LOCUS       NM_001102401            2131 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant
            1, mRNA.
ACCESSION   NM_001102401
VERSION     NM_001102401.4
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 2131)
  AUTHORS   Kim,Y., Park,J., Joo,S.Y., Kim,B.G., Jo,A., Lee,H. and Cho,Y.
  TITLE     Structure of the Human TELO2-TTI1-TTI2 Complex
  JOURNAL   J Mol Biol 434 (2), 167370 (2022)
   PUBMED   34838521
  REMARK    GeneRIF: Structure of the Human TELO2-TTI1-TTI2 Complex.
REFERENCE   2  (bases 1 to 2131)
  AUTHORS   Langouet,M., Saadi,A., Rieunier,G., Moutton,S., Siquier-Pernet,K.,
            Fernet,M., Nitschke,P., Munnich,A., Stern,M.H., Chaouch,M. and
            Colleaux,L.
  TITLE     Mutation in TTI2 reveals a role for triple T complex in human brain
            development
  JOURNAL   Hum Mutat 34 (11), 1472-1476 (2013)
   PUBMED   23956177
  REMARK    GeneRIF: The findings emphasises the role of the TTI2 gene in the
            etiology of intellectual disability.
REFERENCE   3  (bases 1 to 2131)
  AUTHORS   Takai,H., Xie,Y., de Lange,T. and Pavletich,N.P.
  TITLE     Tel2 structure and function in the Hsp90-dependent maturation of
            mTOR and ATR complexes
  JOURNAL   Genes Dev 24 (18), 2019-2030 (2010)
   PUBMED   20801936
REFERENCE   4  (bases 1 to 2131)
  AUTHORS   Hurov,K.E., Cotta-Ramusino,C. and Elledge,S.J.
  TITLE     A genetic screen identifies the Triple T complex required for DNA
            damage signaling and ATM and ATR stability
  JOURNAL   Genes Dev 24 (17), 1939-1950 (2010)
   PUBMED   20810650
  REMARK    GeneRIF: TTI1 and TTI2 protect cells from spontaneous DNA damage,
            and are required for the establishment of the intra-S and G2/M
            checkpoint.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091144.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 21, 2019 this sequence version replaced NM_001102401.3.
            
            Summary: This gene encodes a regulator of the DNA damage response.
            The protein is a component of the Triple T complex (TTT) which also
            includes telomere length regulation protein and TELO2 interacting
            protein 1. The TTT complex is involved in cellular resistance to
            DNA damage stresses and may act as a regulator of
            phosphoinositide-3-kinase-related protein kinase (PIKK) abundance.
            [provided by RefSeq, May 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC066935.1, SRR14038192.3120988.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000431156.7/ ENSP00000411169.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                AC091144.12        20827-20880
            55-800              AC091144.12        21250-21995
            801-987             AC091144.12        24030-24216
            988-1080            AC091144.12        26641-26733
            1081-1268           AC091144.12        30027-30214
            1269-1412           AC091144.12        30390-30533
            1413-1575           AC091144.12        33472-33634
            1576-2131           AC091144.12        34685-35240
FEATURES             Location/Qualifiers
     source          1..2131
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p12"
     gene            1..2131
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /note="TELO2 interacting protein 2"
                     /db_xref="GeneID:80185"
                     /db_xref="HGNC:HGNC:26262"
                     /db_xref="MIM:614426"
     exon            1..54
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /inference="alignment:Splign:2.1.0"
     exon            55..800
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..1680
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /note="isoform 1 is encoded by transcript variant 1; Tel2
                     interacting protein 2 homolog"
                     /codon_start=1
                     /product="TELO2-interacting protein 2 isoform 1"
                     /protein_id="NP_001095871.1"
                     /db_xref="CCDS:CCDS6090.1"
                     /db_xref="GeneID:80185"
                     /db_xref="HGNC:HGNC:26262"
                     /db_xref="MIM:614426"
                     /translation="MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARR
                     GNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPETLGQVAKALEKYAAPSKEEEGG
