KIF21A

KIF21A
Identifiers
Aliases	KIF21A , CFEOM1, FEOM1, FEOM3A, kinesin family member 21A
External IDs	OMIM: 608283; MGI: 109188; HomoloGene: 56761; GeneCards: KIF21A; OMA:KIF21A - orthologs
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 90,817,479 bp [2] End 90,934,151 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spinal ganglia pars compacta pons superior vestibular nucleus lateral nuclear group of thalamus pars reticulata bronchial epithelial cell palpebral conjunctiva Brodmann area 23 ventral tegmental area Top expressed in habenula facial motor nucleus ventricular zone dorsomedial hypothalamic nucleus primary motor cortex mammillary body ventromedial nucleus medial vestibular nucleus central gray substance of midbrain lateral hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule binding microtubule motor activity nucleotide binding ATPase activity protein binding ATP binding Cellular component cytoplasm microtubule cytoskeleton kinesin complex cytosol plasma 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: 90.82 – 90.93 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

KIF21A belongs to a family of plus end-directed kinesin motor proteins. Neurons use kinesin and dynein microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules. ^[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. S2CID   8041627.
• 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. S2CID   21839750.
• 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. Bibcode:2002PNAS...9916899M. 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. S2CID   3238099.
• 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. S2CID   25937983.
• 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. S2CID   21494906.
• 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. S2CID   189785805.
• 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