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Database:

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Homo sapiens KIAA1279 (KIAA1279), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26093 Homo sapiens KIAA1279 (KIAA1279), mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu26093C Homo sapiens KIAA1279 (KIAA1279), mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_015634.3, 291190751
Length 1866 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens KIAA1279 (KIAA1279), mRNA.
Product KIF1-binding protein
Comment

Summary: This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010].


##Evidence-Data-START## Transcript exon combination :: BC006427.1, AB033105.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END##


##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_056449.1
CDS 113..1978
Misc Feature(1)848..1957
Misc Feature(2)848..1957
Exon (1)1..538
Gene:KIAA1279
Gene Synonym:KBP; TTC20
Exon (2)539..637
Gene:KIAA1279
Gene Synonym:KBP; TTC20
Exon (3)638..717
Gene:KIAA1279
Gene Synonym:KBP; TTC20
Exon (4)718..901
Gene:KIAA1279
Gene Synonym:KBP; TTC20
Exon (5)902..986
Gene:KIAA1279
Gene Synonym:KBP; TTC20
Exon (6)987..1102
Gene:KIAA1279
Gene Synonym:KBP; TTC20
Exon (7)1103..2545
Gene:KIAA1279
Gene Synonym:KBP; TTC20
Translation MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDER PEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVK CLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPP LDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLE HNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVP ELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRK KAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHI EVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHA YYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVL RPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELS KEMVSLLPTKMERFRTKMALT
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Position Chain Variation Link
57+dbSNP:
57+a, gdbSNP:187872398
63+a, cdbSNP:376667353
73+a, gdbSNP:116772651
93+a, gdbSNP:199849981
100+a, gdbSNP:370519695
112+c, tdbSNP:377211706
118+g, tdbSNP:370609098
160+g, tdbSNP:201777829
178+a, gdbSNP:368452753
180+a, gdbSNP:148768851
190+a, gdbSNP:144067344
228+c, gdbSNP:372223602
262+c, tdbSNP:112658372
294+c, gdbSNP:371300766
complement(308)-t, cdbSNP:2255607
314+c, gdbSNP:201068859
334+a, gdbSNP:11554780
362+g, tdbSNP:121434515
364+g, tdbSNP:192748736
380+c, tdbSNP:121434514
442+a, gdbSNP:138264661
479+a, cdbSNP:372695759
496+c, tdbSNP:149625214
512+g, tdbSNP:200399485
517+c, tdbSNP:143950359
533+a, gdbSNP:375084646
629+dbSNP:
629+a, gdbSNP:200596309
630+a, gdbSNP:62625033
637+c, gdbSNP:144317643
662+dbSNP:
662+a, gdbSNP:112642097
668+c, tdbSNP:200098813
669+a, gdbSNP:139483880
696+c, gdbSNP:377072770
727+dbSNP:
727+a, gdbSNP:146627673
768+a, gdbSNP:370670715
781+a, gdbSNP:368916440
796+g, tdbSNP:373081651
800+c, tdbSNP:191873145
817+a, gdbSNP:376375367
840+c, gdbSNP:141052402
845+c, tdbSNP:140826893
906+dbSNP:
906+a, gdbSNP:149706162
911+a, gdbSNP:374135003
985+c, tdbSNP:111997538
986+a, gdbSNP:201438642
995+dbSNP:
995+g, tdbSNP:1136102
1013+a, gdbSNP:149809657
complement(1037)-g, adbSNP:76319365
1073+c, gdbSNP:200525249
1074+c, tdbSNP:199510149
1075+c, tdbSNP:201076497
1077+c, tdbSNP:141279010
1081..1082+, tdbSNP:34304938
1108+dbSNP:
1108+a, cdbSNP:374306964
1113+c, gdbSNP:113952834
1135+a, gdbSNP:16926021
1178+a, gdbSNP:138090713
1188+a, gdbSNP:371267544
1204+a, gdbSNP:138802223
1205+a, tdbSNP:374297499
1214+a, gdbSNP:200669180
1216+c, tdbSNP:148938646
1223+a, tdbSNP:202157293
1224+c, gdbSNP:200179572
1264+c, gdbSNP:371981506
1371+c, tdbSNP:377298939
1391+a, gdbSNP:370902866
1409+c, gdbSNP:373810468
1438+a, gdbSNP:143815412
1440+a, gdbSNP:377744293
1458+a, gdbSNP:201404470
1501+a, cdbSNP:114205227
1511+c, tdbSNP:142011043
1516+a, gdbSNP:370121940
1561+a, tdbSNP:375318030
1580+a, gdbSNP:147288545
1596+g, tdbSNP:139261765
1733+c, tdbSNP:374074903
1734+a, gdbSNP:368405054
1735+c, tdbSNP:372051203
1765+c, tdbSNP:35893997
1766+c, tdbSNP:147387308
1767+g, tdbSNP:368655395
1797+c, tdbSNP:372342802
1873+c, tdbSNP:41279644
1880+a, gdbSNP:374731910
1889+a, gdbSNP:201007879
1960+c, gdbSNP:371537907
1998+a, gdbSNP:201287646
2010+a, gdbSNP:368699219
2111+c, gdbSNP:149549024
2265+a, gdbSNP:117104980
2361+a, gdbSNP:192819380
2393+c, tdbSNP:1058645
2400+a, cdbSNP:6864
2473+c, gdbSNP:182981371
Gene SymbolKIAA1279
Gene SynonymKBP; TTC20
Chromosome10
Locus Map10q22.1
Title KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome .
Author Drevillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M and Giurgea I.
Journal Hum. Mol. Genet. 22 (12), 2387-2399 (2013)
Title A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease .
Author Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J and Goate A.
Journal Am. J. Hum. Genet. 78 (1), 78-88 (2006)
Title Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems .
Author Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA and Hofstra RM.
Journal Am. J. Hum. Genet. 77 (1), 120-126 (2005)
Title The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein .
Author Wozniak MJ, Melzer M, Dorner C, Haring HU and Lammers R.
Journal BMC Cell Biol. 6, 35 (2005)
Title Hirschsprung Disease Overview .
Author Parisi,M.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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