Chimpanzee, Cynomolgus monkey, Macaque monkey
Recombinant fragment: AVSQELREGD PVSLSTPLET EFGSPSELSP RIEEQELSEN TSLPAEEANG SLSEEEANGP ELGSGKAMED TSGEPAAEDE GDTAWNYSFS QLPRFLSGS, corresponding to amino acids 62-160 of Human WDR79 (NP_060551), with a proprietary tag.
機能Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, it controls telomerase localization to Cajal body. Required for delivery of TERC to telomeres during S phase and for telomerase activity. Binds small Cajal body RNAs (scaRNAs). The mRNA encoding this protein plays a critical role in the regulation of p53 expression at the post-transcriptional level; it is involved both in maintaining basal p53 mRNA levels and in p53 induction upon DNA damage.
組織特異性Expressed in all tissues and cell lines examined.
関連疾患Defects in WRAP53 are the cause of dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988]. A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
配列類似性Contains 6 WD repeats.
翻訳後修飾Phosphorylated upon DNA damage, probably by ATM or ATR.