LOCUS       NM_001136505            2746 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens telomere repeat binding bouquet formation protein 1
            (TERB1), mRNA.
ACCESSION   NM_001136505 XM_001130007
VERSION     NM_001136505.2
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 2746)
  AUTHORS   Yalcin,Z., Liang,M., Abdelrazek,I.M., Friedrich,C., Bareke,E.,
            Nabil,A., Tuttelmann,F., Majewski,J., Abdalla,E., Tan,S.L. and
            Slim,R.
  TITLE     A report of two homozygous TERB1 protein-truncating variants in two
            unrelated women with primary infertility
  JOURNAL   J Assist Reprod Genet 41 (3), 751-756 (2024)
   PUBMED   38277113
  REMARK    GeneRIF: A report of two homozygous TERB1 protein-truncating
            variants in two unrelated women with primary infertility.
REFERENCE   2  (bases 1 to 2746)
  AUTHORS   Salas-Huetos,A., Tuttelmann,F., Wyrwoll,M.J., Kliesch,S.,
            Lopes,A.M., Goncalves,J., Boyden,S.E., Woste,M., Hotaling,J.M.,
            Nagirnaja,L., Conrad,D.F., Carrell,D.T. and Aston,K.I.
  CONSRTM   GEMINI Consortium
  TITLE     Disruption of human meiotic telomere complex genes TERB1, TERB2 and
            MAJIN in men with non-obstructive azoospermia
  JOURNAL   Hum Genet 140 (1), 217-227 (2021)
   PUBMED   33211200
  REMARK    GeneRIF: Disruption of human meiotic telomere complex genes TERB1,
            TERB2 and MAJIN in men with non-obstructive azoospermia.
            Erratum:[Hum Genet. 2021 Jan;140(1):229. doi:
            10.1007/s00439-020-02244-1.. PMID: 33377991]
REFERENCE   3  (bases 1 to 2746)
  AUTHORS   Wang,Y., Chen,Y., Chen,J., Wang,L., Nie,L., Long,J., Chang,H.,
            Wu,J., Huang,C. and Lei,M.
  TITLE     The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the
            nuclear envelope
  JOURNAL   Nat Commun 10 (1), 564 (2019)
   PUBMED   30718482
  REMARK    GeneRIF: The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to
            the nuclear envelope
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2746)
  AUTHORS   Dunce,J.M., Milburn,A.E., Gurusaran,M., da Cruz,I., Sen,L.T.,
            Benavente,R. and Davies,O.R.
  TITLE     Structural basis of meiotic telomere attachment to the nuclear
            envelope by MAJIN-TERB2-TERB1
  JOURNAL   Nat Commun 9 (1), 5355 (2018)
   PUBMED   30559341
  REMARK    GeneRIF: complementary structured illumination microscopy studies
            and biochemical findings reveal a telomere attachment mechanism in
            which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then
            displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind
            telomeric DNA and form a mature attachment plate.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2746)
  AUTHORS   Long,J., Huang,C., Chen,Y., Zhang,Y., Shi,S., Wu,L., Liu,Y.,
            Liu,C., Wu,J. and Lei,M.
  TITLE     Telomeric TERB1-TRF1 interaction is crucial for male meiosis
  JOURNAL   Nat Struct Mol Biol 24 (12), 1073-1080 (2017)
   PUBMED   29083416
REFERENCE   6  (bases 1 to 2746)
  AUTHORS   Shibuya,H., Ishiguro,K. and Watanabe,Y.
  TITLE     The TRF1-binding protein TERB1 promotes chromosome movement and
            telomere rigidity in meiosis
  JOURNAL   Nat Cell Biol 16 (2), 145-156 (2014)
   PUBMED   24413433
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC044802.6.
