KIF5A

KIF5A

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
4UXT, 4UXY, 4UY0

Identifiers

KIF5A, D12S1889, MY050, NKHC, SPG10, kinesin family member 5A, NEIMY, ALS25

External IDs

OMIM: 602821; MGI: 109564; HomoloGene: 55861; GeneCards: KIF5A; OMA:KIF5A - orthologs

Gene location (Human)

Chr.	Chromosome 12 (human)^[1]

Band	12q13.3	Start	57,546,026 bp^[1]
Band	12q13.3	End	57,586,633 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 10 (mouse)^[2]

Band	10 D3\|10 74.5 cM	Start	127,061,565 bp^[2]
Band	10 D3\|10 74.5 cM	End	127,099,217 bp^[2]

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

right frontal lobe

right hemisphere of cerebellum

Brodmann area 9

cingulate gyrus

anterior cingulate cortex

prefrontal cortex

ganglionic eminence

C1 segment

amygdala

nucleus accumbens

Top expressed in

globus pallidus

lateral geniculate nucleus

superior frontal gyrus

subiculum

lateral hypothalamus

pontine nuclei

anterior amygdaloid area

ventral tegmental area

medial geniculate nucleus

nucleus accumbens

More reference expression data


More reference expression data

Gene ontology
Molecular function	nucleotide binding microtubule motor activity microtubule binding protein binding cytoskeletal motor activity plus-end-directed microtubule motor activity ATP binding kinesin binding ATPase activity
Cellular component	cytoplasm cytosol membrane kinesin complex soma ciliary rootlet perinuclear region of cytoplasm neuron projection microtubule cytoskeleton dendrite cytoplasm synapse axon cytoplasm
Biological process	protein localization cytoskeleton-dependent intracellular transport antigen processing and presentation of exogenous peptide antigen via MHC class II axon guidance chemical synaptic transmission retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum vesicle-mediated transport microtubule-based movement anterograde dendritic transport of neurotransmitter receptor complex synaptic vesicle transport anterograde axonal protein transport retrograde neuronal dense core vesicle transport
Sources:Amigo / QuickGO

Species

Human

Mouse


3798


16572


ENSG00000155980


ENSMUSG00000074657


Q12840


P33175

RefSeq (mRNA)


NM_004984 NM_001354705 NM_032624


NM_001039000 NM_008447

RefSeq (protein)


NP_004975 NP_001341634


NP_001034089 NP_032473

Location (UCSC)

Chr 12: 57.55 – 57.59 Mb

Chr 10: 127.06 – 127.1 Mb

PubMed search

^[3]

^[4]

View/Edit Human

View/Edit Mouse

Kinesin family member 5A is a protein that in humans is encoded by the KIF5A gene. It is part of the kinesin family of motor proteins.^[5]^[6]^[7]

This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multi-subunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10.^[7]

Interactions

KIF5A has been shown to interact with KLC1.^[8]^[9]

Clinical significance

Mutations in KIF5A have been reported to cause hereditary spastic paraplegia type 10 (SPG1).^[10]

Mutations in KIF5A have also been found to cause amyotrophic lateral sclerosis.^[11]

KIF5A has been shown to play a role in Alzheimer's disease by modulating the toxic effect of beta-amyloid on axonal transport of mitochondria.^[12]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000155980 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000074657 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hamlin PJ, Jones PF, Leek JP, Bransfield K, Lench NJ, Aldersley MA, et al. (February 1999). "Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. [email protected]". Cytogenetics and Cell Genetics. 82 (3–4): 267–8. doi:10.1159/000015115. PMID 9858832. S2CID 84466204.
^ Reid E, Dearlove AM, Rhodes M, Rubinsztein DC (September 1999). "A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity". American Journal of Human Genetics. 65 (3): 757–63. doi:10.1086/302555. PMC 1377983. PMID 10441583.
^ ^a ^b "Entrez Gene: KIF5A kinesin family member 5A".
^ Rahman A, Friedman DS, Goldstein LS (June 1998). "Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins". The Journal of Biological Chemistry. 273 (25): 15395–403. doi:10.1074/jbc.273.25.15395. PMID 9624122.
^ Rahman A, Kamal A, Roberts EA, Goldstein LS (September 1999). "Defective kinesin heavy chain behavior in mouse kinesin light chain mutants". The Journal of Cell Biology. 146 (6): 1277–88. doi:10.1083/jcb.146.6.1277. PMC 2156125. PMID 10491391.
^ Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, et al. (November 2002). "A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)". American Journal of Human Genetics. 71 (5): 1189–94. doi:10.1086/344210. PMC 385095. PMID 12355402.
^ Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, et al. (March 2018). "Genome-wide Analyses Identify KIF5A as a Novel ALS Gene". Neuron. 97 (6): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027. PMC 5867896. PMID 29566793.
^ Wang Q, Tian J, Chen H, Du H, Guo L (July 2019). "Amyloid beta-mediated KIF5A deficiency disrupts anterograde axonal mitochondrial movement". Neurobiology of Disease. 127: 410–418. doi:10.1016/j.nbd.2019.03.021. PMID 30923004. S2CID 85496004.

