Gene Summary: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorderGeneral information above from NCBI
Catalytic activity: D-glucose 6-phosphate + H(2)O = D-glucose + phosphate.
Enzyme regulation: Inhibited by vanadate.
Subunit structure: Homodimer (By similarity). Interacts with many nuclear hormone receptors and cofactors including AR, ESR1, ESR2, MC2R, NR3C1, NRIP1, PPARBP and THRA. Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm. Interacts with ARHGEF28 and CDK16 (By similarity). Weakly interacts with CDKN1B. Interacts with GAB2. Interacts with KCNK18 in a phosphorylation- dependent manner. Interacts with SAMSN1 (By similarity). Interacts with the 'Ser-241' phosphorylated form of PDPK1.
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue specificity: Expressed mainly in the brain and present in other tissues albeit at lower levels.
Post-translational: Phosphorylated on Ser-59 by protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion (By similarity).
Involvement in disease: Neutropenia severe congenital autosomal recessive 4 (SCN4) [MIM:612541]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Note=The disease is caused by mutations affecting the gene represented in this entry.
Dursun syndrome (DURSS) [MIM:612541]: A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the 14-3-3 family.C
General information above from UniProt