            
            On Aug 7, 2019 this sequence version replaced NM_001136505.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968968
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000433154.6/ ENSP00000463762.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-117               AC044802.6         70811-70927         c
            118-194             AC044802.6         70320-70396         c
            195-257             AC044802.6         66111-66173         c
            258-368             AC044802.6         60252-60362         c
            369-497             AC044802.6         59938-60066         c
            498-626             AC044802.6         57512-57640         c
            627-687             AC044802.6         55568-55628         c
            688-803             AC044802.6         55357-55472         c
            804-926             AC044802.6         55129-55251         c
            927-1079            AC044802.6         48206-48358         c
            1080-1211           AC044802.6         46546-46677         c
            1212-1337           AC044802.6         44461-44586         c
            1338-1498           AC044802.6         41932-42092         c
            1499-1845           AC044802.6         39306-39652         c
            1846-1910           AC044802.6         37447-37511         c
            1911-2006           AC044802.6         36758-36853         c
            2007-2156           AC044802.6         28484-28633         c
            2157-2222           AC044802.6         28116-28181         c
            2223-2746           AC044802.6         23983-24506         c
FEATURES             Location/Qualifiers
     source          1..2746
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..2746
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /note="telomere repeat binding bouquet formation protein
                     1"
                     /db_xref="GeneID:283847"
                     /db_xref="HGNC:HGNC:26675"
                     /db_xref="MIM:617332"
     exon            1..117
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            118..194
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            195..257
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..2410
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /note="coiled-coil domain-containing protein 79"
                     /codon_start=1
                     /product="telomere repeats-binding bouquet formation
                     protein 1"
                     /protein_id="NP_001129977.1"
                     /db_xref="GeneID:283847"
                     /db_xref="HGNC:HGNC:26675"
                     /db_xref="MIM:617332"
                     /translation="MESEDTKKTQEMKTDLNLLLECLKYQMDNAFSQKEALVTIHSIC
                     QQNSNASVYFREIGGLMFVKNLAKSSEHSMVKEAALYTLGAIAEKNVYCQQTLCTSEL
                     FEDLTWFLSNDSNINLKRMSVYVILVLVSNNRTGQTLVRETGCITVLSRLFRTVISKH
                     ELDLSDKNVFQSYQLWSSVCSTLCVCVNNPQNDENQMFCCSLFPHANEWLKNCTTPEI
                     IRPICSFIGLTLANNTYVQKYFVSVGGLDVLSQVLMQLESDSHETLSSAKLAVVVTKT
                     VDACIADNPTFGIVLSKYHIVSKLLALLLHESLDSGEKFSIMLTLGHCTEDCEENQYD
                     LFKNNGLPLMIQALTESQNEELNKAATFVLHNCKKITEKLSLSLGEYPFDENETQQLK
                     DISVKENNLEEHWRKAKEILHRIEQLEREGNEEEIQRENYQDNISSMNISIQNTWKHL
                     HADRIGRGSKAEDEDKSHSRQLQSYKSHGVMSKACTNDDQMKTPLKSANPVHACYRES
                     EQNKTLYKAKSSCNQNLHEETTFEKNFVSQSSDHVFKHPVHIAKNIKQQLPVTDPFTL
                     CSDIINKEVVSFLATPSCSEMLTYRCSGCIAVEKSLNSRNFSKLLHSCPYQCDRHKVI
                     VEAEDRYKSELRKSLICNKKILLTPRRRQRLSNESTTPGGIKKRRIRKNFTEEEVNYL
                     FNGVKKMGNHWNSILWSFPFQQGRKAVDLAHKYHKLTKHPTCAAS"
     exon            258..368
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            369..497
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            498..626
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            627..687
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            688..803
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            804..926
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1079
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1211
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1337
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1498
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            1499..1845
