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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 11-MAY-2014
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..1665
Misc Feature(3)346..1665
Misc Feature(4)349..1650
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(277)-t, cdbSNP:371310839
complement(289)-t, cdbSNP:182661252
292+a, gdbSNP:11558063
307+a, c, tdbSNP:11558074
complement(331)-g, adbSNP:192151179
358+dbSNP:
358+a, cdbSNP:387906840
complement(369)-g, adbSNP:143047732
complement(411)-t, cdbSNP:375516850
complement(441)-g, adbSNP:139102191
complement(468)-g, adbSNP:200198307
488+a, cdbSNP:11558073
complement(489)-g, adbSNP:372306943
498+c, gdbSNP:11558072
510+a, gdbSNP:1055904
516+g, tdbSNP:1055956
complement(534)-g, adbSNP:147273934
591+dbSNP:
591+c, tdbSNP:1134868
633+a, gdbSNP:1056875
723+dbSNP:
723+c, tdbSNP:1135224
complement(729)-t, cdbSNP:201704429
735+a, c, gdbSNP:1143559
736+a, gdbSNP:11558067
741+c, tdbSNP:1143560
complement(753)-t, cdbSNP:201587501
762+c, tdbSNP:11558068
798+c, gdbSNP:697624
complement(855)-g, adbSNP:112023543
complement(861)-g, adbSNP:370227094
complement(864)-t, cdbSNP:200372205
complement(867)-t, cdbSNP:61730859
907+a, cdbSNP:137853045
complement(910)-g, adbSNP:113208258
complement(924)-g, adbSNP:140239444
complement(1002)-g, adbSNP:146680997
complement(1056)-g, adbSNP:267603493
1132+a, cdbSNP:137853046
1135+c, tdbSNP: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(1353)-t, cdbSNP:111705962
complement(1389)-g, adbSNP:144574983
complement(1440)-g, adbSNP:140737357
complement(1458..1459)-, tadbSNP:200449362
complement(1512)-g, adbSNP:199813289
1535+c, tdbSNP:137853048
1548+a, gdbSNP:1065724
1550+a, gdbSNP:137853044
1593+c, tdbSNP:3206694
complement(1599)-g, adbSNP:201884190
1601+c, tdbSNP:137853047
complement(1603)-t, cdbSNP:11558065
1608+c, gdbSNP:11558070
1609+c, tdbSNP:137853049
1610+a, gdbSNP:137853050
1665+c, tdbSNP:11558069
1684+a, gdbSNP:1065730
complement(1692)-t, cdbSNP:200873943
complement(1710)-g, adbSNP:371718931
1714+a, cdbSNP:1062437
complement(1727)-c, adbSNP:185938303
complement(1788)-t, cdbSNP:11558066
1807+c, tdbSNP:1062439
complement(1815)-g, adbSNP:150293856
1833+c, tdbSNP:1062440
1875+c, tdbSNP:1062441
1912+c, tdbSNP: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_006009 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 1, mRNA. On-demand $699.00 18
NM_001270400 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 3, mRNA. On-demand $699.00 18
NM_001270399 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 2, mRNA. On-demand $699.00 18
Title Brain malformations and mutations in alpha- and beta-tubulin genes: a review of the literature and description of two new cases .
Author Romaniello R, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi MT and Borgatti R.
Journal Dev Med Child Neurol 56 (4), 354-360 (2014)
Title Tubulin-interactive stilbene derivatives as anticancer agents .
Author Mikstacka R, Stefanski T and Rozanski J.
Journal Cell. Mol. Biol. Lett. 18 (3), 368-397 (2013)
Title Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria .
Author Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J and Bahi-Buisson N.
Journal Eur. J. Hum. Genet. 21 (4), 381-385 (2013)
Title Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation .
Author Okumura A, Hayashi M, Tsurui H, Yamakawa Y, Abe S, Kudo T, Suzuki R, Shimizu T, Shimojima K and Yamamoto T.
Journal Brain Dev. 35 (3), 274-279 (2013)
Title Overlapping cortical malformations and mutations in TUBB2B and TUBA1A .
Author Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI and Pilz DT.
Journal Brain 136 (PT 2), 536-548 (2013)
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 GA, Blake M, Kaye FJ 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 RM, Mundt KE, Fry AM and Nigg EA.
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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