KIF21A

Kinesin-like protein KIF21A is a protein that in humans is encoded by the KIF21A gene.[5][6]

KIF21A
Identifiers
Aliases	KIF21A, CFEOM1, FEOM1, FEOM3A, kinesin family member 21A
External IDs	OMIM: 608283 MGI: 109188 HomoloGene: 56761 GeneCards: KIF21A
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q12 Start 39,293,228 bp[1] End 39,443,390 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 E3|15 45.86 cM Start 90,933,276 bp[2] End 91,049,948 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • microtubule binding • microtubule motor activity • nucleotide binding • ATPase activity • GO:0001948 protein binding • ATP binding Cellular component • cytoplasm • microtubule • cytoskeleton • kinesin complex • cytosol • cell membrane Biological process • microtubule-based movement Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55605	16564
Ensembl	ENSG00000139116	ENSMUSG00000022629
UniProt	Q7Z4S6	Q9QXL2
RefSeq (mRNA)	NM_001173463 NM_001173464 NM_001173465 NM_017641 NM_001378439 NM_001378440 NM_001378441	NM_001109040 NM_001109041 NM_001109042 NM_016705 NM_001358050
RefSeq (protein)	NP_001166934 NP_001166935 NP_001166936 NP_060111 NP_001365368 NP_001365369 NP_001365370	NP_001102510 NP_001102511 NP_001102512 NP_057914 NP_001344979
Location (UCSC)	Chr 12: 39.29 – 39.44 Mb	Chr 15: 90.93 – 91.05 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

KIF21A belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.[supplied by OMIM][6]

References

1. GRCh38: Ensembl release 89: ENSG00000139116 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022629 - 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.
5. Marszalek JR, Weiner JA, Farlow SJ, Chun J, Goldstein LS (Jun 1999). "Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B". J Cell Biol. 145 (3): 469–479. doi:10.1083/jcb.145.3.469. PMC 2185086. PMID 10225949.
6. "Entrez Gene: KIF21A kinesin family member 21A".

Further reading

• Yamada K, Hunter DG, Andrews C, Engle EC (2005). "A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon". Arch. Ophthalmol. 123 (9): 1254–1259. doi:10.1001/archopht.123.9.1254. PMID 16157808.
• Engle EC, Kunkel LM, Specht LA, Beggs AH (1994). "Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12". Nat. Genet. 7 (1): 69–73. doi:10.1038/ng0594-69. PMID 8075644.
• Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–176. doi:10.1093/dnares/5.3.169. PMID 9734811.
• Scanlan MJ, Gordan JD, Williamson B, et al. (1999). "Antigens recognized by autologous antibody in patients with renal-cell carcinoma". Int. J. Cancer. 83 (4): 456–464. doi:10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5. PMID 10508479.
• Nagase T, Kikuno R, Hattori A, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (6): 347–355. doi:10.1093/dnares/7.6.347. PMID 11214970.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Magli A, de Berardinis T, D'Esposito F, Gagliardi V (2004). "Clinical and surgical data of affected members of a classic CFEOM I family". BMC Ophthalmology. 3: 6. doi:10.1186/1471-2415-3-6. PMC 155649. PMID 12702216.
• Yamada K, Andrews C, Chan WM, et al. (2004). "Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)". Nat. Genet. 35 (4): 318–321. doi:10.1038/ng1261. PMID 14595441.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
• Yamada K, Chan WM, Andrews C, et al. (2004). "Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)". Invest. Ophthalmol. Vis. Sci. 45 (7): 2218–2223. doi:10.1167/iovs.03-1413. PMID 15223798.
• 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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Tiab L, d'Allèves Manzi V, Borruat FX, et al. (2005). "Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients". Ophthalmic Genet. 25 (4): 241–246. doi:10.1080/13816810490902828. PMID 15621876.
• Ali M, Venkatesh C, Ragunath A, Kumar A (2005). "Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations". Ophthalmic Genet. 25 (4): 247–255. doi:10.1080/13816810490498198. PMID 15621877.
• Demer JL, Clark RA, Engle EC (2005). "Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A". Invest. Ophthalmol. Vis. Sci. 46 (2): 530–539. doi:10.1167/iovs.04-1125. PMID 15671279.
• Lin LK, Chien YH, Wu JY, et al. (2006). "KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3". Mol. Vis. 11: 245–8. PMID 15827546.
• Shimizu S, Okinaga A, Maruo T (2006). "Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles". Jpn. J. Ophthalmol. 49 (6): 443–447. doi:10.1007/s10384-005-0243-7. PMID 16365788.
• Chan WM, Andrews C, Dragan L, et al. (2007). "Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1". BMC Genet. 8: 26. doi:10.1186/1471-2156-8-26. PMC 1888713. PMID 17511870.

External links

• Engle Laboratory CFEOM page
• GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles
• OMIM entries on Congenital Fibrosis of the Extraocular Muscles