InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPG7

Summary

InnateDB Protein

IDBP-47469.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPG7

Protein Name

spastic paraplegia 7 (pure and complicated autosomal recessive)

Synonyms

CAR; CMAR; PGN; SPG5C;

Species

Homo sapiens

Ensembl Protein

ENSP00000341157

InnateDB Gene

IDBG-47463 (SPG7)

Protein Structure

UniProt Annotation

Function

Putative ATP-dependent zinc metalloprotease.

Subcellular Localization

Mitochondrion membrane {ECO:0000269PubMed:9635427}; Multi-pass membrane protein {ECO:0000269PubMed:9635427}.

Disease Associations

Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions. {ECO:0000269PubMed:16534102, ECO:0000269PubMed:17646629, ECO:0000269PubMed:20186691, ECO:0000269PubMed:9635427}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004222	metalloendopeptidase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008233	peptidase activity
GO:0008270	zinc ion binding
GO:0016887	ATPase activity
GO:0017111	nucleoside-triphosphatase activity
GO:0051082	unfolded protein binding

Biological Process

GO:0006508	proteolysis
GO:0007399	nervous system development
GO:0008219	cell death

Cellular Component

GO:0005739	mitochondrion
GO:0016021	integral component of membrane
GO:0031966	mitochondrial membrane

Protein Structure and Domains

PDB ID

InterPro

IPR003593 AAA+ ATPase domain
IPR003959 ATPase, AAA-type, core
IPR011546 Peptidase M41, FtsH extracellular
IPR011704 ATPase, dynein-related, AAA domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00004
PF07724
PF13304
PF06480
PF07728

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UQ90