                     GDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE
                     QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKES
                     WKNNPAIKHVFSWTLQQVTRPWLSQHLERVLPASLVISDDYQTENKILGVHCLHHIVL
                     NVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFPILEKTLHWKGDGAR
                     PTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYL
                     EVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESV
                     KSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT
                     "
     exon            801..987
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1080
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1268
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1412
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1575
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..2131
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1749..1754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /note="hexamer: AAGAAA"
     polyA_site      1775
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /note="major polyA site"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /note="hexamer: AATAAA"
     polyA_site      1899
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /note="major polyA site"
     regulatory      2016..2021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /note="hexamer: TATAAA"
     polyA_site      2042
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
     regulatory      2092..2097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
                     /note="hexamer: AATAAA"
     polyA_site      2131
                     /gene="TTI2"
                     /gene_synonym="C8orf41; MRT39"
ORIGIN      
        1 aatatgagct aggtccggat cctgttagac accggcgggc gcgagccgtt gcagttctct
       61 ttgggtgatc gctccttccc tcttcaacgg atccctcccc gcctccatcc tcgttctgtg
      121 ggagagacca gccttctggt gctgcagtca ggaatggagc ttgacagcgc tctggaagcc
      181 ccatcgcagg aagactctaa tttgtccgag gagttgtctc actccgcctt tggacaggcc
      241 ttctccaaga ttttacactg tcttgcccgc ccggaggcac gacgaggcaa tgtaaaagat
      301 gcagttctta aagacctcgg tgatctaata gaagccacag aatttgatag gttatttgag
      361 gggactggtg cacggctccg cggaatgccg gagacactgg ggcaggtagc aaaagccctg
      421 gagaagtatg cagccccctc caaggaggag gaaggtggag gtgatgggca ctccgaagcg
      481 gccgagaaag cagcccaagt tgggttactg tttcttaaac tgttagggaa agttgagact
      541 gctaagaatt ccctggtcgg ccctgcatgg cagacgggcc tgcatcactt ggcaggaccc
      601 gtttatattt ttgccatcac acacagcttg gagcaaccat ggaccactcc gagatctcgg
      661 gaagttgcta gggaggtgct cacctcactg cttcaagtta ctgaatgcgg ttctgtggca
      721 ggattcctac atggagaaaa tgaagatgag aaagggagac tttcggtgat actagggctt
      781 ctcaaacccg acttgtataa ggaatcctgg aagaataacc ctgccatcaa acatgttttc
      841 tcatggactc tgcaacaggt cactcggccc tggctgagcc agcatctgga aagggtactt
      901 cccgcatcat tggtcatttc agatgactat cagactgaga acaaaatcct gggtgtacac
      961 tgtctccatc acattgtgct taatgtgcca gctgctgatt tgctccagta taacagagcc
     1021 caggtcctat accatgccat ttccaaccac ctgtacacac cagagcacca cctcattcag
     1081 gctgtgctcc tgtgtctgct ggatttattc cccatcctgg agaaaaccct gcactggaaa
     1141 ggagatggag ctcgacccac cacccattgt gatgaggtcc tgcggctgat cctgacccac
     1201 atggagccag agcaccgcct tcttttacgc aggacctacg caagaaacct gccggctttc
     1261 gtgaacaggt tggggatcct aactgtccgg cacttaaaga ggctggagag agtcatcatt
     1321 ggttatctgg aggtttatga tggacctgag gaggaagcta gactgaagat attggaaacc
     1381 ctaaaacttc tcatgcaaca tacttggccc agagtttcct gcagacttgt ggtcttactg
     1441 aaggccctct tgaaactgat ttgtgatgta gcaagggatc caaaccttac acctgagtct
     1501 gttaagagcg ccctgctaca ggaggccaca gactgcctga ttctcctgga ccgctgttct
     1561 caaggacggg taaagggtct cctggccaaa attccccaaa gctgtgaaga cagaaaagtg
     1621 gtgaactata tcagaaaagt gcagcaggtt tctgaaggcg caccctacaa tggaacttaa
     1681 gacttgtatt actttcccaa gaggaaagga ttttcttccc atcccaattt gtatgaatgg
     1741 agttatttaa gaaaaaaaga tatttttaca cgaaactttg taagtgaaag ctgctttttc
     1801 cttccttcct ttccttttac ctccataaga atagggaaag tagaacaaga aaaaattgaa
     1861 ctccttccat ttctaaataa agtttgggag aaaaaaggac accaagtaat gtagcattta
     1921 aaatttagaa atatttacat ccgtcatctc atcccagatt caagaactca tctgttaagt
     1981 ttctcgggca caagctgtta cttcaacaca tatgctataa aaacactctt gttcacaact
     2041 tagctttctt cactcactcc agatttcttg ccccactgac gtggcataaa taataaaaac
     2101 acaaatattg tgttcagtac aacacaaaag a
//
