LOCUS       NM_177987               1562 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens tubulin beta 8 class VIII (TUBB8), transcript variant
            1, mRNA.
ACCESSION   NM_177987
VERSION     NM_177987.3
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 1562)
  AUTHORS   Hu,T., Li,C., Qiao,S., Liu,W., Han,W., Li,W., Shi,R., Xue,X.,
            Shi,J., Huang,G. and Lin,T.
  TITLE     Novel variants in TUBB8 gene cause multiple phenotypic
            abnormalities in human oocytes and early embryos
  JOURNAL   J Ovarian Res 16 (1), 228 (2023)
   PUBMED   38007525
  REMARK    GeneRIF: Novel variants in TUBB8 gene cause multiple phenotypic
            abnormalities in human oocytes and early embryos.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1562)
  AUTHORS   Ebru,H., Dahan,M.H., Sezer,O., Basbug,A., Kaan,H., Gungor,N.D.,
            Baltaci,V., Tan,S.L. and Safak,H.
  TITLE     TUBB8 mutations as a cause of oocyte maturation abnormalities:
            presentation of oocyte and embryo profiles and novel mutations
  JOURNAL   Reprod Biomed Online 47 (5), 103257 (2023)
   PUBMED   37672871
  REMARK    GeneRIF: TUBB8 mutations as a cause of oocyte maturation
            abnormalities: presentation of oocyte and embryo profiles and novel
            mutations.
REFERENCE   3  (bases 1 to 1562)
  AUTHORS   Dou,Q., Xu,H., Ma,L., Tan,L. and Tang,W.
  TITLE     Phenotypic variability in two female siblings with oocyte
            maturation arrest due to a TUBB8 variant
  JOURNAL   BMC Med Genomics 16 (1), 271 (2023)
   PUBMED   37904145
  REMARK    GeneRIF: Phenotypic variability in two female siblings with oocyte
            maturation arrest due to a TUBB8 variant.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1562)
  AUTHORS   Boroujeni,P.B., Rooney,K., Alikhani,M., Rahmati,S., Feli,G.,
            Haratian,K., Movaghar,B. and Meybodi,A.M.
  TITLE     Evaluation of TUBB8 gene alterations in infertile women with oocyte
            maturation and cleavage arrest referred to Royan Institute
  JOURNAL   Reprod Biomed Online 47 (4), 103226 (2023)
   PUBMED   37597348
  REMARK    GeneRIF: Evaluation of TUBB8 gene alterations in infertile women
            with oocyte maturation and cleavage arrest referred to Royan
            Institute.
REFERENCE   5  (bases 1 to 1562)
  AUTHORS   Zhang,J., Li,S., Huang,F., Xu,R., Wang,D., Song,T., Liang,B.,
            Liu,D., Chen,J., Shi,X. and Huang,H.L.
  TITLE     A novel compound heterozygous mutation in TUBB8 causing early
            embryonic developmental arrest
  JOURNAL   J Assist Reprod Genet 40 (4), 753-763 (2023)
   PUBMED   36735156
  REMARK    GeneRIF: A novel compound heterozygous mutation in TUBB8 causing
            early embryonic developmental arrest.
REFERENCE   6  (bases 1 to 1562)
  AUTHORS   Chen,B., Li,B., Li,D., Yan,Z., Mao,X., Xu,Y., Mu,J., Li,Q., Jin,L.,
            He,L., Kuang,Y., Sang,Q. and Wang,L.
  TITLE     Novel mutations and structural deletions in TUBB8: expanding
            mutational and phenotypic spectrum of patients with arrest in
            oocyte maturation, fertilization or early embryonic development
  JOURNAL   Hum Reprod 32 (2), 457-464 (2017)
   PUBMED   27989988
  REMARK    GeneRIF: The results not only emphasize the important role of TUBB8
            in oocyte maturation, fertilization and early embryonic development
            but they also provide a basis for determining the genetic
            variations in TUBB8 as a potential additional criterion for
            evaluating the quality of patients' functional PB1 oocytes.
