Tbio SPG7 Paraplegin

Protein Summary

Description

ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735). This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

Uniprot Accession IDs

• Q9UQ90
• O75756
• Q2TB70
• Q58F00
• Q96IB0

Gene Name

• SPG7

Ensembl ID

• ENST00000341316
• ENSP00000341157
• ENSG00000197912
• ENST00000645818
• ENSP00000495795
• ENST00000646263
• ENSP00000494119

Symbol

• CAR
• CMAR
• PGN
• CAR
• PGN
• CMAR
• SPG5C

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	1
molecular function	0.96
transcription factor binding site profile	0.91
transcription factor perturbation	0.88
protein domain	0.85

Protein Classes

PANTHER Classes

Protein / ... / Metalloprotease / Paraplegin

DTO Classes

Protein / Enzyme / Protease / Metalloprotease / Paraplegin

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: 298.89   (req: < 5)

Gene RIFs: 28   (req: <= 3)

Antibodies: 330   (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: 298.89   (req: >= 5)

Gene RIFs: 28   (req: > 3)

Antibodies: 330   (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)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (217)

Explore Interacting Targets

1 – 10 of 217

• See Interactions on String-DB

MAS1

Tchem

Family:  GPCR

Novelty:  0.0089712

p_int:  0.99817486

p_ni:  0.00182514

Data Source:  BioPlex

NDUFB9

Tclin

Family:  Enzyme

Novelty:  0.00715628

p_int:  0.996819252

p_ni:  0.003175909

p_wrong:  0.000004839

Score:  0.241

Data Source:  BioPlex,STRINGDB

LPAR4

Tchem

Family:  GPCR

Novelty:  0.02200758

p_int:  0.992807012

p_ni:  0.007192987

Data Source:  BioPlex

LPCAT4

Tdark

Family:  Enzyme

Novelty:  0.246654

p_int:  0.991863423

p_ni:  0.008136577

Score:  0.212

Data Source:  BioPlex,STRINGDB

ISLR

Tbio

Novelty:  0.02936208

p_int:  0.954486633

p_ni:  0.045513367

Data Source:  BioPlex

PHETA1

Tbio

Novelty:  0.52415295

p_int:  0.947207147

p_ni:  0.052792853

p_wrong:  1e-9

Score:  0.189

Data Source:  BioPlex,STRINGDB

CPA5

Tbio

Family:  Enzyme

Novelty:  0.0516555

p_int:  0.878983469

p_ni:  0.121016512

p_wrong:  1.9e-8

Score:  0.215

Data Source:  BioPlex,STRINGDB

FAM174A

Tdark

Novelty:  0.30693139

p_int:  0.873509477

p_ni:  0.126490509

p_wrong:  1.3e-8

Data Source:  BioPlex

HDAC10

Tclin

Family:  Epigenetic

Novelty:  0.00976829

p_int:  0.864235519

p_ni:  0.135762501

p_wrong:  0.00000198

Score:  0.195

Data Source:  BioPlex,STRINGDB

CD79A

Tbio

Novelty:  0.00118942

p_int:  0.808052759

p_ni:  0.191947212

p_wrong:  2.8e-8

Data Source:  BioPlex

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (3)

Reactome (3)

Mitochondrial calcium ion transport (R-HSA-8949215)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Mitochondrial calcium ion transport	22 targets	R-HSA-8949215
Reactome	Processing of SMDT1	15 targets	R-HSA-8949664
Reactome	Transport of small molecules	725 targets	R-HSA-382551

Name	Explore in Pharos	Explore in Source
Mitochondrial calcium ion transport	22 targets	R-HSA-8949215
Processing of SMDT1	15 targets	R-HSA-8949664
Transport of small molecules	725 targets	R-HSA-382551

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (17)

Functions (5)

Components (5)

Processes (7)

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10

1 – 5 of 5

GO Term	Evidence	Assigned by
metalloendopeptidase activity	Inferred from Direct Assay (IDA)	MGI
peptidase activity	Traceable Author Statement (TAS)	ProtInc
unfolded protein binding	Traceable Author Statement (TAS)	ProtInc
ATP binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
zinc ion binding	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations (null)

No disease associations found

GWAS Traits (36)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 36

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
suntan	EFO_0004279	1	4	4		98.9
hair color	EFO_0003924	1	2	0	6.4	92.9
homocysteine measurement	EFO_0004578	2	2	2		92.3
glomerular filtration rate	EFO_0005208	5	4	5		92
basal cell carcinoma	EFO_0004193	1	1	1		86

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 36

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
suntan	EFO_0004279	4		98.9
hair color	EFO_0003924	0	6.4	92.9
homocysteine measurement	EFO_0004578	2		92.3
glomerular filtration rate	EFO_0005208	5		92
basal cell carcinoma	EFO_0004193	1		86

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
ATP-binding
Complete proteome
Disease mutation
Hereditary spastic paraplegia
Hydrolase
Membrane
Metal-binding
Metalloprotease

GWAS Trait Find Similar Targets

No Header	No Header
age at first sexual intercourse measurement
Agents acting on the renin-angiotensin system use measurement
alkaline phosphatase measurement
basal cell carcinoma
BMI-adjusted hip circumference
BMI-adjusted waist circumference
body height
body mass index
Calcium channel blocker use measurement
cancer

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
growth/size/body region phenotype
nervous system phenotype
skeleton phenotype

IDG Resources

No IDG generated resources found

Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	SPG7, paraplegin matrix AAA peptidase subunit	VGNC:14497	737127
Mouse	SPG7, paraplegin matrix AAA peptidase subunit	MGI:2385906	234847
Rat	SPG7, paraplegin matrix AAA peptidase subunit	RGD:727940	353231
Dog	SPG7, paraplegin matrix AAA peptidase subunit	VGNC:46736	489657
Horse	SPG7, paraplegin matrix AAA peptidase subunit	VGNC:51329	100051955

Species	Name	OMA	EggNOG	Inparanoid
Chimp	SPG7, paraplegin matrix AAA peptidase subunit
Mouse	SPG7, paraplegin matrix AAA peptidase subunit
Rat	SPG7, paraplegin matrix AAA peptidase subunit
Dog	SPG7, paraplegin matrix AAA peptidase subunit
Horse	SPG7, paraplegin matrix AAA peptidase subunit

Publication Statistics

PubMed Score 298.89

PubMed score by year

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PubTator Score 151.62

PubTator score by year

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Related Publications

Text Mined References (50)

GeneRif Annotations (28)

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PMID	Year	Title