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UBA1

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]
Full Name
UBA1
Function
Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181, PubMed:33108101).
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 a ubiquitin-E1 thioester and free AMP (PubMed:1447181).
Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334).
Biological Process
Biological Process cellular response to DNA damage stimulus Source:UniProtKB1 Publication
Biological Process protein modification by small protein conjugation Source:GO_Central1 Publication
Biological Process protein ubiquitination Source:GO_Central1 Publication
Biological Process ubiquitin-dependent protein catabolic process Source:GO_Central1 Publication
Cellular Location
Cytoplasm
Mitochondrion
Nucleus
Isoform 1
Nucleus
Isoform 2
Cytoplasm
Involvement in disease
Spinal muscular atrophy X-linked 2 (SMAX2):
A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures.
VEXAS syndrome (VEXAS):
A sporadic, often fatal, treatment-refractory inflammatory syndrome that develops in late adulthood. Clinical features include fevers, cytopenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis. The disease affects only males and is associated with de novo somatic mutations.
PTM
ISGylated.

Anti-UBA1 antibodies

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Target: UBA1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 2B6
Application*: WB, E
Target: UBA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: CBFYU-021
Application*: IH, IP, WB
Target: UBA1
Host: Mouse
Specificity: Human
Clone: CBFYU-020
Application*: WB, IP, IF, E
Target: UBA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYU-019
Application*: IH, IP, WB
Target: UBA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: CBFYU-018
Application*: WB, IH, IP
Target: UBA1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYU-017
Application*: E, WB
Target: UBA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 12BA10
Application*: E, WB
Target: UBA1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 12BA9
Application*: E, WB
Target: UBA1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 12BA8
Application*: E, WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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