REFERENCE   7  (bases 1 to 1562)
  AUTHORS   Feng,R., Yan,Z., Li,B., Yu,M., Sang,Q., Tian,G., Xu,Y., Chen,B.,
            Qu,R., Sun,Z., Sun,X., Jin,L., He,L., Kuang,Y., Cowan,N.J. and
            Wang,L.
  TITLE     Mutations in TUBB8 cause a multiplicity of phenotypes in human
            oocytes and early embryos
  JOURNAL   J Med Genet 53 (10), 662-671 (2016)
   PUBMED   27273344
  REMARK    GeneRIF: 9 novel TUBB8 mutations and phenotypes in patients with
            oocyte maturation arrest were reported.
REFERENCE   8  (bases 1 to 1562)
  AUTHORS   Feng,R., Sang,Q., Kuang,Y., Sun,X., Yan,Z., Zhang,S., Shi,J.,
            Tian,G., Luchniak,A., Fukuda,Y., Li,B., Yu,M., Chen,J., Xu,Y.,
            Guo,L., Qu,R., Wang,X., Sun,Z., Liu,M., Shi,H., Wang,H., Feng,Y.,
            Shao,R., Chai,R., Li,Q., Xing,Q., Zhang,R., Nogales,E., Jin,L.,
            He,L., Gupta,M.L. Jr., Cowan,N.J. and Wang,L.
  TITLE     Mutations in TUBB8 and Human Oocyte Meiotic Arrest
  JOURNAL   N Engl J Med 374 (3), 223-232 (2016)
   PUBMED   26789871
  REMARK    GeneRIF: TUBB8 mutations have dominant-negative effects that
            disrupt microtubule behavior and oocyte meiotic spindle assembly
            and maturation, causing female infertility.
REFERENCE   9  (bases 1 to 1562)
  AUTHORS   van Geel,M., Eichler,E.E., Beck,A.F., Shan,Z., Haaf,T., van der
            Maarel,S.M., Frants,R.R. and de Jong,P.J.
  TITLE     A cascade of complex subtelomeric duplications during the evolution
            of the hominoid and Old World monkey genomes
  JOURNAL   Am J Hum Genet 70 (1), 269-278 (2002)
   PUBMED   11731935
REFERENCE   10 (bases 1 to 1562)
  AUTHORS   van Geel,M., van Deutekom,J.C., van Staalduinen,A., Lemmers,R.J.,
            Dickson,M.C., Hofker,M.H., Padberg,G.W., Hewitt,J.E., de Jong,P.J.
            and Frants,R.R.
  TITLE     Identification of a novel beta-tubulin subfamily with one member
            (TUBB4Q) located near the telomere of chromosome region 4q35
  JOURNAL   Cytogenet Cell Genet 88 (3-4), 316-321 (2000)
   PUBMED   10828619
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713922.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 27, 2019 this sequence version replaced NM_177987.2.
            
            Summary: The protein encoded by this gene represents the primary
            beta-tubulin subunit of oocytes and the early embryo. Defects in
            this gene, which is primate-specific, are a cause of oocyte
            maturation defect 2 and infertility. [provided by RefSeq, Mar
            2016].
