LOCUS       NM_006001               1521 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tubulin alpha 3c (TUBA3C), mRNA.
ACCESSION   NM_006001
VERSION     NM_006001.3
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 1521)
  AUTHORS   Bhagwat,S., Dalvi,V., Chandrasekhar,D., Matthew,T., Acharya,K.,
            Gajbhiye,R., Kulkarni,V., Sonawane,S., Ghosalkar,M. and Parte,P.
  TITLE     Acetylated alpha-tubulin is reduced in individuals with poor sperm
            motility
  JOURNAL   Fertil Steril 101 (1), 95-104 (2014)
   PUBMED   24268707
  REMARK    GeneRIF: TUBA3C (and TUBA4A) are differentially expressed in
            individuals with poor sperm motility.
REFERENCE   2  (bases 1 to 1521)
  AUTHORS   Manning,A.K., Hivert,M.F., Scott,R.A., Grimsby,J.L.,
            Bouatia-Naji,N., Chen,H., Rybin,D., Liu,C.T., Bielak,L.F.,
            Prokopenko,I., Amin,N., Barnes,D., Cadby,G., Hottenga,J.J.,
            Ingelsson,E., Jackson,A.U., Johnson,T., Kanoni,S., Ladenvall,C.,
            Lagou,V., Lahti,J., Lecoeur,C., Liu,Y., Martinez-Larrad,M.T.,
            Montasser,M.E., Navarro,P., Perry,J.R., Rasmussen-Torvik,L.J.,
            Salo,P., Sattar,N., Shungin,D., Strawbridge,R.J., Tanaka,T., van
            Duijn,C.M., An,P., de Andrade,M., Andrews,J.S., Aspelund,T.,
            Atalay,M., Aulchenko,Y., Balkau,B., Bandinelli,S., Beckmann,J.S.,
            Beilby,J.P., Bellis,C., Bergman,R.N., Blangero,J., Boban,M.,
            Boehnke,M., Boerwinkle,E., Bonnycastle,L.L., Boomsma,D.I.,
            Borecki,I.B., Bottcher,Y., Bouchard,C., Brunner,E., Budimir,D.,
            Campbell,H., Carlson,O., Chines,P.S., Clarke,R., Collins,F.S.,
            Corbaton-Anchuelo,A., Couper,D., de Faire,U., Dedoussis,G.V.,
            Deloukas,P., Dimitriou,M., Egan,J.M., Eiriksdottir,G., Erdos,M.R.,
            Eriksson,J.G., Eury,E., Ferrucci,L., Ford,I., Forouhi,N.G.,
            Fox,C.S., Franzosi,M.G., Franks,P.W., Frayling,T.M., Froguel,P.,
            Galan,P., de Geus,E., Gigante,B., Glazer,N.L., Goel,A., Groop,L.,
            Gudnason,V., Hallmans,G., Hamsten,A., Hansson,O., Harris,T.B.,
            Hayward,C., Heath,S., Hercberg,S., Hicks,A.A., Hingorani,A.,
            Hofman,A., Hui,J., Hung,J., Jarvelin,M.R., Jhun,M.A., Johnson,P.C.,
            Jukema,J.W., Jula,A., Kao,W.H., Kaprio,J., Kardia,S.L.,
            Keinanen-Kiukaanniemi,S., Kivimaki,M., Kolcic,I., Kovacs,P.,
            Kumari,M., Kuusisto,J., Kyvik,K.O., Laakso,M., Lakka,T.,
            Lannfelt,L., Lathrop,G.M., Launer,L.J., Leander,K., Li,G., Lind,L.,
            Lindstrom,J., Lobbens,S., Loos,R.J., Luan,J., Lyssenko,V., Magi,R.,
            Magnusson,P.K., Marmot,M., Meneton,P., Mohlke,K.L., Mooser,V.,
            Morken,M.A., Miljkovic,I., Narisu,N., O'Connell,J., Ong,K.K.,
            Oostra,B.A., Palmer,L.J., Palotie,A., Pankow,J.S., Peden,J.F.,
            Pedersen,N.L., Pehlic,M., Peltonen,L., Penninx,B., Pericic,M.,
            Perola,M., Perusse,L., Peyser,P.A., Polasek,O., Pramstaller,P.P.,
            Province,M.A., Raikkonen,K., Rauramaa,R., Rehnberg,E., Rice,K.,
            Rotter,J.I., Rudan,I., Ruokonen,A., Saaristo,T., Sabater-Lleal,M.,
            Salomaa,V., Savage,D.B., Saxena,R., Schwarz,P., Seedorf,U.,
            Sennblad,B., Serrano-Rios,M., Shuldiner,A.R., Sijbrands,E.J.,
            Siscovick,D.S., Smit,J.H., Small,K.S., Smith,N.L., Smith,A.V.,
            Stancakova,A., Stirrups,K., Stumvoll,M., Sun,Y.V., Swift,A.J.,
            Tonjes,A., Tuomilehto,J., Trompet,S., Uitterlinden,A.G.,
            Uusitupa,M., Vikstrom,M., Vitart,V., Vohl,M.C., Voight,B.F.,
            Vollenweider,P., Waeber,G., Waterworth,D.M., Watkins,H.,
            Wheeler,E., Widen,E., Wild,S.H., Willems,S.M., Willemsen,G.,
            Wilson,J.F., Witteman,J.C., Wright,A.F., Yaghootkar,H.,
            Zelenika,D., Zemunik,T., Zgaga,L., Wareham,N.J., McCarthy,M.I.,
            Barroso,I., Watanabe,R.M., Florez,J.C., Dupuis,J., Meigs,J.B. and
            Langenberg,C.
