ENCODES a protein that exhibits ubiquitin activating enzyme activity (ortholog); INVOLVED IN DNA damage response (ortholog); PARTICIPATES IN Parkinson's disease pathway; ubiquitin/proteasome degradation pathway; ASSOCIATED WITH genetic disease (ortholog); squamous cell carcinoma (ortholog); VEXAS sy
ndrome (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); desmosome (ortholog); INTERACTS WITH 1,3-dinitrobenzene; 2,5-hexanedione; 4,4'-sulfonyldiphenol
This gene encodes a member of the ubiquitin-activating E1 family. The encoded protein initiates the ubiquitin activation and transfer cascade, catalyzing the first step in ubiquitin conjugation to mark cellular proteins for proteasome degradation. Ubiquitin activating enzymes use ATP to form a thioe
ster between a conserved catalytic cysteine of the enzyme and the C-terminal carboxylate of ubiquitin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23
ENCODES a protein that exhibits ubiquitin activating enzyme activity (ortholog); INVOLVED IN DNA damage response (ortholog); ASSOCIATED WITH genetic disease (ortholog); squamous cell carcinoma (ortholog); VEXAS syndrome (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); desmosome (orthol
ENCODES a protein that exhibits ATP binding (inferred); ligase activity (inferred); nucleotide binding (inferred); INVOLVED IN DNA damage response (inferred); protein modification by small protein conjugation (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog);
ENCODES a protein that exhibits ATP binding (inferred); ligase activity (inferred); nucleotide binding (inferred); INVOLVED IN DNA damage response (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog); squamous cell carcinoma (ortholog); VEXAS syndrome (ortholog);
ENCODES a protein that exhibits ATP binding (inferred); ligase activity (inferred); nucleotide binding (inferred); INVOLVED IN DNA damage response (inferred); protein modification by small protein conjugation (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog);
ENCODES a protein that exhibits ATP binding (inferred); ligase activity (inferred); nucleotide binding (inferred); INVOLVED IN DNA damage response (inferred); protein modification by small protein conjugation (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog);
ENCODES a protein that exhibits ATP binding (inferred); ligase activity (inferred); nucleotide binding (inferred); INVOLVED IN DNA damage response (inferred); protein modification by small protein conjugation (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog);
ENCODES a protein that exhibits ATP binding (inferred); ligase activity (inferred); nucleotide binding (inferred); INVOLVED IN DNA damage response (inferred); protein modification by small protein conjugation (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog);
ENCODES a protein that exhibits ubiquitin activating enzyme activity (ortholog); INVOLVED IN DNA damage response (ortholog); ASSOCIATED WITH genetic disease (ortholog); squamous cell carcinoma (ortholog); VEXAS syndrome (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); desmosome (orthol
Enables SUMO activating enzyme activity. Predicted to be involved in positive regulation of protein sumoylation and protein sumoylation. Part of SUMO activating enzyme complex. Is expressed in several structures, including branchial arch; lens; limb; and neural fold. Orthologous to human UBA2 (ubiqu
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein
ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]
ENCODES a protein that exhibits ubiquitin activating enzyme activity (ortholog); INVOLVED IN spermatogenesis; PARTICIPATES IN altered ubiquitin/proteasome degradation pathway; Alzheimer's disease pathway; ubiquitin/proteasome degradation pathway; INTERACTS WITH 3,7-dihydropurine-6-thione; 6-propyl-2
Enables ubiquitin activating enzyme activity. Predicted to be involved in DNA damage response; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Predicted to be active in cytoplasm and nucleus. Is expressed in adrenal gland; brain; gonad; and liver. [provided by Alliance of
ENCODES a protein that exhibits ATP binding (inferred); ligase activity (inferred); nucleotide binding (inferred); INVOLVED IN protein ubiquitination (inferred)
The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding d
omain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
