C9orf72 Antibody (C-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- 产品详情
- 文献引用 : 4
- 实验流程
Application ![]()
| WB, E |
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Primary Accession | Q96LT7 |
Other Accession | Q66HC3, NP_060795.1, NP_659442.2 |
Reactivity | Human, Rat, Mouse |
Predicted | Rat |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | Rabbit IgG |
Calculated MW | 54328 Da |
Antigen Region | 396-424 aa |
Gene ID | 203228 |
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Other Names | Protein C9orf72, C9orf72 |
Target/Specificity | This C9orf72 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 396-424 amino acids from the C-terminal region of human C9orf72. |
Dilution | WB~~1:1000 E~~Use at an assay dependent concentration. |
Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | C9orf72 Antibody (C-term) is for research use only and not for use in diagnostic or therapeutic procedures. |
Name | C9orf72 (HGNC:28337) |
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Function | Acts as a guanine-nucleotide releasing factor (GEF) for Rab GTPases by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531, PubMed:37821429). Acts as a GEF for RAB39A which enables HOPS-mediated autophagosome-lysosome membrane tethering and fusion in mammalian autophagy (PubMed:37821429). Component of the C9orf72-SMCR8 complex where both subunits display GEF activity and that regulates autophagy (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531). As part of the C9orf72-SMCR8-WDR41 (CSW) complex, functions as GEF for RAB8A and RAB39B, thereby promoting autophagosome maturation (PubMed:27103069). As part of the C9orf72-SMCR8 complex, also functions as GTPase activating protein (GAP) for RAB8A and RAB11A in vitro (PubMed:32303654). The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and modulating its protein kinase activity (PubMed:27617292). Promotes initiation of autophagy by regulating the RAB1A-dependent trafficking of the ULK1/ATG1 kinase complex to the phagophore which leads to autophagosome formation (PubMed:27334615). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131). Plays a role in endosomal trafficking (PubMed:24549040). May be involved in regulating the maturation of phagosomes to lysosomes (By similarity). Promotes the lysosomal localization and lysosome-mediated degradation of CARM1 which leads to inhibition of starvation-induced lipid metabolism (By similarity). Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation (PubMed:27723745). This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to CFL1/cofilin activation (PubMed:27723745). Positively regulates axon extension and axon growth cone size in spinal motor neurons (PubMed:27723745). Required for SMCR8 protein expression and localization at pre- and post-synaptic compartments in the forebrain, also regulates protein abundance of RAB3A and GRIA1/GLUR1 in post-synaptic compartments in the forebrain and hippocampus (By similarity). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity). |
Cellular Location | Cytoplasm. Nucleus. Cytoplasm, P-body. Cytoplasm, Stress granule. Endosome Lysosome Cytoplasmic vesicle, autophagosome Autolysosome. Secreted. Cell projection, axon. Cell projection, growth cone. Perikaryon {ECO:0000250|UniProtKB:Q6DFW0}. Note=Detected in the cytoplasm of neurons from brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). During corticogenesis, transitions from being predominantly cytoplasmic to a more even nucleocytoplasmic distribution (By similarity). Majorly localized in cytosol under basal conditions (PubMed:37821429). Majorly gathered on autolysosomes structures under autophagy-induced conditions (PubMed:37821429) {ECO:0000250|UniProtKB:Q6DFW0, ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:21944779, ECO:0000269|PubMed:27037575, ECO:0000269|PubMed:37821429} [Isoform 2]: Nucleus membrane; Peripheral membrane protein. Nucleus. Note=Detected at the nuclear membrane of cerebellar Purkinje cells and spinal motor neurons. Also shows diffuse nuclear expression in spinal motor neurons |
Tissue Location | Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level). |
Research Areas
For Research Use Only. Not For Use In Diagnostic Procedures.

Application Protocols
Provided below are standard protocols that you may find useful for product applications.
REFERENCES
Suarez-Gestal, M., et al. Arthritis Res. Ther. 12 (2), R72 (2010) : van Es, M.A., et al. Nat. Genet. 41(10):1083-1087(2009) Humphray, S.J., et al. Nature 429(6990):369-374(2004)

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