LOCUS       NM_006000               2049 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tubulin alpha 4a (TUBA4A), transcript variant 1, mRNA.
ACCESSION   NM_006000
VERSION     NM_006000.3
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 2049)
  AUTHORS   Wan,Y., Zhou,C., Chang,X., Wu,L., Zheng,Y., Yu,J., Bai,L., Luan,M.,
            Yu,M., Wang,Q., Zhang,W., Yuan,Y., Deng,J. and Wang,Z.
  TITLE     Novel TUBA4A variant causes congenital myopathy with focal
            myofibrillar disorganisation
  JOURNAL   J Med Genet 61 (7), 626-632 (2024)
   PUBMED   38413182
  REMARK    GeneRIF: Novel TUBA4A variant causes congenital myopathy with focal
            myofibrillar disorganisation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2049)
  AUTHORS   Torella,A., Ricca,I., Piluso,G., Galatolo,D., De Michele,G.,
            Zanobio,M., Trovato,R., De Michele,G., Zeuli,R., Pane,C.,
            Cocozza,S., Sacca,F., Santorelli,F.M., Nigro,V. and Filla,A.
  TITLE     A new genetic cause of spastic ataxia: the p.Glu415Lys variant in
            TUBA4A
  JOURNAL   J Neurol 270 (10), 5057-5063 (2023)
   PUBMED   37418012
  REMARK    GeneRIF: A new genetic cause of spastic ataxia: the p.Glu415Lys
            variant in TUBA4A.
REFERENCE   3  (bases 1 to 2049)
  AUTHORS   Ganne,A., Balasubramaniam,M., Ayyadevara,H., Kiaei,L., Shmookler
            Reis,R.J., Varughese,K.I. and Kiaei,M.
  TITLE     In silico analysis of TUBA4A mutations in Amyotrophic Lateral
            Sclerosis to define mechanisms of microtubule disintegration
  JOURNAL   Sci Rep 13 (1), 2096 (2023)
   PUBMED   36747013
  REMARK    GeneRIF: In silico analysis of TUBA4A mutations in Amyotrophic
            Lateral Sclerosis to define mechanisms of microtubule
            disintegration.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2049)
  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 2049)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2049)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   7  (bases 1 to 2049)
  AUTHORS   Kirsch,J., Langosch,D., Prior,P., Littauer,U.Z., Schmitt,B. and
            Betz,H.
  TITLE     The 93-kDa glycine receptor-associated protein binds to tubulin
  JOURNAL   J Biol Chem 266 (33), 22242-22245 (1991)
   PUBMED   1657993
REFERENCE   8  (bases 1 to 2049)
  AUTHORS   Dobner,P.R., Kislauskis,E., Wentworth,B.M. and Villa-Komaroff,L.
  TITLE     Alternative 5' exons either provide or deny an initiator methionine
            codon to the same alpha-tubulin coding region
  JOURNAL   Nucleic Acids Res 15 (1), 199-218 (1987)
   PUBMED   3029670
REFERENCE   9  (bases 1 to 2049)
  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
REFERENCE   10 (bases 1 to 2049)
  AUTHORS   Hall,J.L. and Cowan,N.J.
  TITLE     Structural features and restricted expression of a human
            alpha-tubulin gene
  JOURNAL   Nucleic Acids Res 13 (1), 207-223 (1985)
   PUBMED   3839072
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP346611.1, AK054731.1 and
            AC068946.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006000.2.
            
            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 encodes an alpha tubulin that is a highly conserved homolog of
            a rat testis-specific alpha tubulin. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jun 2013].
