C9orf72 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006897Biological processendocytosis
GO_0110053Biological processregulation of actin filament organization
GO_0034063Biological processstress granule assembly
GO_0043547Biological processpositive regulation of GTPase activity
GO_1903432Biological processregulation of TORC1 signaling
GO_0032880Biological processregulation of protein localization
GO_0001933Biological processnegative regulation of protein phosphorylation
GO_0010506Biological processregulation of autophagy
GO_0016239Biological processpositive regulation of macroautophagy
GO_1902774Biological processlate endosome to lysosome transport
GO_2000785Biological processregulation of autophagosome assembly
GO_0048675Biological processaxon extension
GO_0006914Biological processautophagy
GO_0005615Cellular componentextracellular space
GO_0032045Cellular componentguanyl-nucleotide exchange factor complex
GO_0043204Cellular componentperikaryon
GO_0005764Cellular componentlysosome
GO_0098794Cellular componentpostsynapse
GO_0044304Cellular componentmain axon
GO_0030425Cellular componentdendrite
GO_0000932Cellular componentP-body
GO_0090543Cellular componentFlemming body
GO_0005829Cellular componentcytosol
GO_1990316Cellular componentAtg1/ULK1 kinase complex
GO_0044295Cellular componentaxonal growth cone
GO_0005737Cellular componentcytoplasm
GO_0005776Cellular componentautophagosome
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0099523Cellular componentpresynaptic cytosol
GO_0005768Cellular componentendosome
GO_0031965Cellular componentnuclear membrane
GO_0010494Cellular componentcytoplasmic stress granule
GO_0005634Cellular componentnucleus
GO_0005085Molecular functionguanyl-nucleotide exchange factor activity
GO_0031267Molecular functionsmall GTPase binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameC9orf72
Protein nameC9orf72-SMCR8 complex subunit
Guanine nucleotide exchange factor C9orf72
SynonymsDENNL72
DENND9
DescriptionFUNCTION: Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy . In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation . 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 . As part of the C9orf72-SMCR8 complex, stimulates RAB8A and RAB11A GTPase activity in vitro . Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ULK1/ATG1 kinase complex to the phagophore which leads to autophagosome formation . Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates . Plays a role in endosomal trafficking . 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 . This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to CFL1/cofilin activation . Positively regulates axon extension and axon growth cone size in spinal motor neurons . 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). .; FUNCTION: [Isoform 1]: Regulates stress granule assembly in response to cellular stress. .; FUNCTION: [Isoform 2]: Does not play a role in regulation of stress granule assembly in response to cellular stress. .

AccessionsENST00000379997.7 [Q96LT7-2]
ENST00000673600.1
ENST00000647196.1
A0A2R8Y5K2
Q96LT7
ENST00000379995.1 [Q96LT7-2]
ENST00000619707.5 [Q96LT7-1]
ENST00000644136.1
ENST00000380003.8 [Q96LT7-1]
A0A5F9ZHW7
A0A2R8Y5U5