LOCUS       NM_030773               3321 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens tubulin beta 1 class VI (TUBB1), mRNA.
ACCESSION   NM_030773
VERSION     NM_030773.4
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 3321)
  AUTHORS   Wang,J., Gong,M., Xiong,Z., Zhao,Y. and Xing,D.
  TITLE     ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and
            Predicts Prognosis in Osteosarcoma
  JOURNAL   Comb Chem High Throughput Screen 26 (1), 135-148 (2023)
   PUBMED   35388751
  REMARK    GeneRIF: ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune
            Cells and Predicts Prognosis in Osteosarcoma.
REFERENCE   2  (bases 1 to 3321)
  AUTHORS   Palma-Barqueros,V., Bury,L., Kunishima,S., Lozano,M.L.,
            Rodriguez-Alen,A., Revilla,N., Bohdan,N., Padilla,J.,
            Fernandez-Perez,M.P., de la Morena-Barrio,M.E., Marin-Quilez,A.,
            Benito,R., Lopez-Fernandez,M.F., Marcellini,S., Zamora-Canovas,A.,
            Vicente,V., Martinez,C., Gresele,P., Bastida,J.M. and Rivera,J.
  TITLE     Expanding the genetic spectrum of TUBB1-related thrombocytopenia
  JOURNAL   Blood Adv 5 (24), 5453-5467 (2021)
   PUBMED   34516618
  REMARK    GeneRIF: Expanding the genetic spectrum of TUBB1-related
            thrombocytopenia.
            Erratum:[Blood Adv. 2023 Mar 28;7(6):877. doi:
            10.1182/bloodadvances.2022007189.. PMID: 36920438]
REFERENCE   3  (bases 1 to 3321)
  AUTHORS   Hou,Y., Shao,L., Zhou,H., Liu,Y., Fisk,D.G., Spiteri,E.,
            Zehnder,J.L., Peng,J., Zhang,B.M. and Hou,M.
  TITLE     Identification of a pathogenic TUBB1 variant in a Chinese family
            with congenital macrothrombocytopenia through whole genome
            sequencing
  JOURNAL   Platelets 32 (8), 1108-1112 (2021)
   PUBMED   33400601
  REMARK    GeneRIF: Identification of a pathogenic TUBB1 variant in a Chinese
            family with congenital macrothrombocytopenia through whole genome
            sequencing.
REFERENCE   4  (bases 1 to 3321)
  AUTHORS   Caliskaner,Z.O., Abdul Waheed,A., Tuzlakoglu Ozturk,M., Oymak,Y.,
            Tazebay,U.H., Akar,N., Kandilci,A. and Torun Ozkan,D.
  TITLE     Identification of novel TUBB1 variants in patients with
            macrothrombocytopenia
  JOURNAL   Turk J Med Sci 51 (2), 490-500 (2021)
   PUBMED   32892537
  REMARK    GeneRIF: Identification of novel TUBB1 variants in patients with
            macrothrombocytopenia.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3321)
  AUTHORS   Liu,C.X., Yin,R.X., Shi,Z.H., Zheng,P.F., Deng,G.X., Guan,Y.Z. and
            Wei,B.L.
  TITLE     Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene,
            and gene-environment interactions and dyslipidemia
  JOURNAL   Aging (Albany NY) 13 (4), 5906-5927 (2021)
   PUBMED   33612478
  REMARK    GeneRIF: Associations between TUBB-WWOX SNPs, their haplotypes,
            gene-gene, and gene-environment interactions and dyslipidemia.
REFERENCE   6  (bases 1 to 3321)
  AUTHORS   Luchko,T., Huzil,J.T., Stepanova,M. and Tuszynski,J.
  TITLE     Conformational analysis of the carboxy-terminal tails of human
            beta-tubulin isotypes
  JOURNAL   Biophys J 94 (6), 1971-1982 (2008)
   PUBMED   17993481
  REMARK    GeneRIF: biophysical analysis of carboxy-terminal tail conformation
            of human beta-tubulin isotypes
REFERENCE   7  (bases 1 to 3321)
  AUTHORS   Navarro-Nunez,L., Lozano,M.L., Rivera,J., Corral,J., Roldan,V.,
            Gonzalez-Conejero,R., Iniesta,J.A., Montaner,J., Vicente,V. and
            Martinez,C.
  TITLE     The association of the beta1-tubulin Q43P polymorphism with
            intracerebral hemorrhage in men
  JOURNAL   Haematologica 92 (4), 513-518 (2007)
   PUBMED   17488662
  REMARK    GeneRIF: The TUBB1 Q43P polymorphism, by causing a lower reactivity
            in platelets carrying the variant form of b1-tubulin, protects
            against thrombotic disorders but increases the risk of
            intracerebral hemorrhage in men.
REFERENCE   8  (bases 1 to 3321)
  AUTHORS   Freson,K., De Vos,R., Wittevrongel,C., Thys,C., Defoor,J.,
            Vanhees,L., Vermylen,J., Peerlinck,K. and Van Geet,C.
