LOCUS       NM_006009               1672 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tubulin alpha 1a (TUBA1A), transcript variant 1, mRNA.
ACCESSION   NM_006009
VERSION     NM_006009.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1672)
  AUTHORS   Wen,J., Wang,Q., Zhang,W. and Wang,W.
  TITLE     TUBA1A licenses APC/C-mediated mitotic progression to drive
            glioblastoma growth by inhibiting PLK3
  JOURNAL   FEBS Lett 597 (24), 3072-3086 (2023)
   PUBMED   37873730
  REMARK    GeneRIF: TUBA1A licenses APC/C-mediated mitotic progression to
            drive glioblastoma growth by inhibiting PLK3.
REFERENCE   2  (bases 1 to 1672)
  AUTHORS   Gui,M., Croft,J.T., Zabeo,D., Acharya,V., Kollman,J.M.,
            Burgoyne,T., Hoog,J.L. and Brown,A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   3  (bases 1 to 1672)
  AUTHORS   Hoff,K.J., Aiken,J.E., Gutierrez,M.A., Franco,S.J. and Moore,J.K.
  TITLE     TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and
            override XMAP215/Stu2 regulation of microtubule dynamics
  JOURNAL   Elife 11, e76189 (2022)
   PUBMED   35511030
  REMARK    GeneRIF: TUBA1A tubulinopathy mutants disrupt neuron morphogenesis
            and override XMAP215/Stu2 regulation of microtubule dynamics.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1672)
  AUTHORS   Schroter,J., Popp,B., Brennenstuhl,H., Doring,J.H., Donze,S.H.,
            Bijlsma,E.K., van Haeringen,A., Huhle,D., Jestaedt,L.,
            Merkenschlager,A., Arelin,M., Grafe,D., Neuser,S., Oates,S.,
            Pal,D.K., Parker,M.J., Lemke,J.R., Hoffmann,G.F., Kolker,S.,
            Harting,I. and Syrbe,S.
  TITLE     Complementing the phenotypical spectrum of TUBA1A tubulinopathy and
            its role in early-onset epilepsies
  JOURNAL   Eur J Hum Genet 30 (3), 298-306 (2022)
   PUBMED   35017693
  REMARK    GeneRIF: Complementing the phenotypical spectrum of TUBA1A
            tubulinopathy and its role in early-onset epilepsies.
REFERENCE   5  (bases 1 to 1672)
  AUTHORS   Tracy,T.E., Madero-Perez,J., Swaney,D.L., Chang,T.S., Moritz,M.,
            Konrad,C., Ward,M.E., Stevenson,E., Huttenhain,R., Kauwe,G.,
            Mercedes,M., Sweetland-Martin,L., Chen,X., Mok,S.A., Wong,M.Y.,
            Telpoukhovskaia,M., Min,S.W., Wang,C., Sohn,P.D., Martin,J.,
            Zhou,Y., Luo,W., Trojanowski,J.Q., Lee,V.M.Y., Gong,S.,
            Manfredi,G., Coppola,G., Krogan,N.J., Geschwind,D.H. and Gan,L.
  TITLE     Tau interactome maps synaptic and mitochondrial processes
            associated with neurodegeneration
  JOURNAL   Cell 185 (4), 712-728 (2022)
   PUBMED   35063084
REFERENCE   6  (bases 1 to 1672)
  AUTHORS   Alexandrova,N., Niklinski,J., Bliskovsky,V., Otterson,G.A.,
            Blake,M., Kaye,F.J. and Zajac-Kaye,M.
  TITLE     The N-terminal domain of c-Myc associates with alpha-tubulin and
            microtubules in vivo and in vitro
  JOURNAL   Mol Cell Biol 15 (9), 5188-5195 (1995)
   PUBMED   7651436
REFERENCE   7  (bases 1 to 1672)
  AUTHORS   Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   8  (bases 1 to 1672)
  AUTHORS   Bahi-Buisson,N. and Maillard,C.
  TITLE     Tubulinopathies Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27010057
REFERENCE   9  (bases 1 to 1672)
  AUTHORS   Hall,J.L. and Cowan,N.J.
  TITLE     Structural features and restricted expression of a human
            alpha-tubulin gene
  JOURNAL   Nucleic Acids Res 13 (1), 207-223 (1985)
   PUBMED   3839072
REFERENCE   10 (bases 1 to 1672)
  AUTHORS   Cowan,N.J., Dobner,P.R., Fuchs,E.V. and Cleveland,D.W.
  TITLE     Expression of human alpha-tubulin genes: interspecies conservation
            of 3' untranslated regions
  JOURNAL   Mol Cell Biol 3 (10), 1738-1745 (1983)
   PUBMED   6646120
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC340080.1, BC006468.1 and
            BC057823.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006009.3.
            
            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 blot 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,
            intellectual disability, and early-onset epilepsy caused by
            defective neuronal migration. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, Jul 2017].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1006698.1,
                                           SRR3476690.1057937.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301071.12/ ENSP00000301071.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                DC340080.1         245-291
            48-1668             BC006468.1         1-1621
            1669-1672           BC057823.1         1664-1667
FEATURES             Location/Qualifiers
     source          1..1672
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..1672
                     /gene="TUBA1A"
                     /gene_synonym="B-ALPHA-1; LIS3; TUBA3"
                     /note="tubulin alpha 1a"
                     /db_xref="GeneID:7846"
                     /db_xref="HGNC:HGNC:20766"
                     /db_xref="MIM:602529"
     exon            1..104
                     /gene="TUBA1A"
                     /gene_synonym="B-ALPHA-1; LIS3; TUBA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..1457
                     /gene="TUBA1A"
                     /gene_synonym="B-ALPHA-1; LIS3; TUBA3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hum-a-tub1; hum-a-tub2; tubulin, alpha, brain-specific;
                     tubulin B-alpha-1; tubulin alpha-3 chain"
                     /codon_start=1
                     /product="tubulin alpha-1A chain isoform 1"
                     /protein_id="NP_006000.2"
                     /db_xref="CCDS:CCDS8781.1"
                     /db_xref="GeneID:7846"
                     /db_xref="HGNC:HGNC:20766"
                     /db_xref="MIM:602529"
                     /translation="MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGG
                     GDDSFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRTGTYRQLFHPEQLITGKEDAANN
                     YARGHYTIGKEIIDLVLDRIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVD
                     YGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLD
                     IERPTYTNLNRLIGQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVI
                     SAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCLLYRGDVVPKDVNAAIAT
                     IKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLD
                     HKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEVGVDSVEGEGEEEGEE
                     Y"
     exon            105..327
                     /gene="TUBA1A"
                     /gene_synonym="B-ALPHA-1; LIS3; TUBA3"
                     /inference="alignment:Splign:2.1.0"
     exon            328..476
                     /gene="TUBA1A"
                     /gene_synonym="B-ALPHA-1; LIS3; TUBA3"
                     /inference="alignment:Splign:2.1.0"
     exon            477..1672
                     /gene="TUBA1A"
                     /gene_synonym="B-ALPHA-1; LIS3; TUBA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1646..1651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBA1A"
                     /gene_synonym="B-ALPHA-1; LIS3; TUBA3"
                     /note="hexamer: AATAAA"
     polyA_site      1672
                     /gene="TUBA1A"
                     /gene_synonym="B-ALPHA-1; LIS3; TUBA3"
                     /note="major polyA site"
ORIGIN      
        1 gcaggttctc ttacatcgac cgcctaagag tcgcgctgta agaagcaaca acctctcctc
       61 ttcgtctccg ccatcagctc ggcagtcgcg aagcagcaac catgcgtgag tgcatctcca
      121 tccacgttgg ccaggctggt gtccagattg gcaatgcctg ctgggagctc tactgcctgg
      181 aacacggcat ccagcccgat ggccagatgc caagtgacaa gaccattggg ggaggagatg
      241 attccttcaa caccttcttc agtgagacgg gggctggcaa gcatgtgccc cgggcagtgt
      301 ttgtagactt ggaacccaca gtcattgatg aagttcgcac tggcacctac cgccagctct
      361 tccaccctga gcaacttatc acaggcaaag aagatgctgc caataactat gcccgagggc
      421 actacaccat tggcaaggag atcattgacc tcgtgttgga ccgaattcgc aagctggccg
      481 accagtgcac gggtctccag ggcttcttgg ttttccacag ctttggtggg ggaactggtt
      541 ctgggttcac ctcgctgctc atggaacgtc tctcagttga ttatggcaag aagtccaagc
      601 tggagttctc tatttacccg gcgccccagg tttccacagc tgtagttgag ccctacaact
      661 ccatcctcac cacccacacc accctggagc actctgattg tgccttcatg gtagacaatg
      721 aggccatcta tgacatctgt cgtagaaacc tcgatattga gcgtccaacc tatactaacc
      781 tgaataggtt aataggtcaa attgtgtcct ccatcactgc ttccctgaga tttgatggag
      841 ccctgaatgt tgacctgaca gaattccaga ccaacctggt gccctatccc cgcatccact
      901 tccctctggc cacatatgcc cctgtcatct ctgctgagaa agcctaccat gaacagcttt
      961 ctgtagcaga gatcaccaat gcttgctttg agccagccaa ccagatggtg aaatgtgacc
     1021 ctcgccatgg taaatacatg gcttgctgcc tgttgtaccg tggtgacgtg gttcccaaag
     1081 atgtcaatgc tgccattgcc accatcaaga ccaagcgtac catccagttt gtggattggt
     1141 gccccactgg cttcaaggtt ggcatcaact accagcctcc cactgtggtg cctggtggag
     1201 acctggccaa ggtacagaga gctgtgtgca tgctgagcaa caccacagcc attgctgagg
     1261 cctgggctcg cctggaccac aagtttgacc tgatgtatgc caaacgtgcc tttgttcact
     1321 ggtacgttgg ggaggggatg gaggaaggtg agttttcaga ggcccgtgag gacatggctg
     1381 cccttgagaa ggattatgag gaggttggtg tggattctgt tgaaggagag ggtgaggaag
     1441 aaggagagga atactaaagt taaaacgtca caaaggtgct gcttttacag ggaagcttat
     1501 tctgttttaa acattgaaaa gttgtggtct gatcagttaa tttgtatgta gcagtgtatg
     1561 ctctcatata caattactga cctatgctct aaaacatgaa tgctttgtta cagacccaag
     1621 ctgtccattt ctgtgatggg ttttgaataa agtattccct gtcttaaatg aa
//
