InnateDB Protein
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IDBP-378864.4
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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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KIF5A
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Protein Name
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kinesin family member 5A
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Synonyms
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D12S1889; MY050; NKHC; SPG10;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000408979
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InnateDB Gene
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IDBG-42948 (KIF5A)
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Protein Structure
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Function |
Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, perinuclear region {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Concentrated in the cell body of the neurons, particularly in the perinuclear region. {ECO:0000250}.
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Disease Associations |
Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]: 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:12355402, ECO:0000269PubMed:15452312, ECO:0000269PubMed:16476820, ECO:0000269PubMed:16489470, ECO:0000269PubMed:18245137, ECO:0000269PubMed:18853458, ECO:0000269PubMed:21107874}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Distributed throughout the CNS but is highly enriched in subsets of neurons.
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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 28 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated |
Total |
28
[view]
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Protein-Protein |
28
[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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Predicted by orthology |
Total |
11 [view]
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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 |
IPR001752
Kinesin, motor domain
IPR009053
Prefoldin
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF00225
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PRINTS |
PR00380
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PIRSF |
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SMART |
SM00129
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TIGRFAMs |
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Modification |
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SwissProt |
Q12840
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PhosphoSite |
PhosphoSite-Q12840
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
3798
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UniGene |
Hs.713130
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RefSeq |
NP_004975
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HUGO |
HGNC:6323
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OMIM |
602821
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CCDS |
CCDS8945
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HPRD |
09108
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IMGT |
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EMBL |
AB210045
BC146670
BC150208
CH471054
U06698
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GenPept |
AAA20231
AAI46671
AAI50209
BAE06127
EAW97030
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