Aliases for UBA6 Gene
External Ids for UBA6 Gene
Previous HGNC Symbols for UBA6 Gene
Previous GeneCards Identifiers for UBA6 Gene
Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]
GeneCards Summary for UBA6 Gene
UBA6 (Ubiquitin Like Modifier Activating Enzyme 6) is a Protein Coding gene. Diseases associated with UBA6 include Ichthyosis, Congenital, Autosomal Recessive 4A and Johanson-Blizzard Syndrome. Among its related pathways are Metabolism of proteins and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and FAT10 activating enzyme activity. An important paralog of this gene is UBA1.
UniProtKB/Swiss-Prot Summary for UBA6 Gene
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.