LOCUS       NM_001082486            1511 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens ACD shelterin complex subunit and telomerase
            recruitment factor (ACD), transcript variant 1, mRNA.
ACCESSION   NM_001082486
VERSION     NM_001082486.2
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 1511)
  AUTHORS   Wang,Q.L., Gong,C., Meng,X.Y., Fu,M., Yang,H., Zhou,F., Wu,Q. and
            Zhou,Y.
  TITLE     TPP1 is associated with risk of advanced precursors and cervical
            cancer survival
  JOURNAL   PLoS One 19 (5), e0298118 (2024)
   PUBMED   38722833
  REMARK    GeneRIF: TPP1 is associated with risk of advanced precursors and
            cervical cancer survival.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1511)
  AUTHORS   Bertrand,A., Ba,I., Kermasson,L., Pirabakaran,V., Chable,N.,
            Lainey,E., Menard,C., Kallel,F., Picard,C., Hadiji,S.,
            Coolen-Allou,N., Blanchard,E., de Villartay,J.P., Moshous,D.,
            Roelens,M., Callebaut,I., Kannengiesser,C. and Revy,P.
  TITLE     Characterization of novel mutations in the TEL-patch domain of the
            telomeric factor TPP1 associated with telomere biology disorders
  JOURNAL   Hum Mol Genet 33 (7), 612-623 (2024)
   PUBMED   38176734
  REMARK    GeneRIF: Characterization of novel mutations in the TEL-patch
            domain of the telomeric factor TPP1 associated with telomere
            biology disorders.
REFERENCE   3  (bases 1 to 1511)
  AUTHORS   Wang,H., Ma,T., Zhang,X., Chen,W., Lan,Y., Kuang,G., Hsu,S.J.,
            He,Z., Chen,Y., Stewart,J., Bhattacharjee,A., Luo,Z., Price,C. and
            Feng,X.
  TITLE     CTC1 OB-B interaction with TPP1 terminates telomerase and prevents
            telomere overextension
  JOURNAL   Nucleic Acids Res 51 (10), 4914-4928 (2023)
   PUBMED   37021555
  REMARK    GeneRIF: CTC1 OB-B interaction with TPP1 terminates telomerase and
            prevents telomere overextension.
REFERENCE   4  (bases 1 to 1511)
  AUTHORS   Lambert-Lanteigne,P., Young,A. and Autexier,C.
  TITLE     Complex interaction network revealed by mutation of human
            telomerase 'insertion in fingers' and essential N-terminal domains
            and the telomere protein TPP1
  JOURNAL   J Biol Chem 299 (3), 102916 (2023)
   PUBMED   36649908
  REMARK    GeneRIF: Complex interaction network revealed by mutation of human
            telomerase 'insertion in fingers' and essential N-terminal domains
            and the telomere protein TPP1.
REFERENCE   5  (bases 1 to 1511)
  AUTHORS   Chun-On,P., Hinchie,A.M., Beale,H.C., Gil Silva,A.A., Rush,E.,
            Sander,C., Connelly,C.J., Seynnaeve,B.K.N., Kirkwood,J.M.,
            Vaske,O.M., Greider,C.W. and Alder,J.K.
  TITLE     TPP1 promoter mutations cooperate with TERT promoter mutations to
            lengthen telomeres in melanoma
  JOURNAL   Science 378 (6620), 664-668 (2022)
   PUBMED   36356143
  REMARK    GeneRIF: TPP1 promoter mutations cooperate with TERT promoter
            mutations to lengthen telomeres in melanoma.
REFERENCE   6  (bases 1 to 1511)
  AUTHORS   Liu,D., O'Connor,M.S., Qin,J. and Songyang,Z.
  TITLE     Telosome, a mammalian telomere-associated complex formed by
            multiple telomeric proteins
  JOURNAL   J Biol Chem 279 (49), 51338-51342 (2004)
   PUBMED   15383534
REFERENCE   7  (bases 1 to 1511)
  AUTHORS   Houghtaling,B.R., Cuttonaro,L., Chang,W. and Smith,S.
