LOCUS       NM_178014               2515 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tubulin beta class I (TUBB), transcript variant 2,
            mRNA.
ACCESSION   NM_178014
VERSION     NM_178014.4
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 2515)
  AUTHORS   Janakiraman,V., Sudhan,M., Alzahrani,K.J., Alshammeri,S.,
            Ahmed,S.S.S.J. and Patil,S.
  TITLE     Dynamics of TUBB protein with five majorly occurring natural
            variants: a risk of cortical dysplasia
  JOURNAL   J Mol Model 29 (4), 100 (2023)
   PUBMED   36928665
  REMARK    GeneRIF: Dynamics of TUBB protein with five majorly occurring
            natural variants: a risk of cortical dysplasia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2515)
  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   3  (bases 1 to 2515)
  AUTHORS   Watanabe,K., Nakashima,M., Kumada,S., Mashimo,H., Enokizono,M.,
            Yamada,K., Kato,M. and Saitsu,H.
  TITLE     Identification of two novel de novo TUBB variants in cases with
            brain malformations: case reports and literature review
  JOURNAL   J Hum Genet 66 (12), 1193-1197 (2021)
   PUBMED   34211110
  REMARK    GeneRIF: Identification of two novel de novo TUBB variants in cases
            with brain malformations: case reports and literature review.
            Review article
REFERENCE   4  (bases 1 to 2515)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2515)
  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   6  (bases 1 to 2515)
  AUTHORS   Yen,T.J., Machlin,P.S. and Cleveland,D.W.
  TITLE     Autoregulated instability of beta-tubulin mRNAs by recognition of
            the nascent amino terminus of beta-tubulin
  JOURNAL   Nature 334 (6183), 580-585 (1988)
   PUBMED   3405308
REFERENCE   7  (bases 1 to 2515)
  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   8  (bases 1 to 2515)
  AUTHORS   Floyd-Smith,G., De Martinville,B. and Francke,U.
  TITLE     An expressed beta-tubulin gene, TUBB, is located on the short arm
            of human chromosome 6 and two related sequences are dispersed on
            chromosomes 8 and 13
  JOURNAL   Exp Cell Res 163 (2), 539-548 (1986)
   PUBMED   3007184
REFERENCE   9  (bases 1 to 2515)
  AUTHORS   Hall,J.L., Dudley,L., Dobner,P.R., Lewis,S.A. and Cowan,N.J.
  TITLE     Identification of two human beta-tubulin isotypes
  JOURNAL   Mol Cell Biol 3 (5), 854-862 (1983)
   PUBMED   6865944
REFERENCE   10 (bases 1 to 2515)
  AUTHORS   Cowan,N.J., Wilde,C.D., Chow,L.T. and Wefald,F.C.
  TITLE     Structural variation among human beta-tubulin genes
  JOURNAL   Proc Natl Acad Sci U S A 78 (8), 4877-4881 (1981)
   PUBMED   6946435
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC366174.1 and BC013374.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_178014.3.
            
            Summary: This gene encodes a beta tubulin protein. This protein
            forms a dimer with alpha tubulin and acts as a structural component
            of microtubules. Mutations in this gene cause cortical dysplasia,
            complex, with other brain malformations 6. Alternative splicing
            results in multiple splice variants. There are multiple pseudogenes
            for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by
            RefSeq, Jun 2014].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (b) has a distinct N-terminus and is shorter than isoform a.
            
            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 :: SRR3476690.473215.1,
                                           SRR3476690.1052927.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327892.13/ ENSP00000339001.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                DC366174.1         135-162
            29-2515             BC013374.2         1-2487
FEATURES             Location/Qualifiers
     source          1..2515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2515
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /note="tubulin beta class I"
                     /db_xref="GeneID:203068"
                     /db_xref="HGNC:HGNC:20778"
                     /db_xref="MIM:191130"
     exon            1..212
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..1490
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /note="isoform b is encoded by transcript variant 2; beta
                     Ib tubulin; tubulin, beta polypeptide; tubulin beta-1
                     chain; tubulin beta-5 chain; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="tubulin beta chain isoform b"
                     /protein_id="NP_821133.1"
                     /db_xref="CCDS:CCDS4687.1"
                     /db_xref="GeneID:203068"
                     /db_xref="HGNC:HGNC:20778"
