KIF21A

From Wikipedia, the free encyclopedia

Kinesin family member 21A

Identifiers

KIF21A; CFEOM; CFEOM1; DKFZp779C159; FEOM; FEOM1; FLJ20052; KIAA1708

External IDs

OMIM: 608283 MGI: 109188 HomoloGene: 56761

Gene ontology
Molecular Function:	• nucleotide binding • microtubule motor activity • ATP binding
Cellular Component:	• microtubule • microtubule associated complex
Biological Process:	• microtubule-based movement

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_017641 (mRNA)
NP_060111 (protein)

NM_016705 (mRNA)
NP_057914 (protein)

Location

Chr 12: 37.97 - 38.12 Mb

Chr 15: 90.76 - 90.83 Mb

Pubmed search

[1]

[2]

Kinesin family member 21A, also known as KIF21A, is a human gene.^[1]

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]^[1]

[edit] References

^ ^a ^b Entrez Gene: KIF21A kinesin family member 21A.

[edit] 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): 1254–9. 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): 169–76. PMID 9734811.
Marszalek JR, Weiner JA, Farlow SJ, et al. (1999). "Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B.". J. Cell Biol. 145 (3): 469–79. PMID 10225949.
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): 456–64. 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): 347–55. 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): 16899–903. doi:10.1073/pnas.242603899. 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. 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): 318–21. 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): 40–5. 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): 2218–23. 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): 2121–7. doi:10.1101/gr.2596504. 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): 241–6. 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): 247–55. 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): 530–9. 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): 443–7. 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. PMID 17511870.