KIF1A

Also known as ATSV, C2orf20, HSN2C, MRD9, SPG30, UNC104, kinesin family member 1A

Kinesin-like protein KIF1A, also known as axonal transporter of synaptic vesicles or microtubule-based motor KIF1A, is a protein that in humans is encoded by the KIF1A gene.

Gene data

KIF1A

Name: kinesin family member 1A
Type: protein-coding
Position: 240,713,761–240,824,320 (−)
Aliases: ATSV, C2orf20, HSN2C, MRD9, NESCAVS, SPG30, SPG30A, SPG30B, UNC104
Ensembl: ENSG00000130294
RefSeq RNA: NM_001244008.2, NM_001320705.2, NM_001330289.2, NM_001330290.2, NM_001379631.1
RefSeq protein: NP_001230937.1, NP_001307634.1, NP_001317218.1, NP_001317219.1, NP_001366560.1

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].

Pathways

Hemostasis Membrane Trafficking Vesicle-mediated transport COPI-dependent Golgi-to-ER retrograde traffic Intra-Golgi and retrograde Golgi-to-ER traffic Golgi-to-ER retrograde transport Kinesins Factors involved in megakaryocyte development and platelet production

via MyGene.info

Wikidata facts

Image: PDB 1i6i EBI.jpg

Show 5 more facts

HomoloGene ID: 99729
exact match: identifiers.org/ncbigene/547
genomic end: 240821036
genomic start: 240713761
cytogenetic location: 2q37.3

Sources (7)

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~23 min read

Article

20 sections

Contents

History
Function
Structure
Motor domain
Tail and neck domains
K-Loop
PH and FHA Domain
Regulation
Autoinhibition
Cargo binding
Rab GTPases
Other protein interactions
Tubulin post-translational modifications
Pathology
Clinical significance
KIF1A-associated neurological disorder
Society and culture
References
Further reading
External links

Kinesin-like protein KIF1A, also known as axonal transporter of synaptic vesicles or microtubule-based motor KIF1A, is a protein that in humans is encoded by the KIF1A gene.

KIF1A is a neuron-specific member of the kinesin-3 family and is a microtubule plus end-directed motor protein involved in the anterograde, long-distance transport of vesicles and organelles. Similar to other kinesin proteins, KIF1A harnesses the chemical energy released from Adenosine Triphosphate (ATP) hydrolysis to create mechanical force, allowing it to "walk" along microtubule filaments to transport cargo from the neuron cell body to its periphery. With an important role in the brain, KIF1A function is essential for physiological processes, such as neuronal survival and higher brain function.