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{{ | '''Kinesin-like protein KIF21A''' is a [[protein]] that in humans is encoded by the ''KIF21A'' [[gene]].<ref name="pmid10225949">{{cite journal |vauthors=Marszalek JR, Weiner JA, Farlow SJ, Chun J, Goldstein LS | title = Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B | journal = J Cell Biol | volume = 145 | issue = 3 | pages = 469–479 |date=Jun 1999 | pmid = 10225949 | pmc = 2185086 | doi =10.1083/jcb.145.3.469 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: KIF21A kinesin family member 21A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55605| accessdate = }}</ref> | ||
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| summary_text = 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]<ref name="entrez" | | summary_text = 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]<ref name="entrez" /> | ||
}} | }} | ||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin|2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | | *{{cite journal |vauthors=Yamada K, Hunter DG, Andrews C, Engle EC |title=A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon |journal=Arch. Ophthalmol. |volume=123 |issue= 9 |pages= 1254–1259 |year= 2005 |pmid= 16157808 |doi= 10.1001/archopht.123.9.1254 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Engle EC, Kunkel LM, Specht LA, Beggs AH |title=Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12 |journal=Nat. Genet. |volume=7 |issue= 1 |pages= 69–73 |year= 1994 |pmid= 8075644 |doi= 10.1038/ng0594-69 }} | ||
*{{cite journal | author=Ishikawa K | *{{cite journal | author=Ishikawa K |title=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 |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–176 |year= 1998 |pmid= 9734811 |doi=10.1093/dnares/5.3.169 |name-list-format=vanc| author2=Nagase T | author3=Suyama M | display-authors=3 | last4=Miyajima | first4=N | last5=Tanaka | first5=A | last6=Kotani | first6=H | last7=Nomura | first7=N | last8=Ohara | first8=O }} | ||
*{{cite journal | author=Scanlan MJ |title=Antigens recognized by autologous antibody in patients with renal-cell carcinoma |journal=Int. J. Cancer |volume=83 |issue= 4 |pages= 456–464 |year= 1999 |pmid= 10508479 |doi=10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5 |name-list-format=vanc| author2=Gordan JD | author3=Williamson B | display-authors=3 | last4=Stockert | first4=Elisabeth | last5=Bander | first5=Neil H. | last6=Jongeneel | first6=Victor | last7=Gure | first7=Ali O. | last8=Jäger | first8=Dirk | last9=Jäger | first9=Elke }} | |||
*{{cite journal | author=Scanlan MJ | *{{cite journal | author=Nagase T |title=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 |journal=DNA Res. |volume=7 |issue= 6 |pages= 347–355 |year= 2001 |pmid= 11214970 |doi=10.1093/dnares/7.6.347 |name-list-format=vanc| author2=Kikuno R | author3=Hattori A | display-authors=3 | last4=Kondo | first4=Y | last5=Okumura | first5=K | last6=Ohara | first6=O }} | ||
*{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }} | |||
*{{cite journal | author= | *{{cite journal |vauthors=Magli A, de Berardinis T, D'Esposito F, Gagliardi V |title=Clinical and surgical data of affected members of a classic CFEOM I family |journal=BMC Ophthalmology |volume=3|pages= 6 |year= 2004 |pmid= 12702216 |doi= | pmc=155649 }} | ||
*{{cite journal | author=Yamada K |title=Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) |journal=Nat. Genet. |volume=35 |issue= 4 |pages= 318–321 |year= 2004 |pmid= 14595441 |doi= 10.1038/ng1261 |name-list-format=vanc| author2=Andrews C | author3=Chan WM | display-authors=3 | last4=McKeown | first4=Craig A | last5=Magli | first5=Adriano | last6=De Berardinis | first6=Teresa | last7=Loewenstein | first7=Anat | last8=Lazar | first8=Moshe | last9=O'Keefe | first9=Michael }} | |||
*{{cite journal | author= | *{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }} | ||
*{{cite journal | author=Yamada K |title=Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3) |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 7 |pages= 2218–2223 |year= 2004 |pmid= 15223798 |doi=10.1167/iovs.03-1413 |name-list-format=vanc| author2=Chan WM | author3=Andrews C | display-authors=3 | last4=Bosley | first4=TM | last5=Sener | first5=EC | last6=Zwaan | first6=JT | last7=Mullaney | first7=PB | last8=Oztürk | first8=BT | last9=Akarsu | first9=AN }} | |||
*{{cite journal | | *{{cite journal | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–2127 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }} | ||
*{{cite journal | author= | *{{cite journal | author=Tiab L |title=Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients |journal=Ophthalmic Genet. |volume=25 |issue= 4 |pages= 241–246 |year= 2005 |pmid= 15621876 |doi= 10.1080/13816810490902828 |name-list-format=vanc| author2=d'Allèves Manzi V | author3=Borruat FX | display-authors=3 | last4=Munier | first4=Francis | last5=Schorderet | first5=Daniel }} | ||
*{{cite journal |vauthors=Ali M, Venkatesh C, Ragunath A, Kumar A |title=Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations |journal=Ophthalmic Genet. |volume=25 |issue= 4 |pages= 247–255 |year= 2005 |pmid= 15621877 |doi= 10.1080/13816810490498198 }} | |||
*{{cite journal | author= | *{{cite journal |vauthors=Demer JL, Clark RA, Engle EC |title=Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 2 |pages= 530–539 |year= 2005 |pmid= 15671279 |doi= 10.1167/iovs.04-1125 }} | ||
*{{cite journal | author=Lin LK |title=KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 |journal=Mol. Vis. |volume=11 |issue= |pages= 245–8 |year= 2006 |pmid= 15827546 |doi= |name-list-format=vanc| author2=Chien YH | author3=Wu JY | display-authors=3 | last4=Wang | first4=AH | last5=Chiang | first5=SC | last6=Hwu | first6=WL }} | |||
*{{cite journal | author= | *{{cite journal |vauthors=Shimizu S, Okinaga A, Maruo T |title=Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles |journal=Jpn. J. Ophthalmol. |volume=49 |issue= 6 |pages= 443–447 |year= 2006 |pmid= 16365788 |doi= 10.1007/s10384-005-0243-7 }} | ||
*{{cite journal | author=Chan WM |title=Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1 |journal=BMC Genet. |volume=8|pages= 26 |year= 2007 |pmid= 17511870 |doi= 10.1186/1471-2156-8-26 | pmc=1888713 |name-list-format=vanc| author2=Andrews C | author3=Dragan L | display-authors=3 | last4=Fredrick | first4=Douglas | last5=Armstrong | first5=Linlea | last6=Lyons | first6=Christopher | last7=Geraghty | first7=Michael T | last8=Hunter | first8=David G | last9=Yazdani | first9=Ahmad }} | |||
*{{cite journal | author= | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
{{ | == External links == | ||
{{ | * [https://web.archive.org/web/20100306000036/http://www.childrenshospital.org/cfapps/research/data_admin/Site339/mainpageS339P18sublevel13.html Engle Laboratory CFEOM page] | ||
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cfeom GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles] | |||
* [https://www.ncbi.nlm.nih.gov/omim/135700,600638,602078,602661,602753,608283,609384,609428 OMIM entries on Congenital Fibrosis of the Extraocular Muscles] | |||
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{{gene-12-stub}} |
Latest revision as of 15:38, 16 February 2018
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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Location (UCSC) | n/a | n/a | |||||
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Kinesin-like protein KIF21A is a protein that in humans is encoded by the KIF21A gene.[1][2]
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][2]
References
- ↑ 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.
- ↑ 2.0 2.1 "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. 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
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