            
            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 :: BC101270.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000568584.6/ ENSP00000456206.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               AL713922.12        35122-35236         c
            116-224             AL713922.12        34744-34852         c
            225-335             AL713922.12        34555-34665         c
            336-1562            AL713922.12        32828-34054         c
FEATURES             Location/Qualifiers
     source          1..1562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.3"
     gene            1..1562
                     /gene="TUBB8"
                     /gene_synonym="bA631M21.2; OOMD; OOMD2; OZEMA2"
                     /note="tubulin beta 8 class VIII"
                     /db_xref="GeneID:347688"
                     /db_xref="HGNC:HGNC:20773"
                     /db_xref="MIM:616768"
     exon            1..115
                     /gene="TUBB8"
                     /gene_synonym="bA631M21.2; OOMD; OOMD2; OZEMA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1393
                     /gene="TUBB8"
                     /gene_synonym="bA631M21.2; OOMD; OOMD2; OZEMA2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tubulin beta-8 chain; HSA10p15 beta-tubulin 4Q"
                     /codon_start=1
                     /product="tubulin beta-8 chain isoform 1"
                     /protein_id="NP_817124.1"
                     /db_xref="CCDS:CCDS7051.1"
                     /db_xref="GeneID:347688"
                     /db_xref="HGNC:HGNC:20773"
                     /db_xref="MIM:616768"
                     /translation="MREIVLTQIGQCGNQIGAKFWEVISDEHAIDSAGTYHGDSHLQL
                     ERINVYYNEASGGRYVPRAVLVDLEPGTMDSVRSGPFGQVFRPDNFIFGQCGAGNNWA
                     KGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLLSKIREEYP
                     DRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLP
                     TPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSR
                     GSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLTAAAIFRGRMPMREVDEQMFNIQ
                     DKNSSYFADWLPNNVKTAVCDIPPRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRK
                     AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA"
     exon            116..224
                     /gene="TUBB8"
                     /gene_synonym="bA631M21.2; OOMD; OOMD2; OZEMA2"
                     /inference="alignment:Splign:2.1.0"
     exon            225..335
                     /gene="TUBB8"
                     /gene_synonym="bA631M21.2; OOMD; OOMD2; OZEMA2"
                     /inference="alignment:Splign:2.1.0"
     exon            336..1562
                     /gene="TUBB8"
                     /gene_synonym="bA631M21.2; OOMD; OOMD2; OZEMA2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gctgcgcgtc tgctcctcct tctcacgttt ctcctgccgt cctaatcccg ccttggccat
       61 gagggagatc gtgctcacgc agatcgggca gtgcgggaat cagatcggcg ccaagttctg
      121 ggaggtgatc tctgatgaac atgccatcga ctccgctggc acctaccacg gggacagcca
      181 cctgcagctg gagcgcatca acgtgtacta caacgaggcc agcggtggca ggtacgtgcc
      241 ccgcgctgtg ctcgtggatc tggagccggg caccatggac tctgtgcgct cggggccctt
      301 cgggcaggtc ttcaggccag acaacttcat cttcggtcag tgtggggccg gaaacaactg
      361 ggccaaggga cactacaccg aaggcgcgga gctgatggag tcagtgatgg acgttgtcag
      421 aaaggaggct gagagctgtg actgcctgca gggtttccag ctgacccact ccctgggtgg
      481 ggggactggg tctgggatgg gtacccttct gctcagtaag atccgggagg agtacccaga
      541 caggatcata aacacattca gcatcctgcc ctcgcccaag gtgtcggaca ccgtggtgga
      601 gccctacaac gccaccctct cagtccacca gctcatagaa aacgcagatg agaccttttg
      661 catagataac gaagctctgt atgacatatg ttccaagacc ctaaaactgc ccacacccac
      721 ctatggtgac ctgaaccacc tggtgtctgc taccatgagt ggggtcacca cgtgcctgcg
      781 cttcccgggc cagctgaatg ctgacctgcg gaagctggcc gtgaacatgg tcccgtttcc
      841 ccggctgcat ttcttcatgc ccggctttgc cccactgacc agccggggca gccagcagta
      901 ccgggccttg actgtggctg agcttaccca gcagatgttt gatgctaaga acatgatggc
      961 tgcctgtgac ccccgtcacg gccgctacct aacggcggct gccattttca ggggtcgcat
     1021 gcccatgagg gaggtggatg aacaaatgtt caacattcaa gataagaaca gcagttactt
     1081 tgctgactgg ctccccaaca acgtaaaaac agccgtctgt gacatcccac cccgggggct
     1141 aaaaatgtca gccaccttca ttgggaataa tacggccatc caggaactct tcaagcgtgt
     1201 ctcagagcag tttacagcaa tgttcaggcg caaggccttc ctccactggt acacgggcga
     1261 gggcatggat gagatggaat tcaccgaggc cgagagcaac atgaacgacc tggtgtctga
     1321 atatcagcaa tatcaggatg ccacggccga ggaggaggag gatgaggagt atgccgagga
     1381 ggaggtggcc tagaactctc cttttctagg taaagggggg aagcagtgtg gattctttac
     1441 tgtgttctga cagccatgtg tcactatacg cttgttaatt tgtgtcttca catctcctgc
     1501 tgcgttttaa agcattttta tagtatgcgg ttttgactaa taaagtattc tcacagcatc
     1561 tg
//