  CONSRTM   DIAbetes Genetics Replication And Meta-analysis (DIAGRAM)
            Consortium; Multiple Tissue Human Expression Resource (MUTHER)
            Consortium
  TITLE     A genome-wide approach accounting for body mass index identifies
            genetic variants influencing fasting glycemic traits and insulin
            resistance
  JOURNAL   Nat Genet 44 (6), 659-669 (2012)
   PUBMED   22581228
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1521)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   4  (bases 1 to 1521)
  AUTHORS   Jin,J., Smith,F.D., Stark,C., Wells,C.D., Fawcett,J.P.,
            Kulkarni,S., Metalnikov,P., O'Donnell,P., Taylor,P., Taylor,L.,
            Zougman,A., Woodgett,J.R., Langeberg,L.K., Scott,J.D. and Pawson,T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   5  (bases 1 to 1521)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   6  (bases 1 to 1521)
  AUTHORS   Dode,C., Weil,D., Levilliers,J., Crozet,F., Chaib,H.,
            Levi-Acobas,F., Guilford,P. and Petit,C.
  TITLE     Sequence characterization of a newly identified human alpha-tubulin
            gene (TUBA2)
  JOURNAL   Genomics 47 (1), 125-130 (1998)
   PUBMED   9465305
REFERENCE   7  (bases 1 to 1521)
  AUTHORS   Crepieux,P., Kwon,H., Leclerc,N., Spencer,W., Richard,S., Lin,R.
            and Hiscott,J.
  TITLE     I kappaB alpha physically interacts with a cytoskeleton-associated
            protein through its signal response domain
  JOURNAL   Mol Cell Biol 17 (12), 7375-7385 (1997)
   PUBMED   9372968
REFERENCE   8  (bases 1 to 1521)
  AUTHORS   Marie-Cardine,A., Kirchgessner,H., Eckerskorn,C., Meuer,S.C. and
            Schraven,B.
  TITLE     Human T lymphocyte activation induces tyrosine phosphorylation of
            alpha-tubulin and its association with the SH2 domain of the p59fyn
            protein tyrosine kinase
  JOURNAL   Eur J Immunol 25 (12), 3290-3297 (1995)
   PUBMED   8566014
REFERENCE   9  (bases 1 to 1521)
  AUTHORS   Guilford,P., Dode,C., Crozet,F., Blanchard,S., Chaib,H.,
            Levilliers,J., Levi-Acobas,F., Weil,D., Weissenbach,J., Cohen,D. et
            al.
  TITLE     A YAC contig and an EST map in the pericentromeric region of
            chromosome 13 surrounding the loci for neurosensory nonsyndromic
            deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type
            2C (LGMD2C)
  JOURNAL   Genomics 29 (1), 163-169 (1995)
   PUBMED   8530067
REFERENCE   10 (bases 1 to 1521)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB026664.1, AL139327.18,
            DB524026.1 and AA412719.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006001.2.
