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Tbio
SPG11
Spatacsin

Protein Summary
Description
May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport. The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000261866
  • ENSP00000261866
  • ENSG00000104133
  • ENST00000535302
  • ENSP00000445278
  • ENST00000558319
  • ENSP00000453599

Symbol
  • KIAA1840
  • ALS5
  • CMT2X
  • KIAA1840
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
0.84
cellular component
0.83
transcription factor perturbation
0.8
histone modification site profile
0.78
transcription factor binding site profile
0.69


Related Tools
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
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 163.19   (req: < 5)
Gene RIFs: 54   (req: <= 3)
Antibodies: 82   (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: 163.19   (req: >= 5)
Gene RIFs: 54   (req: > 3)
Antibodies: 82   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
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
C-reactive protein measurement
1
1
1
94.1
high density lipoprotein cholesterol measurement
1
1
1
57.3
apolipoprotein A 1 measurement
1
1
1
52.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
C-reactive protein measurement
1
94.1
high density lipoprotein cholesterol measurement
1
57.3
apolipoprotein A 1 measurement
1
52.8
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
SPG11, spatacsin vesicle trafficking associated
VGNC:14813
453391
Macaque
SPG11, spatacsin vesicle trafficking associated
712221
Mouse
MGI:2444989
214585
Rat
RGD:1562529
311372
Dog
SPG11, spatacsin vesicle trafficking associated
VGNC:46734
100856719
Species
Name
OMA
EggNOG
Inparanoid
Chimp
SPG11, spatacsin vesicle trafficking associated
Macaque
SPG11, spatacsin vesicle trafficking associated
Mouse
Rat
Dog
SPG11, spatacsin vesicle trafficking associated
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q96JI7-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (15)
Items per page:
10
1 – 9 of 9
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
MGI
Inferred from Direct Assay (IDA)
MGI
Inferred from Direct Assay (IDA)
HPA
Inferred from Direct Assay (IDA)
HPA
Inferred from Direct Assay (IDA)
HPA
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from High Throughput Direct Assay (HDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Protein-Protein Interactions (99)
1 – 10 of 99
AP5S1
Tdark
Novelty: 1.92515745
p_int: 0.999999916
p_ni: 1.9e-8
p_wrong: 6.5e-8
Score: 0.903
Data Source: BioPlex,STRINGDB
AP5Z1
Tbio
Family: TF
Novelty: 0.14368974
p_int: 0.999999915
p_ni: 8.4e-8
p_wrong: 1e-9
Score: 0.946
Data Source: BioPlex,STRINGDB
PCYT1A
Tbio
Family: Enzyme
Novelty: 0.00621528
p_int: 0.999997703
p_ni: 0.000002297
Data Source: BioPlex
AP5B1
Tdark
Novelty: 0.06116142
p_int: 0.9999957
p_ni: 0.0000043
Score: 0.921
Data Source: BioPlex,STRINGDB
LINC01587
Tdark
Novelty: 0.48128342
p_int: 0.999723923
p_ni: 0.000276077
Score: 0.188
Data Source: BioPlex,STRINGDB
AP5M1
Tbio
Novelty: 0.00684623
p_int: 0.998664462
p_ni: 0.001335346
p_wrong: 1.92e-7
Score: 0.842
Data Source: BioPlex,STRINGDB
CRYL1
Tbio
Family: Enzyme
Novelty: 0.04513297
p_int: 0.995257475
p_ni: 0.004742241
p_wrong: 2.84e-7
Score: 0.169
Data Source: BioPlex,STRINGDB
VIPR2
Tchem
Family: GPCR
Novelty: 0.00463802
p_int: 0.994985325
p_ni: 0.004104333
p_wrong: 0.000910342
Data Source: BioPlex
FIS1
Tbio
Novelty: 0.0033607
p_int: 0.98082889
p_ni: 0.008449148
p_wrong: 0.010721963
Data Source: BioPlex
DCAF10
Tdark
Novelty: 2.6713128
p_int: 0.966862948
p_ni: 0.033137052
Data Source: BioPlex
Publication Statistics
PubMed Score  163.19

PubMed score by year
PubTator Score  98.1

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