View source for 7bgb


==The H/ACA RNP lobe of human telomerase==
<StructureSection load='7bgb' size='340' side='right'caption='[[7bgb]], [[Resolution|resolution]] 3.39&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[7bgb]] is a 10 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7BGB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7BGB FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.39&#8491;</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7bgb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7bgb OCA], [https://pdbe.org/7bgb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7bgb RCSB], [https://www.ebi.ac.uk/pdbsum/7bgb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7bgb ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/TCAB1_HUMAN TCAB1_HUMAN] Dyskeratosis congenita. The disease is caused by variants affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/TCAB1_HUMAN TCAB1_HUMAN] RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29804836, PubMed:29695869). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) (PubMed:19285445, PubMed:20351177, PubMed:29804836, PubMed:29695869). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex (PubMed:27525486, PubMed:29804836). Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity (PubMed:29804836). In addition, also controls telomerase holoenzyme complex localization to Cajal body (PubMed:22547674). During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity (PubMed:29804836). In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies (PubMed:19285445, PubMed:21072240). Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks (PubMed:25512560, PubMed:27715493). Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) (PubMed:25512560, PubMed:27715493).<ref>PMID:19179534</ref> <ref>PMID:19285445</ref> <ref>PMID:20351177</ref> <ref>PMID:21072240</ref> <ref>PMID:22547674</ref> <ref>PMID:25512560</ref> <ref>PMID:26170453</ref> <ref>PMID:27525486</ref> <ref>PMID:27715493</ref> <ref>PMID:29695869</ref> <ref>PMID:29804836</ref> 

==See Also==
*[[Telomerase 3D structures|Telomerase 3D structures]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Collins K]]
[[Category: Das R]]
[[Category: Fountain AJ]]
[[Category: Ghanim GE]]
[[Category: Nguyen THD]]
[[Category: Rangan R]]
[[Category: Van Roon AMM]]