Further reading

Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, et al. (September 2004). "Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia". Neurology. 63 (6): 1108–10. doi:10.1212/01.wnl.0000138731.60693.d2. PMID 15452312. S2CID 10854107.
Niclas J, Navone F, Hom-Booher N, Vale RD (May 1994). "Cloning and localization of a conventional kinesin motor expressed exclusively in neurons". Neuron. 12 (5): 1059–72. doi:10.1016/0896-6273(94)90314-X. PMID 7514426. S2CID 32927183.
Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Rahman A, Friedman DS, Goldstein LS (June 1998). "Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins". The Journal of Biological Chemistry. 273 (25): 15395–403. doi:10.1074/jbc.273.25.15395. PMID 9624122.
Rahman A, Kamal A, Roberts EA, Goldstein LS (September 1999). "Defective kinesin heavy chain behavior in mouse kinesin light chain mutants". The Journal of Cell Biology. 146 (6): 1277–88. doi:10.1083/jcb.146.6.1277. PMC 2156125. PMID 10491391.
Kanai Y, Okada Y, Tanaka Y, Harada A, Terada S, Hirokawa N (September 2000). "KIF5C, a novel neuronal kinesin enriched in motor neurons". The Journal of Neuroscience. 20 (17): 6374–84. doi:10.1523/JNEUROSCI.20-17-06374.2000. PMC 6772948. PMID 10964943.
Setou M, Seog DH, Tanaka Y, Kanai Y, Takei Y, Kawagishi M, Hirokawa N (May 2002). "Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites". Nature. 417 (6884): 83–7. Bibcode:2002Natur.417...83S. doi:10.1038/nature743. PMID 11986669. S2CID 4400494.
Macioce P, Gambara G, Bernassola M, Gaddini L, Torreri P, Macchia G, et al. (December 2003). "Beta-dystrobrevin interacts directly with kinesin heavy chain in brain". Journal of Cell Science. 116 (Pt 23): 4847–56. doi:10.1242/jcs.00805. PMID 14600269. S2CID 27097248.
Amit I, Yakir L, Katz M, Zwang Y, Marmor MD, Citri A, et al. (July 2004). "Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding". Genes & Development. 18 (14): 1737–52. doi:10.1101/gad.294904. PMC 478194. PMID 15256501.
Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, et al. (September 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
Blair MA, Ma S, Hedera P (March 2006). "Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia". Neurogenetics. 7 (1): 47–50. doi:10.1007/s10048-005-0027-8. PMID 16489470. S2CID 24405076.

External links

Overview of all the structural information available in the PDB for UniProt: Q12840 (Kinesin heavy chain isoform 5A) at the PDBe-KB.

v t e PDB gallery
2kin: KINESIN (MONOMERIC) FROM RATTUS NORVEGICUS 3kin: KINESIN (DIMERIC) FROM RATTUS NORVEGICUS

Proteins of the cytoskeleton

Human

Microfilaments
and ABPs

Actins	A1 A2 B C1 G1 G2
Myosins	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Other	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomyosin 1 2 3 4 Actinin 1 2 3 4 Arp2/3 complex actin depolymerizing factors Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Other

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 none 21 type II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
and MAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB2C TUBB3 TUBB4 TUBB4Q TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 TUBD1 TUBE1
MAPs	EB1 EB2 EB3 MAP1A MAP1B MAP2 MAP4
Kinesins	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dyneins	axonemal: DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 cytoplasmic: DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Microtubule organising proteins	CAMSAP1 CAMSAP2 CAMSAP3 Centrin 1 Centrin 2 Centrin 3 PCM1
Microtubule severing proteins	Katanin Spastin
Other	Tau protein Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3

Dystrophin
- Dystroglycan
Utrophin
Ankyrin
- ANK1
- ANK2
- ANK3
Spectrin
- SPTA1
- SPTAN1
- SPTB
- SPTBN1
- SPTBN2
- SPTBN4
- SPTBN5

Other

Plakins
- Corneodesmosin
- Desmoplakin
- Dystonin
- Envoplakin
- MACF1
- Periplakin
- Plectin
Talin
- TLN1
Vinculin
Plakophilin
- PKP1
- PKP2
ACF7
PLEKHA7

Nonhuman

See also: cytoskeletal defects

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

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