InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIF1A

Summary

InnateDB Protein

IDBP-84914.6

Last Modified

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

Gene Symbol

KIF1A

Protein Name

kinesin family member 1A

Synonyms

ATSV; C2orf20; HSN2C; MRD9; SPG30; UNC104;

Species

Homo sapiens

Ensembl Protein

ENSP00000322791

InnateDB Gene

IDBG-84910 (KIF1A)

Protein Structure

UniProt Annotation

Function

Motor for anterograde axonal transport of synaptic vesicle precursors. {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:21376300}. Note=Expressed in distal regions of neurites.

Disease Associations

Spastic paraplegia 30, autosomal recessive (SPG30) [MIM:610357]: 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. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. {ECO:0000269PubMed:21487076}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuropathy, hereditary sensory, 2C (HSN2C) [MIM:614213]: A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. {ECO:0000269PubMed:21820098}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in neurons. {ECO:0000269PubMed:21376300}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.

Experimentally validated
Total	30 [view]
Protein-Protein	30 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

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:0008089	anterograde axon cargo transport
GO:0008152	metabolic process
GO:0008219	cell death

Cellular Component

GO:0005737	cytoplasm
GO:0005871	kinesin complex
GO:0005874	microtubule

Protein Structure and Domains

PDB ID

InterPro

IPR000008 C2 domain
IPR000253 Forkhead-associated (FHA) domain
IPR001752 Kinesin, motor domain
IPR001849 Pleckstrin homology domain
IPR008984 SMAD/FHA domain
IPR022140 Kinesin protein 1B
IPR022164 Kinesin-like
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00168
PF00498
PF00225
PF00169
PF12423
PF12473

PRINTS

PR00360
PR00380

PIRSF

SMART

SM00239
SM00240
SM00129
SM00233

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt