LOCUS       NM_006087               2277 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tubulin beta 4A class IVa (TUBB4A), transcript variant
            3, mRNA.
ACCESSION   NM_006087
VERSION     NM_006087.4
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 2277)
  AUTHORS   Garg,D., Holla,V.V., Ganguly,J., Rajan,R., Saini,A., Agarwal,A.,
            Radhakrishnan,D.M., Basu,P., Mondal,B., Dhar,D., Kamble,N.,
            Yadav,R., Muthusamy,B., Kumar,H., Srivastava,A.K. and Pal,P.K.
  TITLE     Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with
            seven patients from India
  JOURNAL   Parkinsonism Relat Disord 124, 107012 (2024)
   PUBMED   38762926
  REMARK    GeneRIF: Expanding the phenotypic and genotypic spectrum of
            DYT-TUBB4A with seven patients from India.
REFERENCE   2  (bases 1 to 2277)
  AUTHORS   Ben Jdila,M., Kammoun,F., Abdelmaksoud-Dammak,R., Triki,C. and
            Fakhfakh,F.
  TITLE     Mutation in the beta-tubulin gene TUBB4A results in epileptic
            encephalopathy associated with hypomyelinated leucodystrophy:
            Unexpected findings reveal genetic mosaicism
  JOURNAL   Int J Dev Neurosci 83 (6), 532-545 (2023)
   PUBMED   37529938
  REMARK    GeneRIF: Mutation in the beta-tubulin gene TUBB4A results in
            epileptic encephalopathy associated with hypomyelinated
            leucodystrophy: Unexpected findings reveal genetic mosaicism.
REFERENCE   3  (bases 1 to 2277)
  AUTHORS   Ying,Z., Cheng,X., Xu,X., Ma,Z., Chen,Z., Chen,W., Qin,L. and
            Niu,Q.
  TITLE     [Analysis of TUBB4A gene variant in a patient with adolescent-onset
            hypomyelinating leukodystrophy with atrophy of basal ganglia and
            cerebellum]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (4), 390-394 (2023)
   PUBMED   36972930
  REMARK    GeneRIF: [Analysis of TUBB4A gene variant in a patient with
            adolescent-onset hypomyelinating leukodystrophy with atrophy of
            basal ganglia and cerebellum].
REFERENCE   4  (bases 1 to 2277)
  AUTHORS   Simons,C., Wolf,N.I., McNeil,N., Caldovic,L., Devaney,J.M.,
            Takanohashi,A., Crawford,J., Ru,K., Grimmond,S.M., Miller,D.,
            Tonduti,D., Schmidt,J.L., Chudnow,R.S., van Coster,R., Lagae,L.,
            Kisler,J., Sperner,J., van der Knaap,M.S., Schiffmann,R., Taft,R.J.
            and Vanderver,A.
  TITLE     A de novo mutation in the beta-tubulin gene TUBB4A results in the
            leukoencephalopathy hypomyelination with atrophy of the basal
            ganglia and cerebellum
  JOURNAL   Am J Hum Genet 92 (5), 767-773 (2013)
   PUBMED   23582646
  REMARK    GeneRIF: A de novo mutation in the beta-tubulin gene TUBB4A results
            in the leukoencephalopathy hypomyelination with atrophy of the
            basal ganglia and cerebellum.
REFERENCE   5  (bases 1 to 2277)
  AUTHORS   Hersheson,J., Mencacci,N.E., Davis,M., MacDonald,N., Trabzuni,D.,
            Ryten,M., Pittman,A., Paudel,R., Kara,E., Fawcett,K., Plagnol,V.,
            Bhatia,K.P., Medlar,A.J., Stanescu,H.C., Hardy,J., Kleta,R.,
            Wood,N.W. and Houlden,H.
  TITLE     Mutations in the autoregulatory domain of beta-tubulin 4a cause
            hereditary dystonia
  JOURNAL   Ann Neurol 73 (4), 546-553 (2013)
   PUBMED   23424103
  REMARK    GeneRIF: This study demonistrated that TUBB4A mutation in the
            autoregulatory domain cause hereditary dystonia.
REFERENCE   6  (bases 1 to 2277)
  AUTHORS   Nahhas,N., Conant,A., Hamilton,E., Curiel,J., Simons,C., van der
            Knaap,M. and Vanderver,A.
  TITLE     TUBB4A-Related Leukodystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27809427
REFERENCE   7  (bases 1 to 2277)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   8  (bases 1 to 2277)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   9  (bases 1 to 2277)
  AUTHORS   Wang,D., Villasante,A., Lewis,S.A. and Cowan,N.J.
  TITLE     The mammalian beta-tubulin repertoire: hematopoietic expression of
            a novel, heterologous beta-tubulin isotype
  JOURNAL   J Cell Biol 103 (5), 1903-1910 (1986)
   PUBMED   3782288
REFERENCE   10 (bases 1 to 2277)
  AUTHORS   Lee,M.G., Loomis,C. and Cowan,N.J.
  TITLE     Sequence of an expressed human beta-tubulin gene containing ten Alu
            family members
  JOURNAL   Nucleic Acids Res 12 (14), 5823-5836 (1984)
   PUBMED   6462917
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC013683.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006087.3.
            
            Summary: This gene encodes a member of the beta tubulin family.
            Beta tubulins are one of two core protein families (alpha and beta
            tubulins) that heterodimerize and assemble to form microtubules.
            Mutations in this gene cause hypomyelinating leukodystrophy-6 and
            autosomal dominant torsion dystonia-4. Alternate splicing results
            in multiple transcript variants encoding different isoforms. A
            pseudogene of this gene is found on chromosome X. [provided by
            RefSeq, Jan 2014].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks a portion of the 5' coding region, compared to variant 1. The
            resulting isoform (3) has a shorter N-terminus, compared to isoform
            1. Both variants 3 and 4 encode the same isoform 3.
            
            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 :: BC013683.1, AK075307.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267753 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264071.7/ ENSP00000264071.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2277              BC013683.1         11-2287
FEATURES             Location/Qualifiers
     source          1..2277
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2277
                     /gene="TUBB4A"
                     /gene_synonym="beta-5; DYT4; TUBB4"
                     /note="tubulin beta 4A class IVa"
                     /db_xref="GeneID:10382"
                     /db_xref="HGNC:HGNC:20774"
                     /db_xref="MIM:602662"
     exon            1..154
                     /gene="TUBB4A"
                     /gene_synonym="beta-5; DYT4; TUBB4"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1432
                     /gene="TUBB4A"
                     /gene_synonym="beta-5; DYT4; TUBB4"
                     /note="isoform 3 is encoded by transcript variant 3;
                     tubulin, beta, 5; dystonia 4, torsion (autosomal
                     dominant); tubulin beta-4 chain; tubulin, beta 4"
                     /codon_start=1
                     /product="tubulin beta-4A chain isoform 3"
                     /protein_id="NP_006078.2"
                     /db_xref="CCDS:CCDS12168.1"
                     /db_xref="GeneID:10382"
                     /db_xref="HGNC:HGNC:20774"
                     /db_xref="MIM:602662"
                     /translation="MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQL
                     ERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWA
                     KGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFP
                     DRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLT
                     TPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSR
                     GSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQ
                     SKNSSYFVEWIPNNVKTAVCDIPPRGLKMAATFIGNSTAIQELFKRISEQFTAMFRRK
                     AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA"
     exon            155..263
                     /gene="TUBB4A"
                     /gene_synonym="beta-5; DYT4; TUBB4"
                     /inference="alignment:Splign:2.1.0"
     exon            264..374
                     /gene="TUBB4A"
                     /gene_synonym="beta-5; DYT4; TUBB4"
                     /inference="alignment:Splign:2.1.0"
     exon            375..2277
                     /gene="TUBB4A"
                     /gene_synonym="beta-5; DYT4; TUBB4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2255..2260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBB4A"
                     /gene_synonym="beta-5; DYT4; TUBB4"
                     /note="hexamer: AATAAA"
     polyA_site      2277
                     /gene="TUBB4A"
                     /gene_synonym="beta-5; DYT4; TUBB4"
                     /note="major polyA site"
ORIGIN      
        1 gtgctccgcc gtctccgccg catcttccac cctcgccgcc gccgcagctc cccgcgctcg
       61 tgccaccgcc gccgcgtcca ccctcagcgc caccgccatg cgggagatcg tgcacctgca
      121 ggccggccag tgcggcaacc agatcggggc caagttttgg gaggttatca gtgacgaaca
      181 tggcatcgac cccacaggca cataccatgg ggacagtgac ctgcaactgg agaggatcaa
      241 cgtgtactac aacgaggcca caggaggaaa ttatgtcccc agagcggtgc tggtggacct
      301 ggaacccggc accatggact ctgtccgttc tggccccttc ggtcagatct ttcggccgga
      361 caacttcgtg tttggccaat ccggagccgg caacaactgg gcaaaggggc actacacgga
      421 gggcgcagag ctggtggacg ctgtcctgga cgtagtccgg aaggaggccg agagctgcga
      481 ctgccttcag ggcttccagc tgacccactc gctggggggt ggcacggggt ccggaatggg
      541 cacgctgctc atcagtaaga tccgcgagga gttcccagac cgcatcatga acaccttcag
      601 cgtggtgccc tcgcccaaag tgtcagacac ggtggtggag ccctacaacg ccacgctgtc
      661 tgtgcaccag ctggtggaga atacggatga gacctactgc atcgacaacg aggcactcta
      721 cgacatctgt ttccgcaccc tcaagctgac cacccccacc tacggggacc tcaaccacct
      781 ggtgtcggcc accatgagcg gggtcaccac ctgcctgcgc ttcccgggcc agctgaacgc
      841 cgacctgcgc aagctggccg tcaacatggt tccctttcct cgcctgcact tcttcatgcc
      901 cggcttcgca cccctgacca gccggggcag ccagcagtac cgggccctga cggtgcccga
      961 gctcacccag cagatgttcg atgccaagaa catgatggcg gcgtgcgacc cgcgccacgg
     1021 ccgctacctg accgtggccg ccgtgttccg gggccgcatg tccatgaagg aggtggacga
     1081 gcagatgctg agcgtgcaga gcaagaacag cagctacttc gtggagtgga tccccaacaa
     1141 cgtgaagacg gccgtgtgcg acatcccgcc ccgcggcctg aagatggccg cgaccttcat
     1201 cggcaacagc acggccatcc aggagctgtt caagcgcatc tccgagcagt tcacggccat
     1261 gttccggcgc aaggccttct tgcactggta cacgggcgag ggcatggacg agatggagtt
     1321 caccgaggcc gagagcaaca tgaatgacct ggtatctgag taccagcagt accaggacgc
     1381 cacggccgag gagggcgagt tcgaggagga ggcggaggag gaggtggcct aggctgctcc
     1441 catcgcttcc cacctgtccc ctcgaggctt ctgacctttg atccgctagg ccccccatct
     1501 ctgaacccta gagccccgct ttccctccaa ggctgactcc ccgctgaccc taacaatacc
     1561 tttggagctc gctttacctc tggctacttc atctccgacc ctggctcccc tttgagccct
     1621 aatttatctt taaccccctt gagctcttcc aaccttgaca ttcccaggag gagccccgct
     1681 tcaccccttc tgactctgga aaccgcacct ttaactttgc agaccttcct tcacccctga
     1741 cttctgcttc acctttgacc tctgcccccc atgaatccca ttttacctct agacctataa
     1801 gttctggttt atgtttgacc cctccctctg agctgcactt caccgctgac cttgcctcac
     1861 ctttaacccc ccacctgagc cccagctcct acctctgacc ccaacttctc tttgatctct
     1921 gaatcccctc tgactccaac ttctctttca ccctctatga gtcccatttt acttctacac
     1981 ctgcaagtcc tggtttatat tggacccctc cctccgagct gcagttcacc tttgaccttg
     2041 cctcaccttt caccccccac cccccacagc gtcagctcct acctctgacc ccagcttctc
     2101 tctgattccc acaggcccca tgcatcctcc ctgcctcact cccctcagcc cctgccgacc
     2161 ttagcttatc tgggagagaa acaaggcctg gtgcctgtga ggaagagagg tcacccctac
     2221 cctccctccc cgcttccctg cctcaccctc aataaataaa ttaattgttg tcatgga
//
