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YWHAH  タンパク質

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YWHAH サマリー & タンパク質情報

YWHAH 背景

遺伝子の概要: 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 disorder
General information above from NCBI
触媒活性: D-glucose 6-phosphate + H(2)O = D-glucose + phosphate.
酵素調節: Inhibited by vanadate.
サブユニット構造: 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. {ECO:0000250, ECO:0000269|PubMed:11266503, ECO:0000269|PubMed:12177059, ECO:0000269|PubMed:14504289, ECO:0000269|PubMed:15696159, ECO:0000269|PubMed:17085597, ECO:0000269|PubMed:19172738}.
細胞内位置: Endoplasmic reticulum membrane; Multi-pass membrane protein.
組織特異性: Expressed mainly in the brain and present in other tissues albeit at lower levels.
翻訳後: Phosphorylated on Ser-59 by protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion. {ECO:0000250}.
疾患関連性: 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.
シーケンスの類似性: Belongs to the 14-3-3 family. {ECO:0000305}.
General information above from UniProt

YWHAH 代替名

YWHA1, [homo-sapiens]
14-3-3 eta,LL22NC03-44A4.1,YWHA1,YWHAH, [human]
14-3-3 protein eta,Ywhah,OTTMUSP00000017560,14-3-3 eta, [mouse]

YWHAH 関連研究

  • Wakui H, et al. (1997) Interaction of the ligand-activated glucocorticoid receptor with the 14-3-3 eta protein. J Biol Chem. 272(13): 8153-6.
  • Toyooka K, et al. (2002) Isolation and structure of the mouse 14-3-3 eta chain gene and the distribution of 14-3-3 eta mRNA in the mouse brain. Brain Res Mol Brain Res. 100(1-2): 13-20.
  • Kim YS, et al. (2005) Role of 14-3-3 eta as a positive regulator of the glucocorticoid receptor transcriptional activation. Endocrinology. 146(7): 3133-40.
  • Grover D, et al. (2009) Family-based association of YWHAH in psychotic bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 150B(7): 977-83.
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