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Tbio
C9orf72
Guanine nucleotide exchange C9orf72

Protein Summary
Description
Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). 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 (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity (PubMed:27617292). Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ATG1/ULK1 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 (Pub ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000379995
  • ENSP00000369331
  • ENSG00000147894
  • ENST00000379997
  • ENSP00000369333
  • ENST00000380003
  • ENSP00000369339
  • ENST00000619707
  • ENSP00000482753

Symbol
  • ALSFTD
  • FTDALS
  • DENNL72
  • FTDALS1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0
biological term
0
cell line
0
cell type or tissue
0
cellular component
0


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1170.7   (req: < 5)
Gene RIFs: 342   (req: <= 3)
Antibodies: 204   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1170.7   (req: >= 5)
Gene RIFs: 342   (req: > 3)
Antibodies: 204   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
5
3
0
1.2
99
sporadic amyotrophic lateral sclerosis
1
1
1
85.5
cathepsin L1 measurement
1
1
1
72.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.2
99
sporadic amyotrophic lateral sclerosis
1
85.5
cathepsin L1 measurement
1
72.9
Gene Ontology Terms (28)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (111)
1 – 10 of 111
SMCR8
Tbio
Novelty: 0.11500348
p_int: 0.99999999
p_ni: 1e-8
Score: 0.985
Data Source: BioPlex,STRINGDB
WDR41
Tbio
Novelty: 0.20400077
p_int: 0.999999788
p_ni: 2.12e-7
Score: 0.946
Data Source: BioPlex,STRINGDB
FUS
Tbio
Novelty: 0.00065625
Score: 0.929
Data Source: STRINGDB
TARDBP
Tbio
Novelty: 0.00165455
Score: 0.908
Data Source: STRINGDB
GRN
Tbio
Novelty: 0.00096395
Score: 0.871
Data Source: STRINGDB
SOD1
Tbio
Family: Enzyme
Novelty: 0.00039653
Score: 0.864
Data Source: STRINGDB
VCP
Tchem
Family: Enzyme
Novelty: 0.00103317
Score: 0.839
Data Source: STRINGDB
UBQLN2
Tbio
Novelty: 0.00776132
Score: 0.839
Data Source: STRINGDB
MAPT
Tchem
Novelty: 0.00013232
Score: 0.833
Data Source: STRINGDB
CHMP2B
Tbio
Novelty: 0.01116381
Score: 0.826
Data Source: STRINGDB
Publication Statistics
PubMed Score  1170.70

PubMed score by year
PubTator Score  690.33

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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