Homo sapiens Gene: SPG11
Summary
InnateDB Gene IDBG-9834.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPG11
Gene Name spastic paraplegia 11 (autosomal recessive)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000104133
Encoded Proteins
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
spastic paraplegia 11 (autosomal recessive)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:44562696-44663678
Strand Reverse strand
Band q21.1
Transcripts
ENST00000261866 ENSP00000261866
ENST00000427534 ENSP00000396110
ENST00000559511 ENSP00000453246
ENST00000535302 ENSP00000445278
ENST00000560299
ENST00000558138 ENSP00000453314
ENST00000559347
ENST00000561268
ENST00000559933
ENST00000558319 ENSP00000453599
ENST00000558080
ENST00000559822 ENSP00000452744
ENST00000558790
ENST00000558253
ENST00000560858 ENSP00000452991
ENST00000558155 ENSP00000453238
ENST00000561391
ENST00000558561
ENST00000558093
ENST00000558988 ENSP00000453921
ENST00000559754 ENSP00000453490
ENST00000560435 ENSP00000452629
ENST00000558989
ENST00000559193 ENSP00000453848
ENST00000557866 ENSP00000453227
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.656271 Hs.667399
RefSeq NM_001160227 NM_025137 XM_005254695 XM_006720699 XM_006720701
HUGO
OMIM
CCDS CCDS10112 CCDS53939
HPRD 07963
IMGT
EMBL
GenPept
RNA Seq Atlas