Human Gene UBA1 (uc004dhj.4) Description and Page Index
Description: Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA. RefSeq Summary (NM_153280): 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. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chrX:47,050,199-47,074,527 Size: 24,329 Total Exon Count: 26 Strand: + Coding Region Position: hg19 chrX:47,058,202-47,074,328 Size: 16,127 Coding Exon Count: 25
ID:UBA1_HUMAN DESCRIPTION: RecName: Full=Ubiquitin-like modifier-activating enzyme 1; AltName: Full=Protein A1S9; AltName: Full=Ubiquitin-activating enzyme E1; FUNCTION: 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 an ubiquitin- E1 thioester and free AMP. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Monomer (By similarity). Interacts with GAN (via BTB domain). INTERACTION: Q76353:- (xeno); NbExp=2; IntAct=EBI-709688, EBI-6248077; Q9H2C0:GAN; NbExp=5; IntAct=EBI-709688, EBI-764342; P63279:UBE2I; NbExp=2; IntAct=EBI-709688, EBI-80168; PTM: ISGylated. DISEASE: Defects in UBA1 are the cause of spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]; also known as X-linked lethal infantile spinal muscular atrophy, distal X-linked arthrogryposis multiplex congenita or X-linked arthrogryposis type 1 (AMCX1). Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX2 is a lethal infantile form presenting with hypotonia, areflexia, and multiple congenital contractures. MISCELLANEOUS: There are two active sites within the E1 molecule, allowing it to accommodate two ubiquitin moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to the thiol site. SIMILARITY: Belongs to the ubiquitin-activating E1 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 69572 - Activating enzymes of the ubiquitin-like proteins 51735 - NAD(P)-binding Rossmann-fold domains
ModBase Predicted Comparative 3D Structure on P22314
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006464 cellular protein modification process GO:0006511 ubiquitin-dependent protein catabolic process GO:0006974 cellular response to DNA damage stimulus GO:0016567 protein ubiquitination