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FLASH GENE

Symbol

KIF5A

contributors: mct/shn - updated : 30-08-2023

HGNC name	kinesin family member 5A
HGNC id	6323

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALS25 amyotrophic lateral sclerosis 25 NEIMY myoclonus, intractable, neonatal SPG10 spastic paraplegia 10
Location	12q13.3      Physical location : 57.943.846 - 57.978.554
Synonym name	kinesin heavy chain neuron- specific 1
	kinesin, heavy chain, neuron-specific
	KIF5A variant protein
	neuronal kinesin heavy chain
	kinesin heavy chain isoform 5A
	spastic paraplegia 10 (autosomal dominant)
Synonym symbol(s)	D12S889, NKHC, KINN, MY050, SPG10, KIF5

DNA

TYPE	functioning gene
STRUCTURE	34.71 kb     29 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D12S1644 - D12S1691 - KIF5A - D12S90 - D12S305 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004984 29 - 3897 NP_004975 - 1032 - 2008 18203753

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain diencephalon amygdala   highly   nerve       highly Homo sapiens Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Homo sapiens Nervous peripherous       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eye, retina ,lens, anterior segment, choroid, RPE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal globular domain
	the motor domain with an ATP and the microtubule binding sites
	a long alpa-helical coiled-coil region (stalk region), involved in dimerization
	a small C terminal domain, potentially involved in interaction with other proteins, vesicles or organelles

mono polymer

oligo

HOMOLOGY

interspecies	homolog to Drosophila costal 2
	ortholog to Kif5a, Mus musculus
	ortholog to Kif5a, Rattus norvegicus
	ortholog to KIF5A, Pan troglodytes

Homologene

FAMILY

Kinesin superfamily proteins

CATEGORY

motor/contractile , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
text	perinuclear region of neuron, organelles membres

basic FUNCTION	involved in dendritic transport of RNA
	mitotic microtubule-associated motor protein, modulates neuronal migration
	a role in process outgrowth and axonal transport of mitochondria
	is a key isoform of kinesin-1, which is a key molecular machinery in facilitating anterograde axonal mitochondrial transport
	KIF5A directly regulates mitochondrial axonal transport in developing retinal ganglion cells (RGCs)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , cellular trafficking transport

text	axoplasmic flow : intracellular movement from neural cell body to the lip of axon

PATHWAY

metabolism

signaling

neurotransmission

synaptic transmission

a component

component of a complex with two kinesins, heavy chain and two light chains (KIF5A, KIF5B, KLC2, KLC1) (Morton 2010)

INTERACTION

DNA

RNA

small molecule

protein	Beta-dystrobrevin, DTNB
	Pur alpha-containing granules
	SNPH mediates the activity-dependent immobilization of axonal mitochondria through binding to KIF5A
	ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (PLP1), atlastin-1 (ATL1), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C
	GSK3B regulates the sorting of GPHN and NLGN2 complexes in a KIF5A-dependent manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG10 , NEIMY , ALS25

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     amplified in certain tumors constitutional       loss of function mimics APP-induced axonal mitochondrial transport deficits, indicating a potential role of KIF5A deficiency in Alzheimer Disease-relevant axonal mitochondrial traffic abnormalities

Susceptibility

to multiple sclerosis

Variant & Polymorphism SNP	rs1678542 in KIF5A confer susceptibility for multiple sclerosis (Pubmed 20508602)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer potential therapeutic avenue by protecting KIF5A function for the treatment of AD

ANIMAL & CELL MODELS

	KIF5A knockout (KIF5A( -/- )) mice die early after birth whose lungs are unexpanded, and cell bodies of lower motor neurons in the spinal cord swollen
	Outgrowth of axons and dendrites is remarkably diminished in mouse KIF5A( -/- ) motor neurons and the number of axonal branches is reduced and sensory neurons, neurite outgrowth as well
	Ectopic expression of Drosophila Khc carrying a human KIF5A-associated mutation (N256S) is sufficient to disturb axonal transport and to induce motoneuron disease in Drosophila