LOCUS       NM_016262               2225 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tubulin epsilon 1 (TUBE1), mRNA.
ACCESSION   NM_016262
VERSION     NM_016262.5
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 2225)
  AUTHORS   Pitsava,G., Feldkamp,M.L., Pankratz,N., Lane,J., Kay,D.M.,
            Conway,K.M., Shaw,G.M., Reefhuis,J., Jenkins,M.M., Almli,L.M.,
            Olshan,A.F., Pangilinan,F., Brody,L.C., Sicko,R.J., Hobbs,C.A.,
            Bamshad,M., McGoldrick,D., Nickerson,D.A., Finnell,R.H.,
            Mullikin,J., Romitti,P.A. and Mills,J.L.
  CONSRTM   University of Washington Center for Mendelian Genomics, NISC
            Comparative Sequencing Program and the National Birth Defects
            Prevention Study
  TITLE     Exome sequencing of child-parent trios with bladder exstrophy:
            Findings in 26 children
  JOURNAL   Am J Med Genet A 185 (10), 3028-3041 (2021)
   PUBMED   34355505
  REMARK    GeneRIF: Exome sequencing of child-parent trios with bladder
            exstrophy: Findings in 26 children.
REFERENCE   2  (bases 1 to 2225)
  AUTHORS   Wang,J.T., Kong,D., Hoerner,C.R., Loncarek,J. and Stearns,T.
  TITLE     Centriole triplet microtubules are required for stable centriole
            formation and inheritance in human cells
  JOURNAL   Elife 6, e29061 (2017)
   PUBMED   28906251
  REMARK    GeneRIF: Here, the authors report that centrioles in delta-tubulin
            and epsilon-tubulin null mutant human cells lack triplet
            microtubules and fail to undergo centriole maturation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2225)
  AUTHORS   Olson,J.E., Wang,X., Pankratz,V.S., Fredericksen,Z.S., Vachon,C.M.,
            Vierkant,R.A., Cerhan,J.R. and Couch,F.J.
  TITLE     Centrosome-related genes, genetic variation, and risk of breast
            cancer
  JOURNAL   Breast Cancer Res Treat 125 (1), 221-228 (2011)
   PUBMED   20508983
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2225)
  AUTHORS   Zanic,M., Stear,J.H., Hyman,A.A. and Howard,J.
  TITLE     EB1 recognizes the nucleotide state of tubulin in the microtubule
            lattice
  JOURNAL   PLoS One 4 (10), e7585 (2009)
   PUBMED   19851462
  REMARK    GeneRIF: EB1 recognizes the nucleotide state of tubulin in the
            microtubule lattice
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2225)
  AUTHORS   Chang,P., Giddings,T.H. Jr., Winey,M. and Stearns,T.
  TITLE     Epsilon-tubulin is required for centriole duplication and
            microtubule organization
  JOURNAL   Nat Cell Biol 5 (1), 71-76 (2003)
   PUBMED   12510196
REFERENCE   6  (bases 1 to 2225)
  AUTHORS   Chang,P. and Stearns,T.
  TITLE     Delta-tubulin and epsilon-tubulin: two new human centrosomal
            tubulins reveal new aspects of centrosome structure and function
  JOURNAL   Nat Cell Biol 2 (1), 30-35 (2000)
   PUBMED   10620804
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK026242.1, BC025405.2 and
            CA411886.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016262.4.
            
            Summary: This gene encodes a member of the tubulin superfamily.
            This protein localizes to the centriolar sub-distal appendages that
            are associated with the older of the two centrioles after
            centrosome duplication. This protein plays a central role in
            organization of the microtubules during centriole duplication. A
            pseudogene of this gene is found on chromosome 5.[provided by
            RefSeq, Jan 2009].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC025405.2, AK026242.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368662.10/ ENSP00000357651.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1519              AK026242.1         32-1550
            1520-2111           BC025405.2         1491-2082
            2112-2225           CA411886.1         24-137              c
FEATURES             Location/Qualifiers
     source          1..2225
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..2225
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /note="tubulin epsilon 1"
                     /db_xref="GeneID:51175"
                     /db_xref="HGNC:HGNC:20775"
                     /db_xref="MIM:607345"
     exon            1..73
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..1476
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /note="epsilon-tubulin"
                     /codon_start=1
                     /product="tubulin epsilon chain"
                     /protein_id="NP_057346.1"
                     /db_xref="CCDS:CCDS5100.1"
                     /db_xref="GeneID:51175"
                     /db_xref="HGNC:HGNC:20775"
                     /db_xref="MIM:607345"
