LOCUS       NM_001303457            3799 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens TELO2 interacting protein 1 (TTI1), transcript variant
            2, mRNA.
ACCESSION   NM_001303457 XM_005260621
VERSION     NM_001303457.2
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 3799)
  AUTHORS   Chang,Q., Zhou,X., Mao,H., Feng,J., Wu,X., Zhang,Z. and Hu,Z.
  TITLE     ALKBH5 promotes hepatocellular carcinoma cell proliferation,
            migration and invasion by regulating TTI1 expression
  JOURNAL   Biomol Biomed 24 (5), 1216-1230 (2024)
   PUBMED   38501918
  REMARK    GeneRIF: ALKBH5 promotes hepatocellular carcinoma cell
            proliferation, migration and invasion by regulating TTI1
            expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3799)
  AUTHORS   Serey-Gaut,M., Cortes,M., Makrythanasis,P., Suri,M., Taylor,A.M.R.,
            Sullivan,J.A., Asleh,A.N., Mitra,J., Dar,M.A., McNamara,A.,
            Shashi,V., Dugan,S., Song,X., Rosenfeld,J.A., Cabrol,C.,
            Iwaszkiewicz,J., Zoete,V., Pehlivan,D., Akdemir,Z.C., Roeder,E.R.,
            Littlejohn,R.O., Dibra,H.K., Byrd,P.J., Stewart,G.S.,
            Geckinli,B.B., Posey,J., Westman,R., Jungbluth,C., Eason,J.,
            Sachdev,R., Evans,C.A., Lemire,G., VanNoy,G.E., O'Donnell-Luria,A.,
            Mau-Them,F.T., Juven,A., Piard,J., Nixon,C.Y., Zhu,Y., Ha,T.,
            Buckley,M.F., Thauvin,C., Essien Umanah,G.K., Van Maldergem,L.,
            Lupski,J.R., Roscioli,T., Dawson,V.L., Dawson,T.M. and
            Antonarakis,S.E.
  TITLE     Bi-allelic TTI1 variants cause an autosomal-recessive
            neurodevelopmental disorder with microcephaly
  JOURNAL   Am J Hum Genet 110 (3), 499-515 (2023)
   PUBMED   36724785
  REMARK    GeneRIF: Bi-allelic TTI1 variants cause an autosomal-recessive
            neurodevelopmental disorder with microcephaly.
REFERENCE   3  (bases 1 to 3799)
  AUTHORS   Zhang,L.X., Yang,X., Wu,Z.B., Liao,Z.M., Wang,D.G., Chen,S.W.,
            Lu,F., Wu,Y.B. and Zhu,S.Q.
  TITLE     TTI1 promotes non-small-cell lung cancer progression by regulating
            the mTOR signaling pathway
  JOURNAL   Cancer Sci 114 (3), 855-869 (2023)
   PUBMED   36403197
  REMARK    GeneRIF: TTI1 promotes non-small-cell lung cancer progression by
            regulating the mTOR signaling pathway.
REFERENCE   4  (bases 1 to 3799)
  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   5  (bases 1 to 3799)
  AUTHORS   Rao,F., Cha,J., Xu,J., Xu,R., Vandiver,M.S., Tyagi,R., Tokhunts,R.,
            Koldobskiy,M.A., Fu,C., Barrow,R., Wu,M., Fiedler,D., Barrow,J.C.
            and Snyder,S.H.
  TITLE     Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death
            pathway by regulating CK2 phosphorylation of Tti1/Tel2
  JOURNAL   Mol Cell 54 (1), 119-132 (2014)
   PUBMED   24657168
  REMARK    GeneRIF: IP7, formed by IP6K2, binds CK2 to enhance its
            phosphorylation of the Tti1/Tel2 complex, thereby stabilizing
            DNA-PKcs and ATM. This process stimulates p53 phosphorylation at
            serine 15 to activate the cell death program.
            Erratum:[Mol Cell. 2020 Aug 20;79(4):702. doi:
            10.1016/j.molcel.2020.07.021.. PMID: 32822581]
REFERENCE   6  (bases 1 to 3799)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3799)
  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   8  (bases 1 to 3799)
  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
            checkpoin
REFERENCE   9  (bases 1 to 3799)
  AUTHORS   Kaizuka,T., Hara,T., Oshiro,N., Kikkawa,U., Yonezawa,K.,
            Takehana,K., Iemura,S., Natsume,T. and Mizushima,N.