            
            Summary: Microtubules of the eukaryotic cytoskeleton perform
            essential and diverse functions and are composed of a heterodimer
            of alpha and beta tubulin. The genes encoding these microtubule
            constituents are part of 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 and they are highly conserved among and between species. This
            gene is an alpha tubulin gene that encodes a protein 99% identical
            to the mouse testis-specific Tuba3 and Tuba7 gene products. This
            gene is located in the 13q11 region, which is associated with the
            genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki
            syndrome. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR5189667.139094.1,
                                           SRR5189667.143419.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400113.8/ ENSP00000382982.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-526               DB026664.1         29-554
            527-1056            AL139327.18        50152-50681         c
            1057-1519           DB524026.1         1-463
            1520-1521           AA412719.1         16-17               c
FEATURES             Location/Qualifiers
     source          1..1521
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     gene            1..1521
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /note="tubulin alpha 3c"
                     /db_xref="GeneID:7278"
                     /db_xref="HGNC:HGNC:12408"
                     /db_xref="MIM:602528"
     exon            1..80
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1430
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /note="tubulin, alpha 2; tubulin alpha-3C/D chain; Tubulin
                     alpha-3D chain; alpha-tubulin 3C; alpha-tubulin 2;
                     alpha-tubulin 3C/D; tubulin alpha-2 chain; Alpha-tubulin
                     3D"
                     /codon_start=1
                     /product="tubulin alpha-3C chain"
                     /protein_id="NP_005992.1"
                     /db_xref="CCDS:CCDS9284.1"
                     /db_xref="GeneID:7278"
                     /db_xref="HGNC:HGNC:12408"
                     /db_xref="MIM:602528"
                     /translation="MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGG
                     GDDSFNTFFSETGAGKHVPRAVFVDLEPTVVDEVRTGTYRQLFHPEQLITGKEDAANN
                     YARGHYTIGKEIVDLVLDRIRKLADLCTGLQGFLIFHSFGGGTGSGFASLLMERLSVD
                     YGKKSKLEFAIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLD
                     IERPTYTNLNRLIGQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVI
                     SAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCMLYRGDVVPKDVNAAIAT
                     IKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLD
                     HKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDLAALEKDYEEVGVDSVEAEAEEGEEY
                     "
     exon            81..303
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            304..452
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            453..1133
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1521
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1498..1503
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /note="hexamer: ATTAAA"
     polyA_site      1521
                     /gene="TUBA3C"
                     /gene_synonym="bA408E5.3; TUBA2"
                     /note="major polyA site"
ORIGIN      
        1 gtcgttgggc gtgcgcagct gcagcggcgg ttgaggtcaa gtagtagcgt tgggctgcgg
       61 cagcggagga gctcaacatg cgtgagtgta tctctatcca cgtggggcag gcaggagtcc
      121 agatcggcaa tgcctgctgg gaactgtact gcctggaaca tggaattcag cccgatggtc
      181 agatgccaag tgataaaacc attggtggtg gggacgactc cttcaacacg ttcttcagtg
      241 agactggagc tggcaagcac gtgcccagag cagtgtttgt ggacctggag cccactgtgg
      301 tcgatgaagt gcgcacagga acctataggc agctcttcca cccagagcag ctgatcaccg
      361 ggaaggaaga tgcggccaat aattacgcca gaggccatta caccatcggc aaggagatcg
      421 tcgacctggt cctggaccgg atccgcaaac tggcggatct gtgcacggga ctgcagggct
      481 tcctcatctt ccacagtttt gggggtggca ctggctctgg gttcgcatct ctgctcatgg
      541 agcggctctc agtggattac ggcaagaagt ccaagctaga atttgccatt tacccagccc
      601 cccaggtctc cacggccgtg gtggagccct acaactccat cctgaccacc cacacgaccc
      661 tggaacattc tgactgtgcc ttcatggtcg acaatgaagc catctatgac atatgtcggc
      721 gcaacctgga catcgagcgt cccacgtaca ccaacctcaa tcgcctgatt gggcagatcg
      781 tgtcctccat cacggcctcc ctgcgatttg acggggccct gaatgtggac ttgacggaat
      841 tccagaccaa cctagtgccg tacccccgca tccacttccc cctggccacc tacgccccgg
      901 tcatctcagc cgagaaggcc taccacgagc agctgtccgt ggctgagatc accaatgcct
      961 gcttcgagcc agccaatcag atggtcaagt gtgaccctcg ccacggcaag tacatggcct
     1021 gctgcatgtt gtacaggggg gatgtggtcc cgaaagatgt caacgcggcc atcgccacca
     1081 tcaagaccaa gcgcaccatc cagtttgtag attggtgccc aactggattt aaggtgggca
     1141 ttaactacca gccccccacg gtggtccctg ggggagacct ggccaaggtg cagcgggctg
     1201 tgtgcatgct gagcaacacc acggccatcg cggaggcctg ggctcgcctg gaccataagt
     1261 tcgatctcat gtatgccaag cgggcctttg tgcactggta cgtgggagaa ggcatggagg
     1321 agggggagtt ctctgaggcc cgcgaggacc tggcagctct ggagaaggat tatgaagagg
     1381 tgggcgtgga ttccgtggaa gccgaggctg aagaaggtga agaatactga ggggagggtg
     1441 tggtgggttc tccactccac tgccaccccc agcgtggctg ctttcaagtt ctttgcaatt
     1501 aaaggttctg tataaaacca a
//
