LOCUS       NM_018943               2003 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tubulin alpha 8 (TUBA8), transcript variant 1, mRNA.
ACCESSION   NM_018943
VERSION     NM_018943.3
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 2003)
  AUTHORS   Jiang,J., Zhan,X., Liang,T., Chen,L., Huang,S., Sun,X., Jiang,W.,
            Chen,J., Chen,T., Li,H., Yao,Y., Wu,S., Zhu,J. and Liu,C.
  TITLE     Dysregulation of SAA1, TUBA8 and Monocytes Are Key Factors in
            Ankylosing Spondylitis With Femoral Head Necrosis
  JOURNAL   Front Immunol 12, 814278 (2022)
   PUBMED   35126370
  REMARK    GeneRIF: Dysregulation of SAA1, TUBA8 and Monocytes Are Key Factors
            in Ankylosing Spondylitis With Femoral Head Necrosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2003)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2003)
  AUTHORS   Dantas,A.G., Santoro,M.L., Nunes,N., de Mello,C.B., Pimenta,L.S.E.,
            Meloni,V.A., Soares,D.C.Q., Belangero,S.N., Carvalheira,G.,
            Kim,C.A. and Melaragno,M.I.
  TITLE     Downregulation of genes outside the deleted region in individuals
            with 22q11.2 deletion syndrome
  JOURNAL   Hum Genet 138 (1), 93-103 (2019)
   PUBMED   30627818
  REMARK    GeneRIF: Low TUBA8 expression is associated with 22q11.2 deletion
            syndrome.
REFERENCE   4  (bases 1 to 2003)
  AUTHORS   Rein-Fischboeck,L., Pohl,R., Haberl,E.M., Zimny,S., Neumann,M.,
            Eisinger,K., Weiss,T.S., Krautbauer,S. and Buechler,C.
  TITLE     Tubulin alpha 8 is expressed in hepatic stellate cells and is
            induced in transformed hepatocytes
  JOURNAL   Mol Cell Biochem 428 (1-2), 161-170 (2017)
   PUBMED   28063004
  REMARK    GeneRIF: Data provide evidence for a role of TUBA8 in hepatic
            fibrogenesis and malignancies making it a novel player in
            non-alcoholic steatohepatitis and hepatocellular carcinoma
            pathology.
REFERENCE   5  (bases 1 to 2003)
  AUTHORS   Abdollahi,M.R., Morrison,E., Sirey,T., Molnar,Z., Hayward,B.E.,
            Carr,I.M., Springell,K., Woods,C.G., Ahmed,M., Hattingh,L.,
            Corry,P., Pilz,D.T., Stoodley,N., Crow,Y., Taylor,G.R.,
            Bonthron,D.T. and Sheridan,E.
  TITLE     Mutation of the variant alpha-tubulin TUBA8 results in
            polymicrogyria with optic nerve hypoplasia
  JOURNAL   Am J Hum Genet 85 (5), 737-744 (2009)
   PUBMED   19896110
  REMARK    GeneRIF: Mutation of the variant alpha-tubulin TUBA8 results in
            polymicrogyria with optic nerve hypoplasia.
REFERENCE   6  (bases 1 to 2003)
  AUTHORS   Germani,A., Bruzzoni-Giovanelli,H., Fellous,A., Gisselbrecht,S.,
            Varin-Blank,N. and Calvo,F.
  TITLE     SIAH-1 interacts with alpha-tubulin and degrades the kinesin Kid by
            the proteasome pathway during mitosis
  JOURNAL   Oncogene 19 (52), 5997-6006 (2000)
   PUBMED   11146551
REFERENCE   7  (bases 1 to 2003)
  AUTHORS   Stanchi,F., Corso,V., Scannapieco,P., Ievolella,C., Negrisolo,E.,
            Tiso,N., Lanfranchi,G. and Valle,G.
  TITLE     TUBA8: A new tissue-specific isoform of alpha-tubulin that is
            highly conserved in human and mouse
  JOURNAL   Biochem Biophys Res Commun 270 (3), 1111-1118 (2000)
   PUBMED   10772959
REFERENCE   8  (bases 1 to 2003)
  AUTHORS   Feierbach,B., Nogales,E., Downing,K.H. and Stearns,T.
  TITLE     Alf1p, a CLIP-170 domain-containing protein, is functionally and
            physically associated with alpha-tubulin
  JOURNAL   J Cell Biol 144 (1), 113-124 (1999)
   PUBMED   9885248
REFERENCE   9  (bases 1 to 2003)
  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   10 (bases 1 to 2003)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA059342.1, AJ245922.1 and
            AC008079.24.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018943.2.