  TITLE     Tti1 and Tel2 are critical factors in mammalian target of rapamycin
            complex assembly
  JOURNAL   J Biol Chem 285 (26), 20109-20116 (2010)
   PUBMED   20427287
  REMARK    GeneRIF: Data show that that knockdown of either Tti1 or Tel2
            causes disassembly of mTORC1 and mTORC2.
REFERENCE   10 (bases 1 to 3799)
  AUTHORS   Izumi,N., Yamashita,A., Iwamatsu,A., Kurata,R., Nakamura,H.,
            Saari,B., Hirano,H., Anderson,P. and Ohno,S.
  TITLE     AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and
            function in nonsense-mediated mRNA decay
  JOURNAL   Sci Signal 3 (116), ra27 (2010)
   PUBMED   20371770
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA652320.1, BC013755.1 and BU684997.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001303457.1.
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR compared to variant 1. Variants 1 and 2 encode the same
            isoform.
            
            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 :: AK308164.1, SRR1803611.80270.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373447.8/ ENSP00000362546.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                DA652320.1         13-47
            36-3557             BC013755.1         1-3522
            3558-3799           BU684997.1         18-259              c
FEATURES             Location/Qualifiers
     source          1..3799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     gene            1..3799
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /note="TELO2 interacting protein 1"
                     /db_xref="GeneID:9675"
                     /db_xref="HGNC:HGNC:29029"
                     /db_xref="MIM:614425"
     exon            1..53
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /inference="alignment:Splign:2.1.0"
     exon            54..2396
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..3364
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /note="smg-10 homolog, nonsense mediated mRNA decay
                     factor; TEL2-interacting protein 1 homolog; Tel two
                     interacting protein 1"
                     /codon_start=1
                     /product="TELO2-interacting protein 1 homolog"
                     /protein_id="NP_001290386.1"
                     /db_xref="CCDS:CCDS13300.1"
                     /db_xref="GeneID:9675"
                     /db_xref="HGNC:HGNC:29029"
                     /db_xref="MIM:614425"
                     /translation="MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSA
                     LQELQQYILFPLRFTLKTPGPKRERLIQSVVECLTFVLSSTCVKEQELLQELFSELSA
                     CLYSPSSQKPAAVSEELKLAVIQGLSTLMHSAYGDIILTFYEPSILPRLGFAVSLLLG
                     LAEQEKSKQIKIAALKCLQVLLLQCDCQDHPRSLDELEQKQLGDLFASFLPGISTALT
                     RLITGDFKQGHSIVVSSLKIFYKTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYRE
                     ADWVKKTGDKLTILIKKIIECVSVHPHWKVRLELVELVEDLLLKCSQSLVECAGPLLK
                     ALVGLVNDESPEIQAQCNKVLRHFADQKVVVGNKALADILSESLHSLATSLPRLMNSQ
                     DDQGKFSTLSLLLGYLKLLGPKINFVLNSVAHLQRLSKALIQVLELDVADIKIVEERR
                     WNSDDLNASPKTSATQPWNRIQRRYFRFFTDERIFMLLRQVCQLLGYYGNLYLLVDHF
