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C9orf72
The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Langerhans cells)
Immune cell specificity
Group enriched (intermediate monocyte, non-classical monocyte, neutrophil, classical monocyte, myeloid DC, basophil)
Cell line specificity
Low cell line specificity
Interaction
Component of the C9orf72-SMCR8 complex, at least composed of C9orf72, SMCR8 and WDR41 (PubMed:27193190, 27103069, 27559131, 27617292, 28195531, 32303654). The complex is formed of two protomers, each individually consisting of one molecule each of C9orf72, SMCR8 and WDR41 (PubMed:32303654). The protomers homodimerize via an interaction between C9orf72 (via C-terminus) and SMCR8 (via N-terminus) (PubMed:32303654). Within each protomer SMCR8 (via DENN domain) acts as a bridging protein between WDR41 (via C-terminus and N-terminus) and C9orf72 (via C-terminus) (PubMed:32303654). The C9orf72-SMCR8 complex associates with the ULK1/ATG1 kinase complex (PubMed:27617292, 28195531). Interacts with ULK1/ATG1 kinase complex members ULK1, ATG13 and RB1CC1 (PubMed:27334615). Interacts with SMCR8; the interaction is direct (PubMed:27559131, 27617292, 32303654). Interacts with HNRNPA1, HNRNPA2B1 and UBQLN2 (PubMed:24549040). Interacts with small Rab GTPase RAB1A; the interaction mediates recruitment of RAB1A to the ULK1/ATG1 kinase complex (PubMed:27334615). Also interacts with small Rab GTPase RAB7A (By similarity). Interacts with cofilin (PubMed:27723745). Interacts with GTP-binding proteins ARF1 and ARF6 (By similarity). Interacts with the DLG4/PSD-95 (By similarity). Interacts with CARM1 (via PH domain-like fold) (By similarity).
Molecular function
Guanine-nucleotide releasing factor
More Types Infomation
- Rat Anti-C9orf72 Recombinant Antibody (VS-0224-FY23) (VS-0224-FY23)
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- Species Reactivity: Human, Mouse
- Type: Rat IgG1, κ
- Application: WB, IHC, ELISA, IF, ICC
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- Type: Mouse IgG2b
- Application: ELISA, WB, IHC, ICC, FC
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- Type: Mouse IgG1
- Application: ELISA, IHC, FC
- Human Anti-C9orf72 Recombinant Antibody (HPAB-0360-FY) (HPAB-0360-FY)
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- Species Reactivity: Human
- Type: Human IgG
- Application: Neut, FC, Block, FuncS, WB
- Human Anti-C9orf72 Recombinant Antibody (HPAB-0359-FY) (HPAB-0359-FY)
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- Species Reactivity: Human
- Type: Human IgG
- Application: Neut, FC, Block, FuncS, WB
- Human Anti-C9orf72 Recombinant Antibody; scFv Fragment (HPAB-0360-FY-S(P)) (HPAB-0360-FY-S(P))
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- Species Reactivity: Human
- Type: Human scFv
- Application: WB, IP, ELISA
- Human Anti-C9orf72 Recombinant Antibody; scFv Fragment (HPAB-0359-FY-S(P)) (HPAB-0359-FY-S(P))
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- Species Reactivity: Human
- Type: Human scFv
- Application: WB, IP, ELISA
- Human Anti-C9orf72 Recombinant Antibody; Fab Fragment (HPAB-0360-FY-F(E)) (HPAB-0360-FY-F(E))
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- Species Reactivity: Human
- Type: Human Fab
- Application: WB, IP, ELISA
- Human Anti-C9orf72 Recombinant Antibody; Fab Fragment (HPAB-0359-FY-F(E)) (HPAB-0359-FY-F(E))
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- Species Reactivity: Human
- Type: Human Fab
- Application: WB, IP, ELISA
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For Research Use Only. Not For Clinical Use.