LOCUS       NM_001099274            1801 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens TERF1 interacting nuclear factor 2 (TINF2), transcript
            variant 1, mRNA.
ACCESSION   NM_001099274
VERSION     NM_001099274.3
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 1801)
  AUTHORS   Zhang,Y., Wan,X., Yang,X., Liu,X., Huang,Q., Zhou,L., Zhang,S.,
            Liu,S., Xiong,Q., Wei,M., Qiu,L., Zhang,B. and Han,J.
  TITLE     eIF3i promotes colorectal cancer cell survival via augmenting PHGDH
            translation
  JOURNAL   J Biol Chem 299 (9), 105177 (2023)
   PUBMED   37611825
  REMARK    GeneRIF: eIF3i promotes colorectal cancer cell survival via
            augmenting PHGDH translation.
REFERENCE   2  (bases 1 to 1801)
  AUTHORS   Jensen,M.R., Jelsig,A.M., Gerdes,A.M., Holmich,L.R., Kainu,K.H.,
            Lorentzen,H.F., Hansen,M.H., Bak,M., Johansson,P.A., Hayward,N.K.,
            Van Overeem Hansen,T. and Wadt,K.A.W.
  TITLE     TINF2 is a major susceptibility gene in Danish patients with
            multiple primary melanoma
  JOURNAL   HGG Adv 4 (4), 100225 (2023)
   PUBMED   37646013
  REMARK    GeneRIF: TINF2 is a major susceptibility gene in Danish patients
            with multiple primary melanoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1801)
  AUTHORS   Storchova,R., Palek,M., Palkova,N., Veverka,P., Brom,T., Hofr,C.
            and Macurek,L.
  TITLE     Phosphorylation of TRF2 promotes its interaction with TIN2 and
            regulates DNA damage response at telomeres
  JOURNAL   Nucleic Acids Res 51 (3), 1154-1172 (2023)
   PUBMED   36651296
  REMARK    GeneRIF: Phosphorylation of TRF2 promotes its interaction with TIN2
            and regulates DNA damage response at telomeres.
REFERENCE   4  (bases 1 to 1801)
  AUTHORS   Koivuluoma,S., Vorimo,S., Mattila,T.M., Tervasmaki,A., Kumpula,T.,
            Kuismin,O., Winqvist,R., Moilanen,J., Mantere,T. and Pylkas,K.
  TITLE     Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer
            susceptibility
  JOURNAL   Fam Cancer 22 (1), 13-17 (2023)
   PUBMED   35590014
  REMARK    GeneRIF: Truncating TINF2 p.Tyr312Ter variant and inherited breast
            cancer susceptibility.
REFERENCE   5  (bases 1 to 1801)
  AUTHORS   Mignon-Ravix,C., Depetris,D., Delobel,B., Croquette,M.F. and
            Mattei,M.G.
  TITLE     A human interstitial telomere associates in vivo with specific TRF2
            and TIN2 proteins
  JOURNAL   Eur J Hum Genet 10 (2), 107-112 (2002)
   PUBMED   11938440
  REMARK    GeneRIF: Co-localises with the interstitial TTAGGG repeats in
            interstitial telomeres.
REFERENCE   6  (bases 1 to 1801)
  AUTHORS   Zhou,X.Z. and Lu,K.P.
  TITLE     The Pin2/TRF1-interacting protein PinX1 is a potent telomerase
            inhibitor
  JOURNAL   Cell 107 (3), 347-359 (2001)
   PUBMED   11701125
REFERENCE   7  (bases 1 to 1801)
  AUTHORS   Li,B., Oestreich,S. and de Lange,T.
  TITLE     Identification of human Rap1: implications for telomere evolution
  JOURNAL   Cell 101 (5), 471-483 (2000)
   PUBMED   10850490
REFERENCE   8  (bases 1 to 1801)
  AUTHORS   Kim,S.H., Kaminker,P. and Campisi,J.
  TITLE     TIN2, a new regulator of telomere length in human cells
  JOURNAL   Nat Genet 23 (4), 405-412 (1999)
   PUBMED   10581025
REFERENCE   9  (bases 1 to 1801)
  AUTHORS   Savage,S.A. and Niewisch,M.R.
  TITLE     Dyskeratosis Congenita and Related Telomere Biology Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301779
REFERENCE   10 (bases 1 to 1801)
  AUTHORS   Garcia,C.K. and Talbert,J.L.
  TITLE     Pulmonary Fibrosis Predisposition Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301408
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC019343.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001099274.2.
            
            Summary: This gene encodes one of the proteins of the shelterin, or
            telosome, complex which protects telomeres by allowing the cell to
            distinguish between telomeres and regions of DNA damage. The
            protein encoded by this gene is a critical part of shelterin; it
            interacts with the three DNA-binding proteins of the shelterin
            complex, and it is important for assembly of the complex. Mutations
            in this gene cause dyskeratosis congenita (DKC), an inherited bone
            marrow failure syndrome. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1), also known as TIN2L.