                     MELYHQSVVYRKQAAMILNELVTGAAGLEVEDLHEKHIKTNPEELREIVTSILEEYTS
                     QENWYLVTCLETEEMGEELMMEHPGLQAITSGEHTCQVTSFLAFSKPSPTICSMNSNI
                     WQICIQLEGIGQFAYALGKDFCLLLMSALYPVLEKAGDQTLLISQVATSTMMDVCRAC
                     GYDSLQHLINQNSDYLVNGISLNLRHLALHPHTPKVLEVMLRNSDANLLPLVADVVQD
                     VLATLDQFYDKRAASFVSVLHALMAALAQWFPDTGNLGHLQEQSLGEEGSHLNQRPAA
                     LEKSTTTAEDIEQFLLNYLKEKDVADGNVSDFDNEEEEQSVPPKVDENDTRPDVEPPL
                     PLQIQIAMDVMERCIHLLSDKNLQIRLKVLDVLDLCVVVLQSHKNQLLPLAHQAWPSL
                     VHRLTRDAPLAVLRAFKVLRTLGSKCGDFLRSRFCKDVLPKLAGSLVTQAPISARAGP
                     VYSHTLAFKLQLAVLQGLGPLCERLDLGEGDLNKVADACLIYLSVKQPVKLQEAARSV
                     FLHLMKVDPDSTWFLLNELYCPVQFTPPHPSLHPVQLHGASGQQNPYTTNVLQLLKEL
                     Q"
     exon            2397..2597
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /inference="alignment:Splign:2.1.0"
     exon            2598..2746
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /inference="alignment:Splign:2.1.0"
     exon            2747..2887
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /inference="alignment:Splign:2.1.0"
     exon            2888..3092
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /inference="alignment:Splign:2.1.0"
     exon            3093..3180
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /inference="alignment:Splign:2.1.0"
     exon            3181..3799
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3772..3777
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /note="hexamer: AATAAA"
     polyA_site      3799
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; NEDMIM; smg-10"
                     /note="major polyA site"
ORIGIN      
        1 acttccggcg aggcagagga ggcgggagag tgagagaaag gctggaagac gagcctgcag
       61 gatgtttcct caatgagggg aaggctgctg cacaatggca gtttttgata ctcctgagga
      121 ggcctttggt gtcttacgtc cagtctgtgt tcagctcaca aagacccaga cagtggagaa
      181 tgtggagcat ctgcagacac gactacaagc tgtgagtgac agtgcccttc aggaacttca
      241 gcagtacatc ctcttccctc tgcgatttac cctgaagacc ccaggtccca aaagagagcg
      301 tttgatccaa agtgtggtgg aatgcctcac atttgtcctt tcttcaacat gtgtgaaaga
      361 acaggagctt ctccaggaac tcttttcaga actctctgct tgtctgtatt cacccagctc
      421 ccaaaaacct gcggctgtgt ccgaggagtt gaaattggct gtgatccagg gacttagcac
      481 attaatgcac tcagcttatg gggacatcat tctgactttt tatgagccct ccattctgcc
      541 acgtttagga tttgctgtat ctttactgtt aggccttgca gaacaggaga aatcaaagca
      601 aattaaaatt gctgccttaa aatgtttaca ggttctactc ttgcagtgtg attgtcagga
      661 ccatccaagg tcattggatg aacttgaaca aaagcagctg ggggatttgt ttgcctcttt
      721 tttacctgga atctcaactg cactgaccag gcttatcaca ggagacttta aacaaggtca
      781 cagcattgtc gtatcttccc taaagatctt ttacaagaca gtgagcttca ttatggctga
      841 tgaacagctc aaaagaatct caaaggtcca agcaaaacct gcagttgagc acagagtagc
      901 agagctgatg gtttacaggg aagcagattg ggtaaaaaag actggcgaca agttgactat
      961 ccttattaaa aagataattg agtgtgtttc tgttcaccca cactggaagg tgagactgga
     1021 actggtagaa cttgtggagg accttctttt gaagtgcagt caatcattgg tcgaatgtgc
     1081 tggtcccctt ctgaaggcct tagtgggact agtaaatgat gagagtcctg aaatccaagc
     1141 ccagtgcaat aaagttctga gacattttgc agatcaaaaa gtagtggtgg gcaacaaagc
