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Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006009 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_006009.3, 393715088
Length 1930 bp
Structure linear
Update Date 20-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 1, mRNA.
Product tubulin alpha-1A chain isoform 1
Comment

Summary: Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blotting studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012].


Transcript Variant: This variant (1) represents the shortest transcript and encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1) but use distinct start codons.

RefSeq NP_006000.2
CDS 346..1701
Misc Feature(1)283..285
Misc Feature(2)346..1641
Misc Feature(3)346..1641
Misc Feature(4)349..1641
Misc Feature(5)order(349..351,940..942,1102..1107,1111..1119,1123..1128,
Misc Feature(6)order(373..381,388..393,550..558,565..567,640..648,
Misc Feature(7)order(559..564,643..651,658..660,886..888,892..894,
Misc Feature(8)1660..1662
Misc Feature(9)1696..1698
Misc Feature(10)1696..1698
Exon (1)1..348
Gene:TUBA1A
Gene Synonym:B-ALPHA-1; LIS3; TUBA3
Exon (2)349..571
Gene:TUBA1A
Gene Synonym:B-ALPHA-1; LIS3; TUBA3
Exon (3)572..720
Gene:TUBA1A
Gene Synonym:B-ALPHA-1; LIS3; TUBA3
Exon (4)721..1916
Gene:TUBA1A
Gene Synonym:B-ALPHA-1; LIS3; TUBA3
Translation MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGK HVPRAVFVDLEPTVIDEVRTGTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIIDLVLD RIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVDYGKKSKLEFSIYPAPQVSTA VVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPAN QMVKCDPRHGKYMACCLLYRGDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPP TVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSE AREDMAALEKDYEEVGVDSVEGEGEEEGEEY
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Position Chain Variation Link
complement(63)-dbSNP:
complement(63)-t, cdbSNP:192252132
complement(112)-g, cdbSNP:187974148
complement(289)-t, cdbSNP:182661252
complement(292)-g, adbSNP:11558063
complement(307)-t, c, adbSNP:11558074
complement(331)-g, adbSNP:192151179
complement(369)-dbSNP:
complement(369)-g, adbSNP:143047732
complement(441)-g, adbSNP:139102191
complement(468)-g, adbSNP:200198307
complement(488)-c, adbSNP:11558073
complement(498)-g, cdbSNP:11558072
complement(510)-g, adbSNP:1055904
complement(516)-t, gdbSNP:1055956
complement(534)-g, adbSNP:147273934
complement(591)-dbSNP:
complement(591)-t, cdbSNP:1134868
complement(633)-g, adbSNP:1056875
complement(723)-dbSNP:
complement(723)-t, cdbSNP:1135224
complement(729)-t, cdbSNP:201704429
complement(735)-g, c, adbSNP:1143559
complement(736)-g, adbSNP:11558067
complement(741)-t, cdbSNP:1143560
complement(753)-t, cdbSNP:201587501
complement(762)-t, cdbSNP:11558068
complement(798)-g, cdbSNP:697624
complement(855)-g, adbSNP:112023543
complement(864)-t, cdbSNP:200372205
complement(867)-t, cdbSNP:61730859
complement(907)-c, adbSNP:137853045
complement(910)-g, adbSNP:113208258
complement(924)-g, adbSNP:140239444
complement(1002)-g, adbSNP:146680997
complement(1131)-g, adbSNP:150119665
complement(1132)-c, adbSNP:137853046
complement(1135)-t, cdbSNP:137853043
complement(1164)-g, adbSNP:140795162
complement(1166..1167)-, gdbSNP:34268631
complement(1204)-t, adbSNP:150978489
complement(1311)-g, adbSNP:142641191
complement(1341)-g, adbSNP:148479477
complement(1353)-t, cdbSNP:11829764
complement(1389)-g, adbSNP:144574983
complement(1440)-g, adbSNP:140737357
complement(1458..1459)-, tadbSNP:200449362
complement(1512)-g, adbSNP:199813289
complement(1535)-t, cdbSNP:137853048
