DISEASES

Disease-gene associations mined from literature

Literature on MUL1

MUL1 [ENSP00000264198]

Mitochondrial ubiquitin ligase activator of NFKB 1; Exhibits weak E3 ubiquitin-protein ligase activity . E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates (PubMed:18591963, PubMed:19407830, PubMed:22410793). Can ubiquitinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation . Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations . Plays a role in the control of mitochondrial morphology by promoting mitochondrial fragmentation, and influences mitochondrial localization (PubMed:19407830, PubMed:18207745, PubMed:18213395). Likely to promote mitochondrial fission through negatively regulating the mitochondrial fusion proteins MFN1 and MFN2, acting in a pathway that is parallel to the PRKN/PINK1 regulatory pathway . May also be involved in the sumoylation of the membrane fission protein DNM1L . Inhibits cell growth . When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase- dependent apoptosis . Involved in the modulation of innate immune defense against viruses by inhibiting DDX58-dependent antiviral response . Can mediate DDX58 sumoylation and disrupt its polyubiquitination . ECO:0000269|PubMed:18591963, ECO:0000269|PubMed:19407830, ECO:0000269|PubMed:22410793, ECO:0000269|PubMed:23399697,

Synonyms:  MUL1,  MUL1p,  hMUL1,  A0A024RAA0,  C1orf166 ...

Linkouts:  STRING  Pharos  UniProt  OMIM