            
            Summary: This gene encodes a member of the alpha tubulin protein
            family. Alpha tubulins are one of two core protein families (alpha
            and beta tubulins) that heterodimerize and assemble to form
            microtubules. Mutations in this gene are associated with
            polymicrogyria and optic nerve hypoplasia. Alternate splicing
            results in multiple transcript variants. [provided by RefSeq, Jul
            2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR3476690.72726.1,
                                           SRR1660807.174197.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330423.8/ ENSP00000333326.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                DA059342.1         124-164
            42-1908             AJ245922.1         58-1924
            1909-1909           AC008079.24        62611-62611
            1910-2002           AJ245922.1         1926-2018
            2003-2003           AC008079.24        62705-62705
FEATURES             Location/Qualifiers
     source          1..2003
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2003
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /note="tubulin alpha 8"
                     /db_xref="GeneID:51807"
                     /db_xref="HGNC:HGNC:12410"
                     /db_xref="MIM:605742"
     exon            1..60
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..1407
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tubulin alpha chain-like 2; tubulin alpha 8 trucated form"
                     /codon_start=1
                     /product="tubulin alpha-8 chain isoform 1"
                     /protein_id="NP_061816.1"
                     /db_xref="CCDS:CCDS13751.1"
                     /db_xref="GeneID:51807"
                     /db_xref="HGNC:HGNC:12410"
                     /db_xref="MIM:605742"
                     /translation="MRECISVHVGQAGVQIGNACWELFCLEHGIQADGTFDAQASKIN
                     DDDSFTTFFSETGNGKHVPRAVMIDLEPTVVDEVRAGTYRQLFHPEQLITGKEDAANN
                     YARGHYTVGKESIDLVLDRIRKLTDACSGLQGFLIFHSFGGGTGSGFTSLLMERLSLD
                     YGKKSKLEFAIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLD
                     IERPTYTNLNRLISQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLVTYAPII
                     SAEKAYHEQLSVAEITSSCFEPNSQMVKCDPRHGKYMACCMLYRGDVVPKDVNVAIAA
                     IKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLD
                     HKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDLAALEKDYEEVGTDSFEEENEGEEF"
     exon            61..283
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            284..432
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            433..1113
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..2003
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1407..1412
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /note="hexamer: AATATA"
     polyA_site      1425
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /note="major polyA site"
     regulatory      1980..1985
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
                     /note="hexamer: AATAAA"
     polyA_site      2003
                     /gene="TUBA8"
                     /gene_synonym="CDCBM8; MACTHC2; TUBAL2"
ORIGIN      
        1 agcagtcggg gcgggcaggc ccagctgaga ggtgcgcggg cgaggacagc ggcagcgatg
       61 cgggaatgca tatcagtcca cgtgggccaa gcgggagttc agattggcaa tgcctgctgg
      121 gagctcttct gcctggaaca cggcatccag gcagacggca cttttgatgc tcaagctagc
      181 aagatcaacg atgatgactc cttcaccacc tttttcagcg agactggcaa tgggaagcat
      241 gtgccccggg ccgtcatgat agatctggag cctactgtag tggatgaggt tcgggcagga
      301 acctaccgcc agctcttcca tccagagcag ctgatcacag gaaaggagga tgcagccaac
      361 aactatgccc ggggccacta cacggtgggc aaggagagca ttgacctggt gctggaccgc
      421 atacggaagc tgacagatgc ttgctctggc ctgcagggct tcctgatttt ccacagtttt
      481 ggtgggggca ctggctccgg cttcacttct ctgctgatgg aacgcctctc cctggattat
      541 ggcaagaaat ccaagctgga gtttgccatc tacccagccc cccaggtctc tactgcagtg
      601 gtggagccct acaactccat cctgaccacc cacaccacac tggaacattc agattgtgct
      661 ttcatggtgg acaacgaagc catctatgac atctgccgca ggaaccttga cattgagcgc
      721 cctacctata ccaacctcaa ccgcctcatc agtcagattg tgtcctcaat cactgcttct
      781 ctccgctttg acggggccct caatgtggac ctcactgagt tccagaccaa cctggtgccc
      841 tacccccgca tccacttccc gctggtcacc tacgcgccca tcatctctgc cgagaaagcc
      901 tatcacgaac agctctctgt ggccgagata accagctcct gctttgagcc caacagccag
      961 atggtgaagt gcgacccgag acatggcaag tacatggcct gctgcatgct ctaccggggc
     1021 gacgtggtgc ccaaggatgt gaatgtcgct attgctgcca tcaagaccaa gaggaccatc
     1081 cagtttgtag actggtgtcc cacaggcttc aaggtgggca tcaactacca gcccccgacc
     1141 gtggtccccg ggggagacct ggccaaggtg cagcgggccg tctgcatgct cagcaacacc
     1201 acggccattg cggaggcctg ggcccgcctc gaccacaagt tcgacctcat gtacgccaag
     1261 cgggcctttg tgcattggta tgtgggagag gggatggaag aaggagaatt ttctgaggcc
     1321 agggaagact tagctgccct ggagaaggat tatgaagaag tggggactga ttcgtttgaa
     1381 gaagaaaatg aaggggagga attttaaata tataccttcc ccttggctgt gtctctttat
     1441 ttatgctgtg ccattcaaag cacatgttca agagaacaga acactctccc cgccccagcc
     1501 tgattcctgc cttacccagg aggagggtgc ctggccccag tacccagggt ggcacgactg
     1561 ggctaagtgg acactgagct tcatcaggcc ctccctgggt aggagcagct ttgtgtcact
     1621 aaagaaagtg agggccactg tctccggcgg gtgaggctgc agcccagttt cacatgcgag
     1681 gaggcctaat caggagtttc aattccagat cgggctgggt ccagccccaa aacatggcct
     1741 gctggctggg gagtgggaac actcagagaa aggggagatc tgggcctggg aagattccgg
     1801 ggcaggggtg agcggacgtt cacatgagtg ggtctatagc ccgctccggg catcatctag
     1861 acttagcatg cattcactcc cccatcacat attccaatac acaccctgtc ctaggcactg
     1921 agagctggag agttggtgat aagcgagacg aacacatttc ctgccctcat acacacataa
     1981 ataaagtgaa tgagatcatg tca
//
