InnateDB Protein
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IDBP-601511.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SPG11
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Protein Name
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spastic paraplegia 11 (autosomal recessive)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000453599
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InnateDB Gene
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IDBG-9834 (SPG11)
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Protein Structure
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Function |
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm, cytosol {ECO:0000269PubMed:17322883}. Nucleus {ECO:0000269PubMed:17322883}. Note=Mainly cytoplasmic.
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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.
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Tissue Specificity |
Expressed in all structures of brain, with a high expression in cerebellum. {ECO:0000269PubMed:17322883}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96JI7
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PhosphoSite |
PhosphoSite-Q96JI7
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TrEMBL |
H0YN96
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UniProt Splice Variant |
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Entrez Gene |
80208
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UniGene |
Hs.667399
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RefSeq |
XP_006720762
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HUGO |
HGNC:11226
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OMIM |
610844
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CCDS |
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HPRD |
07963
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IMGT |
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EMBL |
AB058743
AB470309
AC009996
AK025092
AK091176
AL834168
AY954502
BC024161
BC067798
BC094704
BC150640
BC153879
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GenPept |
AAH24161
AAH67798
AAH94704
AAI50641
AAI53880
AAX54692
BAB15065
BAB47469
BAC03600
BAH58759
CAH10686
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