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Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_015634 Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_015634.3, 291190751
Length 2548 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, 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## 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
73+a, gdbSNP:116772651
93+a, gdbSNP:199849981
160+g, tdbSNP:201777829
180+a, gdbSNP:148768851
190+a, gdbSNP:144067344
262+c, tdbSNP:112658372
308+c, tdbSNP: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
496+c, tdbSNP:149625214
512+g, tdbSNP:200399485
517+c, tdbSNP:143950359
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
727+dbSNP:
727+a, gdbSNP:146627673
800+c, tdbSNP:191873145
840+c, gdbSNP:141052402
845+c, tdbSNP:140826893
906+dbSNP:
906+a, gdbSNP:149706162
985+c, tdbSNP:111997538
986+a, gdbSNP:201438642
995+dbSNP:
995+g, tdbSNP:1136102
1013+a, gdbSNP:149809657
1037+a, gdbSNP:76319365
1073+c, gdbSNP:200525249
1074+c, tdbSNP:199510149
1075+c, tdbSNP:201076497
1077+c, tdbSNP:141279010
1081..1082+, tdbSNP:34304938
1113+dbSNP:
1113+c, gdbSNP:113952834
1135+a, gdbSNP:16926021
1178+a, gdbSNP:138090713
1204+a, gdbSNP:138802223
1214+a, gdbSNP:200669180
1216+c, tdbSNP:148938646
1223+a, tdbSNP:202157293
1224+c, gdbSNP:200179572
1438+a, gdbSNP:143815412
1458+a, gdbSNP:201404470
1501+a, cdbSNP:114205227
1511+c, tdbSNP:142011043
1580+a, gdbSNP:147288545
1596+g, tdbSNP:139261765
1765+c, tdbSNP:35893997
1766+c, tdbSNP:147387308
1873+c, tdbSNP:41279644
1889+a, gdbSNP:201007879
1998+a, gdbSNP:201287646
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
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_015634 Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA. On-demand $849.00 20
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,A.L., Smemo,S., Kauwe,J.S., Maxwell,T.J., 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,C.M., Catanese,J., Sninsky,J., White,T.J., Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L., Morris,J.C., 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,A.S., Bertoli-Avella,A.M., Burzynski,G.M., Breedveld,G.J., Osinga,J., Boven,L.G., Hurst,J.A., Mancini,G.M., Lequin,M.H., de Coo,R.F., Matera,I., de Graaff,E., Meijers,C., Willems,P.J., Tibboel,D., Oostra,B.A. and Hofstra,R.M.
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,M.J., Melzer,M., Dorner,C., Haring,H.U. and Lammers,R.
Journal BMC Cell Biol. 6, 35 (2005)


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