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UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1\; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M\; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008].. Additionally we are shipping UFM1 Antibodies (8) and many more products for this protein.
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This study, focused on identifying the mutated gene in patients with hypomyelination with atrophy of the basal ganglia and cerebellum without TUBB4A (show TUBB5 Proteins) mutations, revealed a homozygous 3-bp deletion in the UFM1 promoter area, which perfectly segregates with the disease.
Meta analysis identified a new gene, UFM1, that is associated with low von Willebrand factor (show VWF Proteins) levels.
in the absence of UFSP2 (show C4orf20 Proteins), a deconjugating enzyme for UFM1, ectopic expression of both UFL1 (show UFL1 Proteins) and UFBP1, which serve as the E3-ligase complex for the UFM1-system, dramatically increases UFM1-conjugate formation at the endoplasmic reticulum.
data imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-function allele in UBA5 underlies a severe infantile-onset encephalopathy
Biallelic Variants in UBA5 (show UBA5 Proteins) Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
results of an in vitro truncation assay suggest that Uba5 (show UBA5 Proteins) residues 57-363 comprise the minimal fragment required for the high-efficiency activation of Ufm1
ASC1 (show RPL3 Proteins) is a target for ufmylation and that UFBP1 is an essential component for ASC1 (show RPL3 Proteins) ufmylation.
binding of ATP to Uba5 (show UBA5 Proteins) approximately Ufm1 thioester was required for efficient transfer of Ufm1 from Uba5 (show UBA5 Proteins) to Ufc1 (show UFC1 Proteins) via transthiolation.
Thus, UfSP2 proteins have protease- and Ufm1-independent functions in GPCR biogenesis.
transcription downregulation of the Ufm1 and FAT10 (show UBD Proteins) conjugation system in liver Mallory-Denk bodies formation
CNS-specific knockout of Ufm1 in mice causes neonatal death accompanied by microcephaly and apoptosis in specific neurons, further suggesting that the UFM1 system is essential for CNS development and function
High UFM1 expression is associated with Atherosclerosis.
These data suggest that UFM1-UFBP1 participate in preventing ER stress-induced apoptosis in protein secretory cells.
A novel type of E3 ligase for the Ufm1 conjugation system.
A novel ubiquitin fold modifier (Ufm1) not been previously associated with ER stress and not found to be induced under any condition was found to be upregulated in the hearts of MCP (show CR1L Proteins) mice (transgenic mice that express MCP-1 (show CPT1B Proteins) specifically in the heart).
loop between beta3 and alpha2 in addition to the C-terminal region of Ufm1 plays a role in binding to UfSP1
UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1\; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M\; MIM 603173) (Komatsu et al., 2004
ubiquitin-fold modifier 1