7pyv: Difference between revisions

</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=7pyv FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7pyv OCA], [https://pdbe.org/7pyv PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7pyv RCSB], [https://www.ebi.ac.uk/pdbsum/7pyv PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7pyv ProSAT]</span></td></tr>

[[https://www.uniprot.org/uniprot/UBA1_HUMAN UBA1_HUMAN]] X-linked distal arthrogryposis multiplex congenita. The disease is caused by mutations affecting the gene represented in this entry.

[[https://www.uniprot.org/uniprot/UBA1_HUMAN UBA1_HUMAN]] Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system. Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites.<ref>PMID:22456334</ref> [[https://www.uniprot.org/uniprot/UBA6_HUMAN UBA6_HUMAN]] Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis and male fertility.<ref>PMID:15202508</ref> <ref>PMID:17597759</ref> <ref>PMID:17889673</ref>