  TITLE     The TUBB1 Q43P functional polymorphism reduces the risk of
            cardiovascular disease in men by modulating platelet function and
            structure
  JOURNAL   Blood 106 (7), 2356-2362 (2005)
   PUBMED   15956286
  REMARK    GeneRIF: the platelet Q43P beta1-tubulin substitution is frequent
            in the healthy population and may protect men against arterial
            thrombosis
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3321)
  AUTHORS   Schulze,H., Korpal,M., Bergmeier,W., Italiano,J.E. Jr., Wahl,S.M.
            and Shivdasani,R.A.
  TITLE     Interactions between the megakaryocyte/platelet-specific beta1
            tubulin and the secretory leukocyte protease inhibitor SLPI suggest
            a role for regulated proteolysis in platelet functions
  JOURNAL   Blood 104 (13), 3949-3957 (2004)
   PUBMED   15315966
  REMARK    GeneRIF: SLPI localizes in part along the megakaaryocyte and
            platelet cytoskeleton by virtue of specific interactions with beta1
            tubulin.
REFERENCE   10 (bases 1 to 3321)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ292757.1 and AL109840.24.
            
            On Aug 31, 2019 this sequence version replaced NM_030773.3.
            
            Summary: This gene encodes a member of the beta tubulin protein
            family. Beta tubulins are one of two core protein families (alpha
            and beta tubulins) that heterodimerize and assemble to form
            microtubules. This protein is specifically expressed in platelets
            and megakaryocytes and may be involved in proplatelet production
            and platelet release. A mutations in this gene is associated with
            autosomal dominant macrothrombocytopenia. Two pseudogenes of this
            gene are found on chromosome Y.[provided by RefSeq, Jul 2010].
            
            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 :: AJ292757.1, BC033679.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217133.2/ ENSP00000217133.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-627               AJ292757.1         176-802
            628-628             AL109840.24        121388-121388
            629-2509            AJ292757.1         804-2684
            2510-2510           AL109840.24        123270-123270
            2511-3321           AJ292757.1         2685-3495
FEATURES             Location/Qualifiers
     source          1..3321
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.32"
     gene            1..3321
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /note="tubulin beta 1 class VI"
                     /db_xref="GeneID:81027"
                     /db_xref="HGNC:HGNC:16257"
                     /db_xref="MIM:612901"
     exon            1..151
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..1450
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /note="tubulin, beta 1"
                     /codon_start=1
                     /product="tubulin beta-1 chain"
                     /protein_id="NP_110400.1"
                     /db_xref="CCDS:CCDS13475.1"
                     /db_xref="GeneID:81027"
                     /db_xref="HGNC:HGNC:16257"
                     /db_xref="MIM:612901"
                     /translation="MREIVHIQIGQCGNQIGAKFWEMIGEEHGIDLAGSDRGASALQL
                     ERISVYYNEAYGRKYVPRAVLVDLEPGTMDSIRSSKLGALFQPDSFVHGNSGAGNNWA
                     KGHYTEGAELIENVLEVVRHESESCDCLQGFQIVHSLGGGTGSGMGTLLMNKIREEYP
                     DRIMNSFSVMPSPKVSDTVVEPYNAVLSIHQLIENADACFCIDNEALYDICFRTLKLT
                     TPTYGDLNHLVSLTMSGITTSLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTAQ
                     GSQQYRALSVAELTQQMFDARNTMAACDLRRGRYLTVACIFRGKMSTKEVDQQLLSVQ
                     TRNSSCFVEWIPNNVKVAVCDIPPRGLSMAATFIGNNTAIQEIFNRVSEHFSAMFKRK
                     AFVHWYTSEGMDINEFGEAENNIHDLVSEYQQFQDAKAVLEEDEEVTEEAEMEPEDKG
                     H"
     exon            152..260
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            261..371
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            372..3321
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3241..3246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /note="hexamer: ATTAAA"
     polyA_site      3269
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /note="major polyA site"
     regulatory      3296..3301
