LOCUS       NM_080386               1520 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tubulin alpha 3d (TUBA3D), mRNA.
ACCESSION   NM_080386 XM_054284
VERSION     NM_080386.4
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 1520)
  AUTHORS   Hao,X.D., Chen,P., Zhang,Y.Y., Li,S.X., Shi,W.Y. and Gao,H.
  TITLE     De novo mutations of TUBA3D are associated with keratoconus
  JOURNAL   Sci Rep 7 (1), 13570 (2017)
   PUBMED   29051577
  REMARK    GeneRIF: TUBA3D is a new gene that causes keratoconus.The c.31 C >
            T (Gln11stop) and c.201insTT (Val68Leufs*2) mutations lead to
            TUBA3D degradation and higher matrix metalloproteinases expression
            in cornea fibroblasts.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1520)
  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   3  (bases 1 to 1520)
  AUTHORS   Villasante,A., Wang,D., Dobner,P., Dolph,P., Lewis,S.A. and
            Cowan,N.J.
  TITLE     Six mouse alpha-tubulin mRNAs encode five distinct isotypes:
            testis-specific expression of two sister genes
  JOURNAL   Mol Cell Biol 6 (7), 2409-2419 (1986)
   PUBMED   3785200
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB051220.1, BC057810.1 and
            AK292253.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_080386.3.
            
            Summary: This gene encodes a member of the alpha tubulin family.
            Tubulin is a major component of microtubules, which are composed of
            alpha- and beta-tubulin heterodimers and microtubule-associated
            proteins in the cytoskeleton. Microtubules maintain cellular
            structure, function in intracellular transport, and play a role in
            spindle formation during mitosis. [provided by RefSeq, Oct 2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.179383.1,
                                           SRR5189667.179807.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321253.7/ ENSP00000326042.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DB051220.1         114-115
            3-994               BC057810.1         1-992
            995-1518            AK292253.1         994-1517
            1519-1520           BC057810.1         1517-1518
FEATURES             Location/Qualifiers
     source          1..1520
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     gene            1..1520
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /note="tubulin alpha 3d"
                     /db_xref="GeneID:113457"
                     /db_xref="HGNC:HGNC:24071"
                     /db_xref="MIM:617878"
     exon            1..84
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..1434
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /note="alpha-tubulin isotype H2-alpha; tubulin alpha-3C/D
                     chain; tubulin alpha-2 chain; alpha-tubulin 3D; Tubulin
                     alpha-3C chain; Alpha-tubulin 3C"
                     /codon_start=1
                     /product="tubulin alpha-3D chain"
                     /protein_id="NP_525125.2"
                     /db_xref="CCDS:CCDS33290.1"
                     /db_xref="GeneID:113457"
                     /db_xref="HGNC:HGNC:24071"
                     /db_xref="MIM:617878"
                     /translation="MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGG
                     GDDSFNTFFSETGAGKHVPRAVFVDLEPTVVDEVRTGTYRQLFHPEQLITGKEDAANN
                     YARGHYTIGKEIVDLVLDRIRKLADLCTGLQGFLIFHSFGGGTGSGFASLLMERLSVD
                     YGKKSKLEFAIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLD
                     IERPTYTNLNRLIGQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVI
                     SAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCMLYRGDVVPKDVNAAIAT
                     IKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLD
                     HKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDLAALEKDYEEVGVDSVEAEAEEGEEY
                     "
     exon            85..307
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            308..456
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            457..1137
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1520
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1497..1502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /note="hexamer: ATTAAA"
     polyA_site      1520
                     /gene="TUBA3D"
                     /gene_synonym="H2-ALPHA; KTCN9; TUBA2"
                     /note="major polyA site"
ORIGIN      
        1 aggttgcagt tgggcgctca gcagctgtgg cagccggttg aggtctggca gtagcgttgg
       61 gctgaagcag cggagttcgc catgcgcgag tgtatctcta tccacgtggg gcaggcgggt
      121 gtccagatcg gcaatgcctg ctgggaactg tactgccttg aacatggaat tcagcccgat
      181 ggccaaatgc caagtgataa aaccattggt ggcggggacg actccttcaa cacgttcttc
      241 agtgagactg gagctggcaa gcacgtgccc agagcagtgt ttgtggacct ggagcccact
      301 gtggtcgatg aagtgcgcac agggacctac aggcagctct tccacccgga gcagctgatc
      361 accgggaagg aagatgcagc caataattac gccaggggcc attacaccat cggcaaggag
      421 attgttgacc tagtcctgga ccggatccgc aaactggcgg atctgtgcac aggactgcag
      481 ggcttcctca tcttccacag ctttgggggc ggcactggct ctgggttcgc atctctgctc
      541 atggagcggc tctcagtgga ttacggcaag aagtccaagc tagagtttgc catttaccca
      601 gccccccagg tctccacagc cgtggtggag ccctacaact ccatcctgac cacccacacg
      661 accctggaac attctgactg tgccttcatg gtcgacaatg aagccatcta tgacatatgt
      721 cggcgcaacc tggacattga acgtcccacg tacaccaacc tcaatcgcct gattgggcag
      781 atcgtgtcct ccatcacagc ctccctgcga tttgatgggg ccctgaatgt ggacttgacg
      841 gaattccaga ccaacctagt gccgtacccc cgcatccact tccccctggc cacctatgcc
      901 ccagtcatct cagctgagaa ggcctaccac gagcagctgt ctgtggccga gatcaccaat
      961 gcctgcttcg agccagccaa tcaaatggtc aagtgtgacc ctcgccacgg caagtacatg
     1021 gcctgctgca tgttgtacag gggggacgtg gtccccaaag acgtcaacgc ggccatcgcc
     1081 accatcaaga ccaagcgcac catccagttt gtggattggt gcccgactgg atttaaggtg
     1141 ggcattaact accagccccc cacagtggtc cccgggggag acctggccaa ggtgcagcgg
     1201 gccgtgtgca tgctgagcaa caccacggcc attgcggagg cctgggcccg cctggaccat
     1261 aagttcgatc tcatgtatgc caagcgggcc tttgtgcact ggtacgtggg cgaaggcatg
     1321 gaagagggag agttctctga ggcccgcgag gacctggcag ctctagagaa ggattatgaa
     1381 gaggtgggcg tggattccgt ggaagctgag gctgaagaag gcgaagaata ctgaggggag
     1441 ggtgtggtgg gttctcccct gccacccccg ggatggctgc ttccaagttg tttgcaatta
     1501 aaggttctgt ataaaaccaa
//
