C9orf72
entrez
73205
canonical
uniprot
Q6DFW0
canonical
ensembl
ENSMUSG00000028300
resolver
ensp
ENSMUSP00000103761
resolver
ensp
ENSMUSP00000103762
resolver
ensp
ENSMUSP00000175139
resolver
genesymbol
C9orf72
resolver
genesymbol_syn
Dennd9
resolver
genesymbol_syn
Dennl72
resolver
uniprot
A6PWW3
resolver
uniprot
Q3TJP2
resolver
uniprot
Q3U3D8
resolver
uniprot_entry
CI072_MOUSE
resolver
uniprot_sec
A6PWW3
resolver
uniprot_sec
Q3TJP2
resolver
uniprot_sec
Q3U3D8
resolver
amino_acid_sequence
MSTICPPPSPAVAKTEIALSGESPLLAATFAYWDNILGPRVRHIWAPKTDQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIVLEGTERMEDQGQSIIPMLTGEVIPVMELLASMKSHSVPEDIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSSAEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDATGSFVLPFRQVMYAPYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESFTPDLNIFQDVLHRDTLVKAFLDQVFHLKPGLSLRSTFLAQFLLILHRKALTLIKYIEDDTQKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMTF
uniprot
proteins
function
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:27193190, PubMed:27617292). Acts as a GEF for RAB39A which enables HOPS-mediated autophagosome-lysosome membrane tethering and fusion in mammalian autophagy (By similarity). Component of the C9orf72-SMCR8 complex where both subunits display GEF activity and that regulates autophagy (PubMed:27193190, PubMed:27617292). As part of the C9orf72-SMCR8-WDR41 (CSW) complex, functions as GEF for RAB8A, and RAB39B, thereby promoting autophagosome maturation (By similarity). As part of the C9orf72-SMCR8 complex, also functions as GTPase activating protein (GAP) for RAB8A and RAB11A in vitro (By similarity). 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:27193190, 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 (By similarity). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27875531). Plays a role in endosomal trafficking (PubMed:26989253). May be involved in regulating the maturation of phagosomes to lysosomes (PubMed:26989253). Promotes the lysosomal localization and lysosome-mediated degradation of CARM1 which leads to inhibition of starvation-induced lipid metabolism (PubMed:30366907). 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 CFL1/cofilin, leading to 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 (PubMed:31651360). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (PubMed:27412785). {ECO:0000250|UniProtKB:Q96LT7, ECO:0000269|PubMed:26989253, ECO:0000269|PubMed:27193190, ECO:0000269|PubMed:27412785, ECO:0000269|PubMed:27617292, ECO:0000269|PubMed:27723745, ECO:0000269|PubMed:27875531, ECO:0000269|PubMed:30366907, ECO:0000269|PubMed:31651360}.
uniprot
proteins
mass_dalton
54278
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
24549040
uniprot
proteins
pubmed
26044557
uniprot
proteins
pubmed
26408000
uniprot
proteins
pubmed
26727886
uniprot
proteins
pubmed
26989253
uniprot
proteins
pubmed
27193190
uniprot
proteins
pubmed
27412785
uniprot
proteins
pubmed
27476503
uniprot
proteins
pubmed
27617292
uniprot
proteins
pubmed
27723745
uniprot
proteins
pubmed
27875531
uniprot
proteins
pubmed
30366907
uniprot
proteins
pubmed
31651360
uniprot
proteins
sequence_length
481
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24549040, ECO:0000269|PubMed:26408000, ECO:0000269|PubMed:27476503}. Cytoplasm {ECO:0000269|PubMed:24549040, ECO:0000269|PubMed:26408000, ECO:0000269|PubMed:27476503, ECO:0000269|PubMed:27617292}. Cytoplasm, P-body {ECO:0000250|UniProtKB:Q96LT7}. Cytoplasm, Stress granule {ECO:0000250|UniProtKB:Q96LT7}. Endosome {ECO:0000250|UniProtKB:Q96LT7}. Lysosome {ECO:0000250|UniProtKB:Q96LT7}. Cytoplasmic vesicle, autophagosome {ECO:0000250|UniProtKB:Q96LT7}. Autolysosome {ECO:0000250|UniProtKB:Q96LT7}. Secreted {ECO:0000269|PubMed:24549040}. Cell projection, axon {ECO:0000250|UniProtKB:Q96LT7}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q96LT7}. Perikaryon {ECO:0000269|PubMed:26408000}. Note=Detected in the cytoplasm of neurons from brain tissue (By similarity). Detected in the nucleus in fibroblasts (By similarity). Associates with cytoplasmic stress granules following cellular stress (By similarity). During corticogenesis, transitions from being predominantly cytoplasmic to a more even nucleocytoplasmic distribution (PubMed:27476503). Primarily localized in cytosol under basal conditions (By similarity). Primarily gathered on autolysosome structures under autophagy-induced conditions (By similarity). {ECO:0000250|UniProtKB:Q96LT7, ECO:0000269|PubMed:27476503}.; SUBCELLULAR LOCATION: [Isoform 1]: Perikaryon {ECO:0000250|UniProtKB:Q96LT7}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q96LT7}. Presynapse {ECO:0000269|PubMed:31651360}. Postsynapse {ECO:0000269|PubMed:31651360}. Note=Expressed diffusely throughout the cytoplasm and dendritic processes of cerebellar Purkinje cells. Also expressed diffusely throughout the cytoplasm of spinal motor neurons. {ECO:0000250|UniProtKB:Q96LT7}.
uniprot
proteins