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
                     /note="hexamer: AATAAA"
     polyA_site      3321
                     /gene="TUBB1"
                     /gene_synonym="MACTHC1"
ORIGIN      
        1 acagttgtgt tgggctcaca ccagtgaacc gaagctctgg attctgagag tctgaggatt
       61 ccgtgaagat ctcagacttg ggctcagagc aaggatgcgt gaaattgtcc atattcagat
      121 tggccagtgt ggcaaccaga tcggagccaa gttctgggag atgattggtg aggaacacgg
      181 gatcgacttg gctgggagcg accgcggggc ctcggccttg cagctggaga gaatcagcgt
      241 gtactacaac gaagcctacg gtaggaaata tgtgccccga gcagtcttgg tggacctaga
      301 acctgggacg atggacagca ttcgatctag caaattagga gctctctttc aacccgacag
      361 ttttgtccat ggtaactctg gggctggcaa caactgggcc aaaggccact acacggaggg
      421 agccgagctg atcgagaatg tcctagaggt ggtgaggcac gagagtgaga gctgtgactg
      481 cctgcagggc ttccagatcg tccactccct gggcgggggc acaggctccg ggatgggcac
      541 tctgctcatg aacaagatta gagaggagta cccggaccgg atcatgaatt ccttcagcgt
      601 catgccttct cccaaggtgt cggacactgt ggtggagccc tacaacgcgg ttctgtctat
      661 ccaccagctg attgagaatg cagatgcctg tttctgcatt gacaatgagg ccctctatga
      721 catctgcttc cgtaccctga agctgacgac acccacctat ggggatctca accacctagt
      781 gtccttgacc atgagcggca taaccacctc cctccggttc ccgggtcagc tcaacgcaga
      841 cctgcgcaag ctggcggtga acatggtccc cttcccccgc ctgcacttct ttatgcccgg
      901 ctttgcccca ctcacggccc agggcagcca gcagtaccga gccctctccg tggccgagct
      961 cacccagcag atgttcgatg cccgcaatac catggctgcc tgtgacctcc gccgtggccg
     1021 ctacctcaca gtggcctgca ttttccgggg caagatgtcc accaaggaag tggaccagca
     1081 actgctctcc gtgcagacca ggaacagcag ctgctttgtg gagtggattc ccaacaacgt
     1141 caaggtggct gtctgcgaca tcccgccccg ggggctgagc atggccgcca ccttcattgg
     1201 caacaacacg gccatccaag agatctttaa tagggtctct gagcatttct cagccatgtt
     1261 caaaaggaaa gcttttgtgc actggtacac cagcgaaggg atggacataa acgaatttgg
     1321 ggaagctgaa aataacatcc atgatttggt atccgagtac caacaatttc aagatgccaa
     1381 agcagttcta gaggaagatg aagaggtcac ggaggaggca gaaatggagc cagaagataa
     1441 gggacattaa ctgtgagaga agctgtgccg cggagtcgct tacagaacag tttctcatta
     1501 gatgagtgtt tctcctgcag cactccaaaa cccactctgc actgcagcac agtgaatgat
     1561 atgcactcac cattagcttc gacacaggga ctgagggaga caggtgggga gcagctgaca
     1621 ggcattaggg tctttgctga catctactaa ccttgaagag tttgatgttc agtgcatact
     1681 tattaactta aaaaaatagc aaatttattg taaagtgctc cctttgtttc aaagtgtttg
     1741 ccaggcatcc agactacacg tgtggatttg cagggagcca ctggagttgg tgttacattt
     1801 ttatacttta gcagcactga taggcaccct ggaatcctca cttggtatcc gagggctact
     1861 aagactcttt ccttaggttc tttcctctga gcaaacactg actggcatcc tgctttccag
     1921 tgcctgccag cctccagaag agccaggtgc ctgactagta catggggagc tacagagcca
     1981 aggtcaatgt gagtcaacat ccactagaaa tatccatgtt gtgtagacct gtgcatacaa
     2041 catgctaact ggaaaagagg aaaaaagaaa agccacagtc ctctccacaa aaatacctgg
     2101 tccaaacaag aaaaacaaaa agacaagcaa aactaaagaa ctgcagtctt ctgatcttta
     2161 tttctgaaga gctagccttt aacatatatg tttatatagt ttaaatttct tactactgtt
     2221 agatcccagg aattcattaa taatcatcct tggctttcct tttaaaggct attttgaaat
     2281 ggtcttttca ctttcattca gtcatcaccc cccaaaatgc tctgcagcct ctctgctctt
     2341 tgagaaaggg cacaccatgc gctcggcaac cattcaaatg caggaattaa gcagcaatgg
     2401 ctgcagtgtc cttctcagtt atggaggaca tcgtctcatt agggaacttt tacagttcaa
     2461 attaatttgc agaagttgcc ataaatgttt gcataatgac atagctttaa gcactacatg
     2521 attttaatct gctcacatta taacaggacc aaatacacaa gagcgtaatc aaatcatctg
     2581 taacttctta attacagttt acctatttct gacatgcagc actgccatct cttccagcac
     2641 catcagggtt ttaatggccc tctagaatta ccactgagat acactatttg atccatggat
     2701 aaccggtaat gggaaaatgc tccgaccctc aatgcagtaa atatttactt gcaggcaact
     2761 gggttctcat ctcttgattt gcttttgtaa tcagcaataa taaaatagca ggtagatgga
     2821 tgacagttgc tcattctgag aaacttcact cttttcactt atgcatcacg aggaaataac
     2881 taaaatacat accaagagaa aaataccttg ccatcggatc atcaacaagt cttctattta
     2941 caaacttcaa aaaacacaaa acaacattca tgttttaaat gctttctact tgtggttcaa
     3001 gaagcactag atttagtaag aaactctacc tatatactta gtttgaagtt agtaacttcc
     3061 tgagatgcta aagacttaca gcctgcgatt atacaaggat ttacacatgc ttcctctggt
     3121 gctttacttc ccaaacctaa aaaagcaatg aaatagatgt aaggaaggag ggatttaaac
     3181 cttttaaaaa acttttgctg acttatatta ctgtaaagat ttgtttgctc aatagtaatc
     3241 attaaactac aaagtaattc aattttaaat ggcaaaattg ctttatttca gactaaataa
     3301 attccttttc ttgaagccta a
//