complement(1548)-g, adbSNP:1065724
complement(1550)-g, adbSNP:137853044
complement(1593)-t, cdbSNP:3206694
complement(1599)-g, adbSNP:201884190
complement(1601)-t, cdbSNP:137853047
complement(1603)-t, cdbSNP:11558065
complement(1608)-g, cdbSNP:11558070
complement(1609)-t, cdbSNP:137853049
complement(1610)-g, adbSNP:137853050
complement(1665)-t, cdbSNP:11558069
complement(1684)-g, adbSNP:1065730
complement(1692)-t, cdbSNP:200873943
complement(1714)-c, adbSNP:1062437
complement(1727)-c, adbSNP:185938303
complement(1788)-t, cdbSNP:11558066
complement(1807)-t, cdbSNP:1062439
complement(1815)-g, adbSNP:150293856
complement(1833)-t, cdbSNP:1062440
complement(1875)-t, cdbSNP:1062441
complement(1912)-t, cdbSNP:140121590
Gene SymbolTUBA1A
Gene SynonymB-ALPHA-1; LIS3; TUBA3
Chromosome12
Locus Map12q13.12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001270399 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 2, mRNA. On-demand $699.00 18
NM_001270400 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 3, mRNA. On-demand $699.00 18
NM_006009 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 1, mRNA. On-demand $699.00 18
Title Overlapping cortical malformations and mutations in TUBB2B and TUBA1A .
Author Cushion,T.D., Dobyns,W.B., Mullins,J.G., Stoodley,N., Chung,S.K., Fry,A.E., Hehr,U., Gunny,R., Aylsworth,A.S., Prabhakar,P., Uyanik,G., Rankin,J., Rees,M.I. and Pilz,D.T.
Journal Brain 136 (PT 2), 536-548 (2013)
Title High glucose levels induce inhibition of Na,K-ATPase via stimulation of aldose reductase, formation of microtubules and formation of an acetylated tubulin/Na,K-ATPase complex .
Author Rivelli,J.F., Amaiden,M.R., Monesterolo,N.E., Previtali,G., Santander,V.S., Fernandez,A., Arce,C.A. and Casale,C.H.
Journal Int. J. Biochem. Cell Biol. 44 (8), 1203-1213 (2012)
Title TUBA1A mutation-associated lissencephaly: case report and review of the literature .
Author Sohal,A.P., Montgomery,T., Mitra,D. and Ramesh,V.
Journal Pediatr. Neurol. 46 (2), 127-131 (2012)
Title Alpha2B-adrenergic receptor interaction with tubulin controls its transport from the endoplasmic reticulum to the cell surface .
Author Duvernay,M.T., Wang,H., Dong,C., Guidry,J.J., Sackett,D.L. and Wu,G.
Journal J. Biol. Chem. 286 (16), 14080-14089 (2011)
Title TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria .
Author Jansen,A.C., Oostra,A., Desprechins,B., De Vlaeminck,Y., Verhelst,H., Regal,L., Verloo,P., Bockaert,N., Keymolen,K., Seneca,S., De Meirleir,L. and Lissens,W.
Journal Neurology 76 (11), 988-992 (2011)
Title Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit .
Author Sapir,T., Elbaum,M. and Reiner,O.
Journal EMBO J. 16 (23), 6977-6984 (1997)
Title The N-terminal domain of c-Myc associates with alpha-tubulin and microtubules in vivo and in vitro .
Author Alexandrova,N., Niklinski,J., Bliskovsky,V., Otterson,G.A., Blake,M., Kaye,F.J. and Zajac-Kaye,M.
Journal Mol. Cell. Biol. 15 (9), 5188-5195 (1995)
Title Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function .
Author Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
Journal J. Cell Biol. 129 (6), 1617-1628 (1995)
Title Structural features and restricted expression of a human alpha-tubulin gene .
Author Hall,J.L. and Cowan,N.J.
Journal Nucleic Acids Res. 13 (1), 207-223 (1985)
Title Expression of human alpha-tubulin genes: interspecies conservation of 3' untranslated regions .
Author Cowan,N.J., Dobner,P.R., Fuchs,E.V. and Cleveland,D.W.
Journal Mol. Cell. Biol. 3 (10), 1738-1745 (1983)


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