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Tbio
SMCR8
Guanine nucleotide exchange protein SMCR8

Protein Summary
Description
Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27193190, PubMed:27103069, PubMed:27559131, 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:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27617292, PubMed:28195531). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131, PubMed:28195531). In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleu ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000406438
  • ENSP00000385025
  • ENSG00000176994
  • ENST00000639332
  • ENSP00000492062
  • ENSG00000283741
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor binding site profile
0.89
histone modification site profile
0.72
cell line
0.65
microRNA
0.61
PubMedID
0.54


Protein Classes
No PANTHER Classes or DTO Classes found
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: 11.92   (req: < 5)
Gene RIFs: 2   (req: <= 3)
Antibodies: 30   (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: 11.92   (req: >= 5)
Gene RIFs: 2   (req: > 3)
Antibodies: 30   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (47)
C9orf72
Tbio
Novelty:  0.00096553
p_int:  0.99999999
p_ni:  1e-8
Score:  0.985
Data Source:  BioPlex,STRINGDB
IMPDH1
Tclin
Family:  Enzyme
Novelty:  0.00758575
p_int:  0.999998675
p_ni:  0.000001325
Score:  0.483
Data Source:  BioPlex,STRINGDB
IMPDH2
Tclin
Family:  Enzyme
Novelty:  0.00815361
p_int:  0.998218405
p_ni:  0.001525461
p_wrong:  0.000256134
Score:  0.869
Data Source:  BioPlex,STRINGDB
SSSCA1
Tdark
Novelty:  0.53523038
p_int:  0.996800945
p_ni:  0.002927982
p_wrong:  0.000271073
Data Source:  BioPlex
CRYAB
Tchem
Novelty:  0.00464213
p_int:  0.98450504
p_ni:  0.015449533
p_wrong:  0.000045427
Score:  0.205
Data Source:  BioPlex,STRINGDB
WDR41
Tbio
Novelty:  0.20400077
Score:  0.981
Data Source:  STRINGDB
ATG13
Tbio
Novelty:  0.00951471
Score:  0.884
Data Source:  STRINGDB
RB1CC1
Tbio
Novelty:  0.00744817
Score:  0.842
Data Source:  STRINGDB
RAB39B
Tbio
Family:  Enzyme
Novelty:  0.02362498
Score:  0.803
Data Source:  STRINGDB
FLCN
Tbio
Novelty:  0.0022007
Score:  0.801
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (18)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
blood protein measurement
1
2
2
85.2
mitochondrial DNA measurement
2
2
2
84.7
systolic blood pressure
1
1
1
76.1
multiple sclerosis
1
1
0
1.2
70
BMI-adjusted waist-hip ratio
2
3
4
60.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
blood protein measurement
2
85.2
mitochondrial DNA measurement
2
84.7
systolic blood pressure
1
76.1
multiple sclerosis
0
1.2
70
BMI-adjusted waist-hip ratio
4
60.6
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
Smith-Magenis syndrome chromosome region, candidate 8
743260
Mouse
MGI:2444720
237782
Rat
RGD:1564621
497918
Dog
Smith-Magenis syndrome chromosome region, candidate 8 [Source:HGNC Symbol;Acc:HGNC:17921]
Horse
Smith-Magenis syndrome chromosome region, candidate 8
100050558
Species
Name
OMA
EggNOG
Inparanoid
Chimp
Smith-Magenis syndrome chromosome region, candidate 8
Mouse
Rat
Dog
Smith-Magenis syndrome chromosome region, candidate 8 [Source:HGNC Symbol;Acc:HGNC:17921]
Horse
Smith-Magenis syndrome chromosome region, candidate 8
Publication Statistics
PubMed Score 11.92
PubMed score by year
PubTator Score 3.71
PubTator score by year
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Related Publications
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PMID
Year
Title