                     /translation="MTQSVVVQVGQCGNQIGCCFWDLALREHAAVNQKGIYDEAISSF
                     FRNVDTRVVGDGGSISKGKICSLKARAVLIDMEEGVVNEILQGPLRDVFDTKQLITDI
                     SGSGNNWAVGHKVFGSLYQDQILEKFRKSAEHCDCLQCFFIIHSMGGGTGSGLGTFLL
                     KVLEDEFPEVYRFVTSIYPSGEDDVITSPYNSILAMKELNEHADCVLPIDNQSLFDII
                     SKIDLMVNSGKLGTTVKPKSLVTSSSGALKKQHKKPFDAMNNIVANLLLNLTSSARFE
                     GSLNMDLNEISMNLVPFPQLHYLVSSLTPLYTLTDVNIPPRRLDQMFSDAFSKDHQLL
                     RADPKHSLYLACALMVRGNVQISDLRRNIERLKPSLQFVSWNQEGWKTSLCSVPPVGH
                     SHSLLALANNTCVKPTFMELKERFMRLYKKKAHLHHYLQVEGMEESCFTEAVSSLSAL
                     IQEYDQLDATKNMPVQDLPRLSIAM"
     exon            74..147
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            148..200
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            201..258
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            259..374
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            375..496
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            497..684
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            685..860
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            861..1001
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1142
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1317
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..2225
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2090..2095
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /note="hexamer: AATAAA"
     polyA_site      2113
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
     regulatory      2193..2198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /note="hexamer: AATAAA"
     polyA_site      2225
                     /gene="TUBE1"
                     /gene_synonym="dJ142L7.2; TUBE"
                     /note="major polyA site"
ORIGIN      
        1 agaagcggcc gcgggctagc aagctcccgg agccggcggc gcaccaccat gacccagtcg
       61 gtggtcgtac aggtcggcca gtgcggaaac cagatcggct gctgcttctg ggacctggca
      121 ctaagggagc acgccgcggt caaccagaaa ggaatttatg atgaggcaat aagcagcttc
      181 tttagaaatg tggacaccag agtggttggt gatggtggaa gtatttccaa gggaaaaata
      241 tgttctttaa aagcacgagc agtcttgatt gatatggaag aaggggtagt gaatgaaatt
      301 ctgcagggac cactgagaga tgtatttgat acgaaacagc tcatcactga tatttctggc
      361 tcaggaaata attgggccgt gggtcacaaa gttttcggca gtctttacca agaccagatt
      421 ttagagaaat tcagaaagtc ggcagagcac tgtgattgct tgcagtgttt ctttataata
      481 cattccatgg gaggaggaac aggatctgga cttggcacat ttcttttaaa ggtgcttgaa
      541 gacgaattcc cagaagtata cagatttgtg acttccattt atccttctgg tgaggatgat
      601 gtcataacct caccttataa tagcatcttg gcaatgaagg aacttaatga gcatgcagac
      661 tgtgtattgc ccattgacaa tcaatcttta tttgacatca ttagcaaaat cgacctcatg
      721 gtgaattctg gaaagttggg tacaactgtg aagccaaaga gtctggttac ttcaagttct
      781 ggggctttaa aaaagcagca taagaagccc tttgatgcaa tgaataacat tgtggcaaat
      841 ttgctcctca acctaacgag ctctgcaaga tttgaagggt cccttaatat ggaccttaat
      901 gaaatcagca tgaatttagt tccttttcct caacttcatt atctcgtgtc aagcctaaca
      961 cctctgtata cactgacaga tgttaacatt cctcctagaa gattggatca gatgttttca
     1021 gatgccttta gtaaagatca ccagctgctt cgggcagacc ccaaacacag tctttacctc
     1081 gcctgtgcac tcatggttag aggaaatgta caaatttcag atcttcgtag aaatattgaa
     1141 agattaaaac catctctaca atttgtctcc tggaatcaag aaggctggaa gaccagcctg
     1201 tgttccgtac ctcctgtggg ccattctcat tcgttattag ctttagcaaa taacacatgt
     1261 gtgaagccca ccttcatgga actgaaagag agattcatga ggctctacaa gaaaaaggct
     1321 caccttcatc actatctaca agttgaaggg atggaagaaa gctgtttcac agaagctgtg
     1381 tcatctttat cagcactcat acaggaatat gaccaactgg acgccacaaa aaacatgcct
     1441 gtgcaggatt tacccagact aagcatagct atgtgaaaaa gaaaccctca aaaatacttt
     1501 cttaatttca cattgttttt tctgaccttt ctgtttcaac atttttgtaa tttggaaact
     1561 ccagtttttt catattatcg ggaaatattt ttgtctaaaa gagtgatttc tgtttaatcg
     1621 caatttgttg gtaataccaa tgtgtgaaat tagtgaaatc ttagtacctt aacttcaaac
     1681 atttctcttc agaaaagttc ccttttctaa aattgagata acatagttct tgaatatttt
     1741 gctgtattta tagcctcata tttaggcatt tatgcactga tgtgtcttca ataaaaatct
     1801 tgtacagata tatttttata attatttata atttatattt tgatattcta tttaagttat
     1861 cctgattctt taaaagtagt tattgggagt agaagaacac aatataaata tttccgtgta
     1921 atagccacca acttttcagg cataggtttt attacaactg ttaaggaggt tttgcttctt
     1981 ctttagataa caacttgttt gcccaaaaga atcctaattt gtacacttaa catgtatttg
     2041 tattaaactt tttaaataat tgctttctta tcaaaccaat tgattttata ataaatgtct
     2101 atatttttca acagtgctac ttgttattgt tctgcatgac atttatgcaa atgaacagaa
     2161 tgttactaag cttgatatct tccaaacttt gcaataaatg gctataattg ttccggttac
     2221 tataa
//
