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.

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Vinony's link graph records 275 inbound references to KIF1A, and connects out to hair keratin, PubMed and Ensembl genome database project.

It sits within the topics Genes on human chromosome 2, Human proteins and Motor proteins.

Vinony links it to 6 Wikipedia language editions.

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

Gene · Ensembl

kinesin family member 1A

Symbol: KIF1A
Biotype: Protein coding
Organism: Homo sapiens
Location: 2:240,713,761-240,824,320
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: PDB 1i6i EBI.jpg

Show 8 more facts

HomoloGene ID: 99729
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/547
genomic end: 240821036
genomic start: 240713761
chromosome: human chromosome 2
cytogenetic location: 2q37.3
expressed in: dorsolateral prefrontal cortex

Sources (7)

via Wikidata · CC0

~23 min read

Encyclopedic overview

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.

Excerpted from Wikipedia’s “KIF1A” article, available under the CC BY-SA 4.0 licence.