Mouse Anti-PUS1 Recombinant Antibody (CBYC-P802) (CBMAB-P3531-YC)

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Basic Information

Host Animal
Mouse
Clone
CBYC-P802
Application
IF, IP, WB, ELISA
Immunogen
PUS1 (AAH02901, 1-399 aa) full length recombinant protein with GST tag.
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
PBS, pH 7.2
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.
More Infomation

Target

Full Name
pseudouridylate synthase 1
Introduction
PUS1 is a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia.
Entrez Gene ID
UniProt ID
Alternative Names
MLASA1
Function
Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs (PubMed:15772074, PubMed:24722331).
Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:24722331).
Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:31477916, PubMed:35051350).
Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350).
Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350).
Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:24722331).
Biological Process
Mitochondrial tRNA pseudouridine synthesisTAS:Reactome
mRNA processingIEA:UniProtKB-KW
mRNA pseudouridine synthesisManual Assertion Based On ExperimentIDA:UniProtKB
RNA splicingIEA:UniProtKB-KW
tRNA pseudouridine synthesisManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Isoform 1
Mitochondrion
Isoform 2
Nucleus
Cytoplasm
Involvement in disease
Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1):
A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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