16 relations: APPBP1, ATG7, Gigaxonin, Missense mutation, Proteasome, SAE1, SAE2, Spinal muscular atrophy, UBA1, UBE1C, UBE1DC1, UBE1L, UBE1L2, Ubiquitin, Ubiquitin ligase, Ubiquitin-conjugating enzyme.
NEDD8-activating enzyme E1 regulatory subunit is a protein that in humans is encoded by the NAE1 gene.
Autophagy-related protein 7 is a protein in humans encoded by ATG7 gene.
Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
Proteasomes are protein complexes which degrade unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds.
SUMO-activating enzyme subunit 1 is a protein that in humans is encoded by the SAE1 gene.
SAE2 is a gene of the yeast Saccharomyces cerevisiae, encoding for the a protein involved in the repair of DNA double strand breaks.
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death.
Ubiquitin-like modifier activating enzyme 1 (UBA1) is an enzyme which in humans is encoded by the UBA1 gene.
NEDD8-activating enzyme E1 catalytic subunit is a protein that in humans is encoded by the UBA3 gene.
Ubiquitin-like modifier-activating enzyme 5 is a protein that in humans is encoded by the UBA5 gene.
Ubiquitin-like modifier-activating enzyme 7 is a protein that in humans is encoded by the UBA7 gene.
Ubiquitin-like modifier-activating enzyme 6 is a protein that in humans is encoded by the UBA6 gene.
Ubiquitin is a small (8.5 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e. it occurs ''ubiquitously''.
A ubiquitin ligase (also called an E3 ubiquitin ligase) is a protein that recruits an E2 ubiquitin-conjugating enzyme that has been loaded with ubiquitin, recognizes a protein substrate, and assists or directly catalyzes the transfer of ubiquitin from the E2 to the protein substrate.
Ubiquitin-conjugating enzymes, also known as E2 enzymes and more rarely as ubiquitin-carrier enzymes, perform the second step in the ubiquitination reaction that targets a protein for degradation via the proteasome.