     1201 cctcgctgac atcttgtcag aaagcctgca ttcccttgcc acatctcttc ctcgcctaat
     1261 gaactcccaa gatgaccagg gcaaattctc tactctttcc ttgttacttg gttatctgaa
     1321 actcttgggc ccaaaaataa actttgtcct caactctgtg gcccatctcc agcggctttc
     1381 caaagcactc atccaagttc tagagctaga cgtggctgac atcaagattg ttgaggaacg
     1441 gcgttggaac tctgatgatc tgaatgcttc tccaaagacc tcagccacac agccttggaa
     1501 ccgcatccag aggagatatt tccgcttctt cactgatgag agaatcttca tgctcttgag
     1561 gcaggtttgt cagctacttg gttattatgg gaatctttat ttgcttgtgg atcactttat
     1621 ggaactttac catcaatctg tggtttaccg gaagcaagct gccatgatcc ttaatgaact
     1681 ggttacaggg gctgctgggc tggaggttga ggatcttcac gaaaaacata ttaaaacaaa
     1741 cccagaagaa ctgagagaga ttgtgacatc tatacttgaa gaatacacaa gtcaagaaaa
     1801 ttggtatttg gttacctgtc ttgaaactga ggaaatggga gaggagctga tgatggagca
     1861 cccaggcctc caagccatca cgtctggtga acacacctgc caagttacat cttttctagc
     1921 cttctcaaag ccaagtccca ctatttgctc catgaacagt aacatctggc aaatatgcat
     1981 tcagttggaa ggaattggcc agtttgcata tgcactagga aaagacttct gtttgctctt
     2041 gatgtcagcc ctttatccag tactggagaa ggctggagac caaaccctac tcattagtca
     2101 ggtggctacc agcaccatga tggacgtttg ccgtgcttgt ggctacgact ccctgcagca
     2161 cctgatcaat caaaattcag actatttagt gaatgggatc tctttaaatc tgcgtcatct
     2221 ggctctgcat cctcataccc caaaggtcct ggaagtcatg ctgcggaact cagatgctaa
     2281 cctgcttcct ttggtggcag atgtggttca agatgtcttg gccaccctgg accaatttta
     2341 cgataagaga gctgcttcct ttgtcagcgt tctgcatgct ctgatggcag cattagccca
     2401 gtggttccca gacacaggta atcttgggca cctccaagag caaagtttag gagaagaggg
     2461 aagtcatttg aaccaaagac cagcagctct tgagaagagc accaccacag ctgaagacat
     2521 cgaacagttt ttgctgaact acctcaaaga gaaggatgtg gcagatggaa atgtctcgga
     2581 ttttgataat gaagaagagg aacagtcagt ccctcccaaa gtggatgaga atgacacccg
     2641 tccagatgtg gagccaccac tgccattgca gatccaaata gccatggacg tgatggaacg
     2701 ctgcatccac ttgttgtcag ataaaaatct gcaaatccgc ctgaaggtct tggatgtgct
     2761 ggatctgtgt gtggttgttc ttcagtccca caaaaaccag ctgcttccct tggctcatca
     2821 ggcctggccc tcgctcgttc accgactcac acgggacgcc cccctggcag tgcttagagc
     2881 cttcaaggtt ttacgtaccc tgggaagcaa gtgtggtgac tttcttcgca gccggttctg
     2941 caaagatgtc ctgccaaagc tggctggctc cctagtcacc caggccccca tcagtgccag
     3001 ggctggacca gtttactcgc acacgctggc cttcaagttg cagctggctg tcttacaggg
     3061 cctgggcccc ctctgtgaga gactggacct aggtgagggt gacctgaata aagtggctga
     3121 tgcctgcttg atttacctca gtgtcaaaca gcccgtgaaa ttacaagagg ctgccaggag
     3181 cgtcttcctc cacttgatga aggtggaccc agactccacc tggttcctcc tgaacgagct
     3241 ttactgcccc gtgcagttca cacctcccca ccccagcctc caccctgtgc agctgcacgg
     3301 ggccagcggg cagcagaacc cctacacgac caacgtgctc cagctgctca aggagctgca
     3361 gtgaccctgc tcccccacca cagaggccac cgatccctcc cctactgcca gccagaagct
     3421 gggctgaccc caccccggcc ataggcggtg gcagcggcag cagagaaggt gaattagtta
     3481 gccaatcgat ttataaattg atcgatcaca caactgctta gaaatggatt gaaggaaagt
     3541 agctgactat tatttatgtt tcataccttg tgttgtcaag tgacattgtc tggtggctct
     3601 aagggtttaa ccccttagcc taccatctct atagccccag ctccctcaca ggccacacac
     3661 acacacacac aagaggtcag ttcccctcca tctgcataca cctccctgtc ttcaaataat
     3721 gagatggaac taatttgttt tacctaacct gatctttggg aaacaaacgg aaataaagac
     3781 acttcttgga tgaaaagta
//
