KIF1A

KIF1A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4EGX, 4EJQ, 4UXO, 4UXP, 4UXR, 4UXS
Identifiers
Aliases	KIF1A, ATSV, C2orf20, HSN2C, MRD9, SPG30, UNC104, kinesin family member 1A
External IDs	OMIM: 601255 MGI: 108391 HomoloGene: 99729 GeneCards: KIF1A
Gene location (Human)
Chr.	Chromosome 2 (human)[1]
End	240,821,036 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	93,101,951 bp[2]
Gene ontology
Molecular function	• microtubule binding; • microtubule motor activity; • nucleotide binding; • ATPase activity; • cellular motor activity; • ATP binding; • identical protein binding; • protein homodimerization activity; • ATP-dependent microtubule motor activity, plus-end-directed;
Cellular component	• cytoplasm; • microtubule; • cytoskeleton; • kinesin complex; • axon cytoplasm; • axon; • cytosol; • synaptic vesicle; • dendrite; • neuronal cell body; • presynapse; • postsynapse; • macromolecular complex; • neuron projection;
Biological process	• microtubule-based movement; • anterograde axonal transport; • interkinetic nuclear migration; • protein transport along microtubule; • vesicle-mediated transport; • cytoskeleton-dependent intracellular transport; • anterograde neuronal dense core vesicle transport; • retrograde neuronal dense core vesicle transport;
	Sources:Amigo / QuickGO
Orthologs
	547
	16560
	ENSG00000130294
	ENSMUSG00000014602
	Q12756
	P33173
	NM_001244008; NM_004321; NM_001320705; NM_001330289; NM_001330290
	NM_001110315; NM_001294149; NM_001294150; NM_008440; NM_001368847
	NP_001230937; NP_001307634; NP_001317218; NP_001317219; NP_004312
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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.[5][6][7]

Function

KIF1A is a member of the kinesin family. This protein is highly similar to mouse heavy-chain kinesin member 1A protein, which is an anterograde motor protein that transports membranous organelles along axonal microtubules. It is thought that this protein may play a critical role in the development of axonal transport neuropathies resulting from impaired axonal transport. There are multiple polyadenylation sites found in this gene.[5] Sexual orientation has been linked to the regulatory domain of the gene.[8]

Clinical significance

KIF1A is associated with hereditary spastic paraparesis.[9]

The website KIF1A.org serves as a resource for patients and care-givers, and provides links to research efforts.

References

GRCh38: Ensembl release 89: ENSG00000130294 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000014602 - 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.
"Entrez Gene: kinesin family member 1A".
Okada Y, Yamazaki H, Sekine-Aizawa Y, Hirokawa N (June 1995). "The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors". Cell. 81 (5): 769–80. doi:10.1016/0092-8674(95)90538-3. PMID 7539720.
Keller MP, Seifried BA, Rabin BA, Chance PF (March 1999). "Mapping of the kinesin-related gene ATSV to chromosome 2q37". Hum. Genet. 104 (3): 254–6. doi:10.1007/s004390050944. PMID 10323250.
Ngun, Tuck (October 8, 2015). "PgmNr 95: A novel predictive model of sexual orientation using epigenetic markers". American Society of Human Genetics.
Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O (April 2011). "Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis". Genome Res. 21 (5): 658–64. doi:10.1101/gr.117143.110. PMC 3083082. PMID 21487076.

External links

Overview of all the structural information available in the PDB for UniProt: Q12756 (Kinesin-like protein KIF1A) at the PDBe-KB.

Demokan S, Chang X, Chuang A, et al. (2010). "KIF1A and EDNRB are differentially methylated in primary HNSCC and salivary rinses". Int. J. Cancer. 127 (10): 2351–9. doi:10.1002/ijc.25248. PMC 2946472. PMID 20162572.
Smith M, Escamilla JR, Filipek P, et al. (2001). "Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR" (PDF). Cytogenet. Cell Genet. 94 (1–2): 15–22. doi:10.1159/000048775. PMID 11701947.
Kikkawa M, Hirokawa N (2006). "High-resolution cryo-EM maps show the nucleotide binding pocket of KIF1A in open and closed conformations". EMBO J. 25 (18): 4187–94. doi:10.1038/sj.emboj.7601299. PMC 1570440. PMID 16946706.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Albers M, Kranz H, Kober I, et al. (2005). "Automated yeast two-hybrid screening for nuclear receptor-interacting proteins". Mol. Cell. Proteomics. 4 (2): 205–13. doi:10.1074/mcp.M400169-MCP200. PMID 15604093.
Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics. 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
Furlong RA, Zhou CY, Ferguson-Smith MA, Affara NA (1996). "Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34". Genomics. 33 (3): 421–9. doi:10.1006/geno.1996.0217. PMID 8661001.
Koshizuka T, Kawaguchi Y, Nishiyama Y (2005). "Herpes simplex virus type 2 membrane protein UL56 associates with the kinesin motor protein KIF1A". J. Gen. Virol. 86 (Pt 3): 527–33. doi:10.1099/vir.0.80633-0. PMID 15722511.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Shin H, Wyszynski M, Huh KH, et al. (2003). "Association of the kinesin motor KIF1A with the multimodular protein liprin-alpha". J. Biol. Chem. 278 (13): 11393–401. doi:10.1074/jbc.M211874200. PMID 12522103.
Lee JR, Shin H, Choi J, et al. (2004). "An intramolecular interaction between the FHA domain and a coiled coil negatively regulates the kinesin motor KIF1A". EMBO J. 23 (7): 1506–15. doi:10.1038/sj.emboj.7600164. PMC 391070. PMID 15014437.
Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
Lee JR, Shin H, Ko J, et al. (2003). "Characterization of the movement of the kinesin motor KIF1A in living cultured neurons". J. Biol. Chem. 278 (4): 2624–9. doi:10.1074/jbc.M211152200. PMID 12435738.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130294 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000014602 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: kinesin family member 1A".

[pmid7539720-6] Okada Y, Yamazaki H, Sekine-Aizawa Y, Hirokawa N (June 1995). "The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors". Cell. 81 (5): 769–80. doi:10.1016/0092-8674(95)90538-3. PMID 7539720.

[pmid10323250-7] Keller MP, Seifried BA, Rabin BA, Chance PF (March 1999). "Mapping of the kinesin-related gene ATSV to chromosome 2q37". Hum. Genet. 104 (3): 254–6. doi:10.1007/s004390050944. PMID 10323250.

[8] Ngun, Tuck (October 8, 2015). "PgmNr 95: A novel predictive model of sexual orientation using epigenetic markers". American Society of Human Genetics.

[pmid21487076-9] Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O (April 2011). "Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis". Genome Res. 21 (5): 658–64. doi:10.1101/gr.117143.110. PMC 3083082. PMID 21487076.

KIF1A

Function

Clinical significance

References

External links

Further reading