  TITLE     A dynamic molecular link between the telomere length regulator TRF1
            and the chromosome end protector TRF2
  JOURNAL   Curr Biol 14 (18), 1621-1631 (2004)
   PUBMED   15380063
  REMARK    GeneRIF: TINT1 localized to telomeres via TIN2, where it functions
            as a negative regulator of telomerase-mediated telomere elongation.
REFERENCE   8  (bases 1 to 1511)
  AUTHORS   Ye,J.Z., Hockemeyer,D., Krutchinsky,A.N., Loayza,D., Hooper,S.M.,
            Chait,B.T. and de Lange,T.
  TITLE     POT1-interacting protein PIP1: a telomere length regulator that
            recruits POT1 to the TIN2/TRF1 complex
  JOURNAL   Genes Dev 18 (14), 1649-1654 (2004)
   PUBMED   15231715
REFERENCE   9  (bases 1 to 1511)
  AUTHORS   Liu,D., Safari,A., O'Connor,M.S., Chan,D.W., Laegeler,A., Qin,J.
            and Songyang,Z.
  TITLE     PTOP interacts with POT1 and regulates its localization to
            telomeres
  JOURNAL   Nat Cell Biol 6 (7), 673-680 (2004)
   PUBMED   15181449
  REMARK    GeneRIF: a paper that firstly reported cloning of human TTP1 (PTOP)
            and its biological function at telomere. TPP1 interacts with both
            POT1 and TIN2, heterodimerizes with POT1 and regulates POT1
            telomeric recruitment and telomere length.
REFERENCE   10 (bases 1 to 1511)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC016904.1 and AF070535.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 21, 2018 this sequence version replaced NM_001082486.1.
            
            Summary: This gene encodes a protein that is involved in telomere
            function. This protein is one of six core proteins in the
            telosome/shelterin telomeric complex, which functions to maintain
            telomere length and to protect telomere ends. Through its
            interaction with other components, this protein plays a key role in
            the assembly and stabilization of this complex, and it mediates the
            access of telomerase to the telomere. Multiple transcript variants
            encoding different isoforms have been found for this gene. This
            gene, which is also referred to as TPP1, is distinct from the
            unrelated TPP1 gene on chromosome 11, which encodes
            tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AF070535.1, BC016904.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000620761.6/ ENSP00000478084.1
            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
            1-1334              BC016904.1         484-1817
            1335-1511           AF070535.1         1289-1465
FEATURES             Location/Qualifiers
     source          1..1511
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1511
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /note="ACD shelterin complex subunit and telomerase
                     recruitment factor"
                     /db_xref="GeneID:65057"
                     /db_xref="HGNC:HGNC:25070"
                     /db_xref="MIM:609377"
     exon            1..139
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1417
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /note="isoform 1 is encoded by transcript variant 1; TIN2
                     interacting protein 1; POT1 and TIN2-interacting protein;
                     adrenocortical dysplasia homolog"
                     /codon_start=1
                     /product="adrenocortical dysplasia protein homolog isoform
                     1"
                     /protein_id="NP_001075955.2"
                     /db_xref="CCDS:CCDS42181.2"
                     /db_xref="GeneID:65057"
                     /db_xref="HGNC:HGNC:25070"
                     /db_xref="MIM:609377"
                     /translation="MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAG
