Version 5.4
Homo sapiens Gene: KIF1A
Summary
InnateDB Gene IDBG-84910.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIF1A
Gene Name kinesin family member 1A
Synonyms ATSV; C2orf20; HSN2C; MRD9; SPG30; UNC104
Species Homo sapiens
Ensembl Gene ENSG00000130294
Encoded Proteins
IDBP-84914
kinesin family member 1A
IDBP-294663
kinesin family member 1A
IDBP-389599
kinesin family member 1A
IDBP-389600
kinesin family member 1A
IDBP-389602
kinesin family member 1A
IDBP-389603
kinesin family member 1A
IDBP-603040
kinesin family member 1A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:240713764-240820308
Strand Reverse strand
Band q37.3
Transcripts
ENST00000320389 ENSP00000322791
ENST00000404283 ENSP00000384231
ENST00000431776 ENSP00000414613
ENST00000415042 ENSP00000415367
ENST00000428768 ENSP00000395443
ENST00000448728 ENSP00000398686
ENST00000460788
ENST00000492812
ENST00000488776
ENST00000465813
ENST00000494452
ENST00000498729 ENSP00000438388
ENST00000463388
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
GO:0043005 neuron projection
GO:0043025 neuronal cell body
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.516802 Hs.732510
RefSeq NM_001244008 NM_004321 XM_005247028
HUGO
OMIM
CCDS CCDS46561 CCDS58757
HPRD 03156
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca