Entrez Summary: 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].
UniProt Summary: 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). {ECO:0000250|UniProtKB:Q86TV6, ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:24417819}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
phosphatidylinositol phosphorylation
cellular iron ion homeostasis
lipid phosphorylation
iron ion homeostasis
cellular transition metal ion homeostasis
transition metal ion homeostasis
phosphatidylinositol metabolic process
protein localization to plasma membrane
lipid modification
protein localization to cell periphery
glycerophospholipid metabolic process
phospholipid metabolic process
glycerolipid metabolic process
protein localization to membrane
cellular metal ion homeostasis
hemopoiesis
hematopoietic or lymphoid organ development
metal ion homeostasis
cellular cation homeostasis
cellular ion homeostasis
immune system development
cation homeostasis
inorganic ion homeostasis
cellular chemical homeostasis
ion homeostasis
organophosphate metabolic process
cellular homeostasis
cellular lipid metabolic process
chemical homeostasis
lipid metabolic process
phosphorylation
cellular protein localization
cellular macromolecule localization
homeostatic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)