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            1846..1910
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            1911..2006
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            2007..2156
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            2157..2222
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     exon            2223..2746
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2531..2536
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /note="hexamer: ATTAAA"
     polyA_site      2556
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /note="major polyA site"
     regulatory      2729..2734
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /note="hexamer: AATAAA"
     polyA_site      2746
                     /gene="TERB1"
                     /gene_synonym="CCDC79; SPGF60"
                     /note="major polyA site"
ORIGIN      
        1 gtgcgtcgtg gcaggtgagc ggtgatgaag aaagggcgga agctcccgct tgagggtaga
       61 cgccacggcc tccgctcccg cgcgttgttg tcctgcctta ccgcgcttgg aaactctgac
      121 ttgcgagccc tggtcagaga ggagcctgga ggggccacct aagctctgca caaggaattc
      181 atccaactct gtagacaaaa tataaggaaa aagaatatag acaagcatgg aaagtgaaga
      241 cacaaagaaa acacaagaaa tgaagactga cctgaactta ttattggagt gtctaaagta
      301 tcaaatggac aatgcttttt cacaaaagga agctttggtc actattcatt caatttgtca
      361 acaaaacagt aatgcaagtg tttattttcg ggaaattggt ggtttgatgt ttgtaaaaaa
      421 tcttgcaaag tcaagtgaac atagcatggt aaaagaagca gccttatata cattaggagc
      481 tattgcagag aaaaatgttt actgtcagca gactttgtgt acttcagagt tgtttgaaga
      541 cttaacttgg ttcttatcta atgattcaaa cataaatttg aaaagaatgt ctgtttatgt
      601 tattttggtt ctggtttcaa ataataggac cggacaaaca cttgtgagag aaacaggttg
      661 tattacagtt ctgtcacggt tattcaggac agttatttca aaacatgagt tggatttgtc
      721 agataaaaat gttttccaga gttatcagtt gtggtcttca gtgtgtagta ctctgtgtgt
      781 ctgtgtcaac aatcctcaaa atgatgagaa tcaaatgttt tgctgttccc tttttccaca
      841 tgctaatgaa tggctaaaaa attgcacgac acctgagata attcgcccta tttgctcatt
      901 tattggactc actcttgcaa ataacacata tgttcagaaa tacttcgtat ctgtgggcgg
      961 actggatgta ttgtctcaag ttctcatgca gctggaatct gattcacatg agactctttc
     1021 cagtgctaaa cttgcagtgg ttgtgacgaa gactgtggat gcatgcattg ctgataatcc
     1081 tacttttggg atagtactct ccaagtacca cattgtttct aaacttctgg cattactgct
     1141 tcatgaaagt ctggattcag gagaaaaatt tagcatcatg cttactcttg gtcattgcac
     1201 agaggattgt gaggaaaatc agtatgacct ttttaaaaac aatgggcttc cactcatgat
     1261 tcaagcctta actgaatcgc agaatgagga actgaacaaa gctgccacat ttgtgcttca
     1321 caactgcaaa aaaattactg agaaattatc tctaagtcta ggagaatatc cttttgatga
     1381 aaatgaaaca cagcaattaa aggacataag tgtgaaggag aataatcttg aagagcactg
     1441 gaggaaagca aaggaaattc tacacagaat agaacagctt gaaagagaag gaaatgagga
     1501 agaaatacaa agagaaaact atcaggataa tatttcatct atgaacataa gtattcagaa
     1561 tacatggaaa catctccatg cagatcggat tggtcgaggt agcaaagcag aagatgagga
     1621 taaaagccat tctagacagt tacagagtta taagtcccat ggagtcatgt ctaaagcatg
     1681 tacaaatgat gaccaaatga agacaccgtt aaagagcgca aatccagtcc atgcttgtta
     1741 cagggagagt gagcaaaata agactttata taaagccaag tcaagctgca atcaaaactt
     1801 acatgaagaa actacttttg aaaagaattt tgtttctcaa tcaagtgacc atgtttttaa
     1861 acacccagtt cacattgcca aaaatataaa gcagcagtta ccagtaacag atccatttac
     1921 attatgttca gatataataa ataaagaagt agtcagtttt ctagcaactc ccagttgttc
     1981 cgaaatgttg acgtataggt gctcaggttg catagcagta gaaaaatccc tgaatagccg
     2041 aaactttagc aagctcttgc actcttgccc ataccaatgt gatcgtcaca aagtcattgt
     2101 ggaagctgaa gacagatata aaagtgaact aaggaaatca cttatctgta acaaaaaaat
     2161 tctgctgacc ccacgtagaa gacaacgact cagtaatgaa tctactaccc ctggaggaat
     2221 aaaaaaaaga agaattcgca aaaactttac tgaagaagaa gtaaattacc ttttcaatgg
     2281 agttaagaaa atgggaaatc actggaattc aattttgtgg tctttcccct ttcagcaagg
     2341 acggaaggct gtggaccttg ctcacaaata ccacaagctg accaaacacc ccacgtgtgc
     2401 agcttcttga ttgaaagaag actgtcagtt tttagtttgg attcttaaaa tacagtgcct
     2461 tgaaagatac atttaaagta tttttctaaa ctctcatgag aaggaatgtg gaaatgagga
     2521 tacagttttc attaaacagt ttttgtgatg ctgaaactca tcaaattaca atgatttata
     2581 aagcaaatat atcatcagtg tacagattag taagaaaatt ccttcataag atcaaacatt
     2641 tgtttaggaa tatgctttta tttttcctta agcttaaagg acacagagaa aagaattagc
     2701 ctttaaatgt tatttgacat tatattgcaa taaatactat gtggga
//