            
            Transcript Variant: This variant (1) 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 :: SRR3476690.148068.1,
                                           SRR3476690.544408.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000248437.9/ ENSP00000248437.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BP346611.1         29-30
            3-2048              AK054731.1         1-2046
            2049-2049           AC068946.4         144068-144068       c
FEATURES             Location/Qualifiers
     source          1..2049
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2049
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /note="tubulin alpha 4a"
                     /db_xref="GeneID:7277"
                     /db_xref="HGNC:HGNC:12407"
                     /db_xref="MIM:191110"
     exon            1..63
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1407
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tubulin, alpha 1 (testis specific); tubulin alpha-1 chain;
                     tubulin H2-alpha"
                     /codon_start=1
                     /product="tubulin alpha-4A chain isoform 1"
                     /protein_id="NP_005991.1"
                     /db_xref="CCDS:CCDS2438.1"
                     /db_xref="GeneID:7277"
                     /db_xref="HGNC:HGNC:12407"
                     /db_xref="MIM:191110"
                     /translation="MRECISVHVGQAGVQMGNACWELYCLEHGIQPDGQMPSDKTIGG
                     GDDSFTTFFCETGAGKHVPRAVFVDLEPTVIDEIRNGPYRQLFHPEQLITGKEDAANN
                     YARGHYTIGKEIIDPVLDRIRKLSDQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVD
                     YGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLD
                     IERPTYTNLNRLISQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVI
                     SAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCLLYRGDVVPKDVNAAIAA
                     IKTKRSIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLD
                     HKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEVGIDSYEDEDEGEE"
     exon            64..286
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            287..435
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /inference="alignment:Splign:2.1.0"
     exon            436..2049
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1457..1462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /note="hexamer: AATAAA"
     polyA_site      1475
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /note="major polyA site"
     regulatory      2028..2033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
                     /note="hexamer: ATTAAA"
     polyA_site      2049
                     /gene="TUBA4A"
                     /gene_synonym="ALS22; H2-ALPHA; TUBA1"
ORIGIN      
        1 gcagttctca ctgagacctg tcaccccgac tcaacgtgag acgcaccgcc cggactcacc
       61 atgcgtgaat gcatctcagt ccacgtgggg caggcaggtg tccagatggg caatgcctgc
      121 tgggagctct attgcttgga acatgggatt cagcctgatg ggcagatgcc cagtgacaag
      181 accattggtg gaggggacga ctccttcacc accttcttct gtgaaactgg tgctggaaaa
      241 cacgtacccc gggcagtttt tgtggatctg gagcctacgg tcattgatga gatccgaaat
      301 ggcccatacc gacagctctt ccacccagag cagctcatca ctgggaaaga ggatgctgcc
      361 aacaactatg cccgtggtca ctataccatt ggcaaggaga tcattgaccc agtgctggat
      421 cggatccgca agctgtctga ccagtgcaca ggacttcagg gcttcctggt gttccacagc
      481 tttggtgggg gcactggctc tggcttcacc tcactcctga tggagcggct ctctgttgac
      541 tatggcaaga aatccaagct ggaattctcc atctacccag ccccccaggt gtctacagcc
      601 gtggtcgagc cctacaactc tatcctgacc acccacacca ccctggagca ctcagactgt
      661 gccttcatgg tggacaacga agcaatctat gacatctgcc gccgcaacct agacatcgag
      721 cgcccaacct acaccaacct caatcgcctc attagccaaa ttgtctcctc catcacagct
      781 tctctgcgct ttgacggggc cctcaatgtg gacctgacag agttccagac caacctggtg
      841 ccctaccctc gcatccactt ccccctggcc acctatgcac cagtcatctc tgcagaaaag
      901 gcataccacg agcagctgtc ggtggcagag atcaccaatg cctgctttga gcctgccaac
      961 cagatggtaa agtgtgatcc ccggcacggc aagtacatgg cctgctgcct gctgtaccgt
     1021 ggagatgtgg tgcccaagga tgtcaacgct gccattgccg ccatcaagac caagcgcagc
     1081 attcagtttg tggactggtg ccccacaggc ttcaaggttg gtatcaacta ccagcctccc
     1141 actgtggtgc ctgggggtga cctggccaag gtgcagcgtg ccgtgtgcat gctgagcaac
     1201 acgaccgcca tcgccgaggc ctgggcccgc ctggaccaca agttcgacct gatgtatgcc
     1261 aagagggcgt ttgtgcactg gtatgtgggt gagggcatgg aggagggtga gttctccgag
     1321 gcccgtgagg atatggctgc cctggagaag gattatgagg aggtgggcat cgactcctat
     1381 gaggacgagg atgagggaga agaataaagc agctgcctgg agcctattca ctatgtttat
     1441 tgcaaaatcc tttcgaaata aacagtttcc ttgcacggtt tcttgttccc tctgagtgct
     1501 tgagcttctg ctgccttccc cttcatgctg ctgctgctct gtttgctgtt catgaccctt
     1561 atcccttcca tcgctgaagg tgagacctgc aaaggggttc ttgccaggcc caggaagcat
     1621 aaccccaggg actttaaatt gaagtcctag ggttactcag tatagggagg aaatgaggac
     1681 caaaatccag gcacaaactg ttgaaggatg agtcttcagc tcctttccaa gtaggagtat
     1741 aatccagtgg tttctgtctt tgaaagttag actgctaccc tgttcttcct gctgcctcta
     1801 catttaccaa ctctggaagc aaggcttggc ccaggctcct ctgtgcatta tgagggtttg
     1861 ggagtggggc tgggctggcc cagagttcct gggcatggag ccacgtcata agcttggggg
     1921 atgggaggga acacaggcga tctcctagag ttgtttgtgc cactgcacct ctgagcagct
     1981 ttgcatagct tcctgtcttg ctgctttgct ggagctgggg ctgtgccatt aaaagtcagg
     2041 tcatctccc
//