                     PSHAPDTSDVGATLLVSDGTHSVRCLVTREALDTSDWEEKEFGFRGTEGRLLLLQDCG
                     VHVQVAEGGAPAEFYLQVDRFSLLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSEST
                     SSNAGLSLSQLLDEMREDQEHQGALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEA
                     VYTVPSSMLCISENDQLILSSLGPCQRTQGPELPPPDPALQDLSLTLIASPPSSPSSS
                     GTPALPGHMSSEESGTSISLLPALSLAAPDPGQRSSSQPSPAICSAPATLTPRSPHAS
                     RTPSSPLQSCTPSLSPRSHVPSPHQALVTRPQKPSLEFKEFVGLPCKNRPPFPRTGAT
                     RGAQEPCSVWEPPKRHRDGSAFQYEYEPPCTSLCARVQAVRLPPQLMAWALHFLMDAQ
                     PGSEPTPM"
     exon            140..282
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            283..376
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            377..453
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            454..498
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            499..533
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            534..685
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            686..782
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            783..869
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            870..1246
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1338
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1511
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1470..1475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /note="hexamer: AATAAA"
     regulatory      1475..1480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /note="hexamer: AATAAT"
     polyA_site      1491
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
                     /note="major polyA site"
     polyA_site      1511
                     /gene="ACD"
                     /gene_synonym="PIP1; PTOP; TINT1; TPP1"
ORIGIN      
        1 aaacccgggc ccgttgcatc cgctgggtgt agccgtgggg atggcaggtt cggggaggct
       61 ggtcctacgg ccctggattc gggagctgat tctggggtca gagacaccct ccagtccacg
      121 agccgggcag ctgcttgagg tactacagga cgccgaggcc gcggtcgcgg gcccatccca
      181 cgcccctgat acgtccgacg tcggggccac gctgcttgtg tctgacggga cccacagtgt
      241 ccgatgcctg gtgacgcggg aggccctgga cacctcggac tgggaggaga aggagttcgg
      301 cttccgcggg acagagggcc ggctgctgct gctgcaggac tgcggggttc atgtccaggt
      361 cgctgagggc ggcgcgcccg cagagttcta tctccaggtg gaccgcttca gcctgctgcc
      421 cacggagcag ccccggctac gggtgcctgg ttgcaaccaa gacttagatg ttcagaaaaa
      481 gctctatgac tgccttgagg agcacctttc agagtccacc tcgtccaatg caggcctatc
      541 actgtcccag cttctggatg aaatgcggga ggaccaggag catcaggggg cactcgtgtg
      601 cctggctgaa agctgcctga cactggaggg cccttgcaca gcaccccctg tcacccactg
      661 ggctgcctca cgatgcaagg ccacgggaga agctgtgtac actgtcccca gctcaatgct
      721 gtgcatctct gagaatgacc agctaattct gagctctcta ggcccctgtc agaggacaca
      781 gggccctgag ctgcccccac cagacccggc tctgcaggac ctatctctga ccctcatagc
      841 ctctcctcct tcctcaccca gttcctcagg aaccccggcc ttacccggcc acatgtcatc
      901 cgaggaaagt ggtaccagca tcagccttct gcctgccctg tccttggctg ctccagaccc
      961 agggcagaga agcagctccc agccctcacc agccatctgc tcagcccctg ccaccctgac
     1021 ccccaggtcc ccacacgcca gccgtacccc cagctcccca ctccagagct gcactcccag
     1081 tctctcaccc cgtagccatg tccccagtcc acaccaggct cttgtgacca ggccccagaa
     1141 acctagcctg gagttcaagg agtttgtagg gttgccctgc aagaatcggc cgccttttcc
     1201 caggaccgga gctaccaggg gagcccagga gccctgctct gtctgggaac ccccaaagag
     1261 gcatcgtgat ggttctgcct tccagtatga gtatgagcca ccctgcacgt ccctctgtgc
     1321 tcgggtccaa gctgtcaggc ttcctcccca gctcatggcc tgggccttgc actttctgat
     1381 ggatgcacag ccagggtctg agccaactcc gatgtgagac gtcacgcagg acagataccg
     1441 ctccacactc tgcttccttt gagtttttta ataaaataat ctcatgcggc aggagaggag
     1501 aggatcaggg a
//
