te=The disease is caused by variants 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). MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. SEQUENCE CAUTION: Sequence=BAA86454.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence=;
Cholesterol Mathew J Barber et al. PloS one 2011, Genome-wide association of lipid-lowering response to statins in combined study populations., PloS one.
[PubMed 20339536]
Using combined GWA analysis from three clinical trials involving nearly 4,000 individuals treated with simvastatin, pravastatin, or atorvastatin, we have identified SNPs that may be associated with variation in the magnitude of statin-mediated reduction in total and LDL-cholesterol, including one in the CLMN gene for which statistical evidence for association exceeds conventional levels of genome-wide significance.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9ULT0
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Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0006879 cellular iron ion homeostasis GO:0030097 hemopoiesis GO:0046854 phosphatidylinositol phosphorylation GO:0072659 protein localization to plasma membrane
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
