InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIF5A

Summary

InnateDB Protein

IDBP-378864.4

Last Modified

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

Gene Symbol

KIF5A

Protein Name

kinesin family member 5A

Synonyms

D12S1889; MY050; NKHC; SPG10;

Species

Homo sapiens

Ensembl Protein

ENSP00000408979

InnateDB Gene

IDBG-42948 (KIF5A)

Protein Structure

UniProt Annotation

Function

Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). {ECO:0000250}.

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}.

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.

Tissue Specificity

Distributed throughout the CNS but is highly enriched in subsets of neurons.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003774	motor activity
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008017	microtubule binding

Biological Process

GO:0007018	microtubule-based movement
GO:0007268	synaptic transmission
GO:0007596	blood coagulation
GO:0008152	metabolic process
GO:0008219	cell death
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II