            
            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 :: BC019343.1, SRR1163658.30445.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267415.12/ ENSP00000267415.7
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1801              BC019343.1         10-1810
FEATURES             Location/Qualifiers
     source          1..1801
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..1801
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /note="TERF1 interacting nuclear factor 2"
                     /db_xref="GeneID:26277"
                     /db_xref="HGNC:HGNC:11824"
                     /db_xref="MIM:604319"
     exon            1..483
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             292..1647
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     TRF1-interacting nuclear protein 2; TERF1
                     (TRF1)-interacting nuclear factor 2"
                     /codon_start=1
                     /product="TERF1-interacting nuclear factor 2 isoform 1"
                     /protein_id="NP_001092744.1"
                     /db_xref="CCDS:CCDS41936.1"
                     /db_xref="GeneID:26277"
                     /db_xref="HGNC:HGNC:11824"
                     /db_xref="MIM:604319"
                     /translation="MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAV
                     APGLVRYRHHERLCMGLKAKVVVELILQGRPWAQVLKALNHHFPESGPIVRDPKATKQ
                     DLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYGEPFLAAMEKLLFEYLCQLEK
                     ALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLLPECSVTDSVNLAEPMEQN
                     PPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTR
                     GGHKERPTVMLFPFRNLGSPTQVISKPESKEEHAIYTADLAMGTRAASTGKSKSPCQT
                     LGGRALKENPVDLPATEQKENCLDCYMDPLRLSLLPPRARKPVCPPSLCSSVITIGDL
                     VLDSDEEENGQGEGKESLENYQKTKFDTLIPTLCEYLPPSGHGAIPVSSCDCRDSSRP
                     L"
     exon            484..588
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            589..690
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            691..798
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            799..895
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1352
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1420
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1512
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1801
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1779..1784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /note="hexamer: ATTAAA"
     polyA_site      1801
                     /gene="TINF2"
                     /gene_synonym="DKCA3; TIN2"
                     /note="major polyA site"
ORIGIN      
        1 gaggcaccct cgggctcgag acagcggcga cgtttaaagc tgagcgaccc agtgccactg
       61 gagacggtca gcttctccac tcaggctcct ccagcccgag ccagaagacc ccctccccca
      121 gaattctggg ggccgatgga agggagccga gtcagatcgc gaggtaccca gagccgacag
      181 accggagcga cagggagttg ccagaagccc cgcccctagg agtgatcgga aagcctcacc
      241 catccgggtg aggaacccgg agggaccgcc tccgggcgga gcccgccgac catggctacg
      301 cccctggtgg cgggtcccgc agctctacgc ttcgccgccg cggctagctg gcaggttgtg
      361 cgcggacgct gcgtggaaca ttttccgcga gtactggagt ttctgcgatc tctgcgcgct
      421 gttgcccctg gcttggttcg ctaccggcac cacgaacgcc tttgtatggg cctaaaggcc
      481 aaggtggtgg tggagctgat cctgcagggc cggccttggg cccaagtcct gaaagccctg
      541 aatcaccact ttccagaatc tggacctata gtgcgggatc ccaaggctac aaagcaggat
      601 ctgaggaaga ttttggaggc acaggaaact ttttaccagc aggtgaagca gctgtcagag
      661 gctcctgtgg atttggcctc gaagctgcag gaacttgaac aagagtatgg ggaacccttt
      721 ctggctgcca tggaaaagct gctttttgag tacttgtgtc agctggagaa agcactgcct
      781 acaccgcagg cacagcagct tcaggatgtg ctgagttgga tgcagcctgg agtctctatc
      841 acctcttctc ttgcctggag acaatatggt gtggacatgg ggtggctgct tccagagtgc
      901 tctgttactg actcagtgaa cctggctgag cccatggaac agaatcctcc tcagcaacaa
      961 agactagcac tccacaatcc cctgccaaaa gccaagcctg gcacacatct tcctcaggga
     1021 ccatcttcaa ggacgcaccc agaacctcta gctggccgac acttcaatct ggcccctcta
     1081 ggccgacgaa gagttcagtc ccaatgggcc tccactaggg gaggccataa ggagcgcccc
     1141 acagtcatgc tgtttccctt taggaatctc ggctcaccaa cccaggtcat atctaagcct
     1201 gagagcaagg aagaacatgc gatatacaca gcagacctag ccatgggcac aagagcagcc
     1261 tccactggga agtctaagag tccatgccag accctggggg gaagggctct gaaggagaac
     1321 ccagttgact tgcctgccac agagcaaaag gagaattgct tggattgcta catggacccc
     1381 ctgagactat cattattacc tcctagggcc aggaagccag tgtgtcctcc gtctctgtgc
     1441 agctccgtca ttaccatagg ggacttggtt ttagactctg atgaggaaga aaatggccag
     1501 ggggaaggaa aggaatctct ggaaaactat cagaagacaa agtttgacac cttgataccc
     1561 actctctgtg aatacctacc cccttctggc cacggtgcca tacctgtttc ttcctgtgac
     1621 tgtagagaca gttctagacc tttgtgatag aactaaaatg ctctctgtac tctagtctcc
     1681 tgcctcctca gctctgcaag tagtttagta ggaatgaagt ggaagtccag gcttggattg
     1741 cctaactaca ctgctaaaaa tatttgtaat ccttaataat taaactttgg atttgttaaa
     1801 a
//
