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Mouse Anti-OPHN1 (AA 641-734) Recombinant Antibody (CBXO-0054) (CBMAB-O0400-CQ)

This product is a mouse antibody that recognizes OPHN1 (AA 641-734). The antibody CBXO-0054 can be used for immunoassay techniques such as: S-ELISA, ELISA, WB.
See all OPHN1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXO-0054
Antibody Isotype
IgG2a, Κ
Application
S-ELISA, ELISA, WB

Basic Information

Immunogen
OPHN1 (NP_002538, 641 a.a.-734 a.a) partial 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
Liquid
Buffer
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.
Epitope
AA 641-734

Target

Full Name
oligophrenin 1
Introduction
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism.
Entrez Gene ID
4983
UniProt ID
O60890
Alternative Names
Oligophrenin 1; Mental Retardation, X-Linked 60; Oligophrenin-1, Rho-GTPase Activating Protein; Oligophrenin-1; ARHGAP41; MRX60; OPN1
Function
Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).
Biological Process
Actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Axon guidanceManual Assertion Based On ExperimentTAS:ProtInc
Cell junction assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Cell morphogenesis involved in neuron differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Cerebellar granule cell differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Cerebral cortex neuron differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Establishment of epithelial cell apical/basal polarityManual Assertion Based On ExperimentIMP:UniProtKB
Maintenance of postsynaptic specialization structureIEA:Ensembl
Negative regulation of proteasomal protein catabolic processManual Assertion Based On ExperimentIBA:GO_Central
Nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Neuron differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Neuron projection developmentManual Assertion Based On ExperimentIMP:ARUK-UCL
Regulation of endocytosisManual Assertion Based On ExperimentIBA:GO_Central
Regulation of postsynaptic neurotransmitter receptor internalizationManual Assertion Based On ExperimentIDA:SynGO
Regulation of Rho protein signal transductionManual Assertion Based On ExperimentIMP:ARUK-UCL
Regulation of synaptic transmission, glutamatergicManual Assertion Based On ExperimentIBA:GO_Central
Signal transductionManual Assertion Based On ExperimentTAS:ProtInc
Substrate-dependent cell migration, cell extensionManual Assertion Based On ExperimentTAS:ProtInc
Synaptic vesicle endocytosisManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cell junction, synapse, postsynapse
Cell junction, synapse, presynapse
Cell projection, axon
Cell projection, dendritic spine
Cell projection, dendrite
Cytoplasm
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Billuart type (MRXSBL):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBL patients manifest mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.

Kirola, L., Norris, J., Holloway, L., Brandt, T., Kaercher, K., Ziats, C. A., ... & Schwartz, C. (2022). A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay. Gene Reports, 27, 101590.

Li, Y., Chen, J., & Song, S. (2022). Circ‐OPHN1 suppresses the proliferation, migration, and invasion of trophoblast cells through mediating miR‐558/THBS2 axis. Drug Development Research, 83(4), 1034-1046.

Liu, J., Zhang, Y., Li, S., Sun, F., Wang, G., Wei, D., ... & Gu, S. (2022). Androgen deprivation‑induced OPHN1 amplification promotes castration‑resistant prostate cancer. Oncology Reports, 47(1), 1-10.

Zhang, M., Sun, Y., Huang, C. P., Luo, J., Zhang, L., Meng, J., ... & Chang, C. (2021). Targeting the Lnc-OPHN1-5/androgen receptor/hnRNPA1 complex increases Enzalutamide sensitivity to better suppress prostate cancer progression. Cell Death & Disease, 12(10), 855.

Nuovo, S., Brankovic, V., Caputi, C., Casella, A., Nigro, V., Leuzzi, V., & Valente, E. M. (2021). Novel unconventional variants expand the allelic spectrum of OPHN1 gene. American Journal of Medical Genetics Part A, 185(5), 1575-1581.

Cvetkovska, V., & Bagot, R. C. (2021). Ophn1 regulation of prefrontal inhibition: A mechanism for stress susceptibility in intellectual disability. Neuron, 109(10), 1583-1584.

Boglis, A., Cosma, A. S., Tripon, F., & Bãnescu, C. (2020). Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report. Medicine, 99(33), e21632.

Schwartz, T. S., Wojcik, M. H., Pelletier, R. C., Edward, H. L., Picker, J. D., Holm, I. A., ... & Agrawal, P. B. (2019). Expanding the phenotypic spectrum associated with OPHN1 variants. European journal of medical genetics, 62(2), 137-143.

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For research use only. Not intended for any clinical use.

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