Acd (基因名), Adrenocortical dysplasia protein homolog (蛋白名), ACD_RAT.
Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Forms heterodimers with POT1. Identified in a complex with POT1 and single-stranded telomeric DNA. Interacts with STN1 and TINF2.
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by recruiting telomerase to telomeres and increasing its processivity. May play a role in organogenesis.
Nucleus Chromosome Telomere
MSNSGRLVLR | PWIRELILGS | ETLSSPQAGH | LLKVLQDSET | PGPSSAPDTP |
DTGAVLLVSD | GTHSVRCVVT | RNAIDTSDWE | EKEFGFRGTE | GRLLLLQACG |
LRIQVAQDYA | PAEFYLQVDR | FNLLPTEQPR | VQVTGCNQDS | DVQKKLNKCL |
EDHLSESASS | SAGLTLSQLL | DEVKEDGDHR | GALVRLAESC | LVLQGPFTAR |
PLTHWATSCS | QATEEAVFTV | PSFLLHISEN | EEQILSSIDS | SQKAQENPAS |
PSLMPQEESG | ASVSLLSALP | TSDPGQKDNS | QPPPTVCSTS | PRAQAPSSTP |
CSSTPSSPLL | TCSPSLSPLR | HAPTSYQACE | TRTQFHKLEF | RELQWPIKRR |
QLLPRTGAQE | PHSVWEPPER | HRDTSAFQYK | YGTPSASLHT | QVQTARLSPQ |
LVAWALNIVM | ESELPQV
"PTOP interacts with POT1 and regulates its localization to telomeres."
"POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex."
"TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres."
"Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins."
"Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1."
"Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study."
"Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis."
"OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation."
"The POT1-TPP1 telomere complex is a telomerase processivity factor."
"Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes."
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