                     /db_xref="MIM:191130"
                     /translation="MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQL
                     DRISVYYNEATGGKYVPRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWA
                     KGHYTEGAELVDSVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYP
                     DRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLT
                     TPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSR
                     GSQQYRALTVPELTQQVFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLNVQ
                     NKNSSYFVEWIPNNVKTAVCDIPPRGLKMAVTFIGNSTAIQELFKRISEQFTAMFRRK
                     AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDFGEEAEEEA"
     exon            213..321
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /inference="alignment:Splign:2.1.0"
     exon            322..432
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /inference="alignment:Splign:2.1.0"
     exon            433..2515
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1651..1656
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /note="hexamer: AATAAA"
     polyA_site      1671
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /note="major polyA site"
     regulatory      2495..2500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
                     /note="hexamer: AATAAA"
     polyA_site      2515
                     /gene="TUBB"
                     /gene_synonym="CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1;
                     TUBB5"
ORIGIN      
        1 ctctcagaac cttcctgccg tcgcgtttgc acctcgctgc tccagcctct ggggcgcatt
       61 ccaaccttcc agcctgcgac ctgcggagaa aaaaaattac ttattttctt gccccataca
      121 taccttgagg cgagcaaaaa aattaaattt taaccatgag ggaaatcgtg cacatccagg
      181 ctggtcagtg tggcaaccag atcggtgcca agttctggga ggtgatcagt gatgaacatg
      241 gcatcgaccc caccggcacc taccacgggg acagcgacct gcagctggac cgcatctctg
      301 tgtactacaa tgaagccaca ggtggcaaat atgttcctcg tgccatcctg gtggatctag
      361 aacctgggac catggactct gttcgctcag gtccttttgg ccagatcttt agaccagaca
      421 actttgtatt tggtcagtct ggggcaggta acaactgggc caaaggccac tacacagagg
      481 gcgccgagct ggttgattct gtcctggatg tggtacggaa ggaggcagag agctgtgact
      541 gcctgcaggg cttccagctg acccactcac tgggcggggg cacaggctct ggaatgggca
      601 ctctccttat cagcaagatc cgagaagaat accctgatcg catcatgaat accttcagtg
      661 tggtgccttc acccaaagtg tctgacaccg tggtcgagcc ctacaatgcc accctctccg
      721 tccatcagtt ggtagagaat actgatgaga cctattgcat tgacaacgag gccctctatg
      781 atatctgctt ccgcactctg aagctgacca caccaaccta cggggatctg aaccaccttg
      841 tctcagccac catgagtggt gtcaccacct gcctccgttt ccctggccag ctcaatgctg
      901 acctccgcaa gttggcagtc aacatggtcc ccttcccacg tctccatttc tttatgcctg
      961 gctttgcccc tctcaccagc cgtggaagcc agcagtatcg agctctcaca gtgccggaac
     1021 tcacccagca ggtcttcgat gccaagaaca tgatggctgc ctgtgacccc cgccacggcc
     1081 gatacctcac cgtggctgct gtcttccgtg gtcggatgtc catgaaggag gtcgatgagc
     1141 agatgcttaa cgtgcagaac aagaacagca gctactttgt ggaatggatc cccaacaatg
     1201 tcaagacagc cgtctgtgac atcccacctc gtggcctcaa gatggcagtc accttcattg
     1261 gcaatagcac agccatccag gagctcttca agcgcatctc ggagcagttc actgccatgt
     1321 tccgccggaa ggccttcctc cactggtaca caggcgaggg catggacgag atggagttca
     1381 ccgaggctga gagcaacatg aacgacctcg tctctgagta tcagcagtac caggatgcca
     1441 ccgcagaaga ggaggaggat ttcggtgagg aggccgaaga ggaggcctaa ggcagagccc
     1501 ccatcacctc aggcttctca gttcccttag ccgtcttact caactgcccc tttcctctcc
     1561 ctcagaattt gtgtttgctg cctctatctt gttttttgtt ttttcttctg gggggggtct
     1621 agaacagtgc ctggcacata gtaggcgctc aataaatact tgtttgttga atgtctcctc
     1681 tctctttcca ctctgggaaa cctaggtttc tgccattctg ggtgaccctg tatttctttc
     1741 tggtgcccat tccatttgtc cagttaatac ttcctcttaa aaatctccaa gaagctgggt
     1801 ctccagatcc catttagaac caaccaggtg ctgaaaacac atgtagataa tggccatcat
     1861 cctaagccca aagtagaaaa tggtagaagg tagtgggtag aagtcactat ataaggaagg
     1921 ggatgggatt ttccattcta aaagttttgg agagggaaat ccaggctatt aaagtcacta
     1981 aatttctaag tatgtccatt tcccatctca gcttcaaggg aggtgtcagc agtattatct
     2041 ccactttcaa tctccctcca agctctactc tggaggagtc tgtcccactc tgtcaagtgg
     2101 aatccttccc tttccaactc tacctccctc actcagctcc tttcccctga tcagagaaag
     2161 ggatcaaggg ggttgggagg ggggaaagag accagccttg gtccctaagc ctccagaaac
     2221 gtcttcttaa tccccacctt ttcttactcc caaaaaagaa tgaacacccc tgactctgga
     2281 gtggtgtata ctgccacatc agtgtttgag tcagtcccca gaggagaggg gaaccctcct
     2341 ccatcttttt tgcaacatct catttcttcc ttttgctgtt gcttcccccc tcacacactt
     2401 ggttttgttc tatcctacat ttgagatttc tattttatgt tgaacttgct gctttttttc
     2461 atattgaaaa gatgacatcg ccccaagagc caaaaataaa tgggaattga aaaaa
//
