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Mouse Anti-SETX Recombinant Antibody (CBXS-5080) (CBMAB-S0265-CQ)

This product is a mouse antibody that recognizes SETX. The antibody CBXS-5080 can be used for immunoassay techniques such as: FC, IHC, IHC-P, ICFC.
See all SETX antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXS-5080
Application
FC, IHC, IHC-P, ICFC

Basic Information

Immunogen
Partial recombinant human Senataxin protein (between amino acids 2300-2600) [UniProt Q7Z333]
Specificity
Human
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!]

Concentration
1 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
senataxin
Introduction
This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).
Entrez Gene ID
UniProt ID
Alternative Names
Senataxin; Amyotrophic Lateral Sclerosis 4 Protein; SEN1 Homolog; SCAR1; ALS4; Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1; Amyotrophic Lateral Sclerosis 4; Probable Helicase Senataxin;
Function
Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224).
Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850).
Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805).
Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity).
Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789).
In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744).
Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity).
May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256).
Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).
Biological Process
Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process cellular response to DNA damage stimulusManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular response to fibroblast growth factor stimulusManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular response to hydrogen peroxideManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular response to oxidative stressManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular response to retinoic acidManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process circadian rhythmIEA:Ensembl
Biological Process DNA recombinationIEA:UniProtKB-KW
Biological Process DNA-templated transcription terminationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process double-strand break repairManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process fibroblast growth factor receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process MAPK cascadeManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process mRNA splice site selectionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of apoptotic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process nervous system developmentIEA:UniProtKB-KW
Biological Process positive regulation of DNA-templated transcription initiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of neuron projection developmentManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of RNA splicingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of termination of DNA-templated transcriptionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of termination of RNA polymerase II transcription, poly(A)-coupledManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein kinase B signalingManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process RNA processingManual Assertion Based On ExperimentTAS:UniProtKB
Biological Process spermatogenesisIEA:UniProtKB-KW
Biological Process termination of RNA polymerase II transcriptionManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Nucleus, nucleoplasm
Nucleus, nucleolus
Cytoplasm
Chromosome
Chromosome, telomere
Cell projection, axon
Cell projection, growth cone
May be detected in the nucleolus only in cycling cells. At pachytene stage, colocalizes predominantly to the heterochromatic XY-body of sex chromosomes with DNA damage response proteins in a BRCA1-dependent manner (By similarity).
Localizes with telomeric DNA in a transcription-dependent manner (PubMed:21112256).
Under replication stress, colocalizes with a variety of DNA damage signaling and repair response proteins at distinct nuclear foci in mitotic S/G2- and G1-phase cells in a transcription- and RNA/DNA hybrid-dependent manner (PubMed:23149945).
Localizes at limited number of nuclear foci (PubMed:24105744).
Colocalizes with EXOSC9 in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744).
Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus
Involvement in disease
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN2 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAN2 patients manifest oculomotor apraxia.
Amyotrophic lateral sclerosis 4 (ALS4):
A form of amyotrophic lateral sclerosis with childhood- or adolescent-onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
PTM
Ubiquitinated.
Sumoylated preferentially with SUMO2 or SUMO3 (PubMed:24105744, PubMed:24244371).
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For research use only. Not intended for any clinical use.

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