Version 5.4
Homo sapiens Protein: SPG11
Summary
InnateDB Protein IDBP-9836.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPG11
Protein Name spastic paraplegia 11 (autosomal recessive)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000261866
InnateDB Gene IDBG-9834 (SPG11)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm, cytosol {ECO:0000269PubMed:17322883}. Nucleus {ECO:0000269PubMed:17322883}. Note=Mainly cytoplasmic.
Disease Associations Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]: 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. {ECO:0000269PubMed:17322883, ECO:0000269PubMed:19105190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in all structures of brain, with a high expression in cerebellum. {ECO:0000269PubMed:17322883}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0008219 cell death
Cellular Component
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0031410 cytoplasmic vesicle
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96JI7
PhosphoSite PhosphoSite-Q96JI7
TrEMBL H0YN96
UniProt Splice Variant
Entrez Gene 80208
UniGene Hs.667399
RefSeq NP_079413
HUGO HGNC:11226
OMIM 610844
CCDS CCDS10112
HPRD 07963
IMGT
EMBL AB058743 AB470309 AC009996 AK025092 AK091176 AL834168 AY954502 BC024161 BC067798 BC094704 BC150640 BC153879
GenPept AAH24161 AAH67798 AAH94704 AAI50641 AAI53880 AAX54692 BAB15065 BAB47469 BAC03600 BAH58759 CAH10686

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca