LOCUS       NM_138376               4737 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.
ACCESSION   NM_138376
VERSION     NM_138376.3
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 4737)
  AUTHORS   Musante,L., Faletra,F., Meier,K., Tomoum,H., Najarzadeh Torbati,P.,
            Blair,E., North,S., Gartner,J., Diegmann,S., Beiraghi Toosi,M.,
            Ashrafzadeh,F., Ghayoor Karimiani,E., Murphy,D., Murru,F.M.,
            Zanus,C., Magnolato,A., La Bianca,M., Feresin,A., Girotto,G.,
            Gasparini,P., Costa,P. and Carrozzi,M.
  TITLE     TTC5 syndrome: Clinical and molecular spectrum of a severe and
            recognizable condition
  JOURNAL   Am J Med Genet A 188 (9), 2652-2665 (2022)
   PUBMED   35670379
  REMARK    GeneRIF: TTC5 syndrome: Clinical and molecular spectrum of a severe
            and recognizable condition.
            Erratum:[Am J Med Genet A. 2023 Mar;191(3):910. doi:
            10.1002/ajmg.a.63091.. PMID: 36574750]
REFERENCE   2  (bases 1 to 4737)
  AUTHORS   Alhebshi,H., Tian,K., Patnaik,L., Taylor,R., Bezecny,P., Hall,C.,
            Muller,P.A.J., Safari,N., Creamer,D.P.M., Demonacos,C., Mutti,L.,
            Bittar,M.N. and Krstic-Demonacos,M.
  TITLE     Evaluation of the Role of p53 Tumour Suppressor Posttranslational
            Modifications and TTC5 Cofactor in Lung Cancer
  JOURNAL   Int J Mol Sci 22 (24), 13198 (2021)
   PUBMED   34947995
  REMARK    GeneRIF: Evaluation of the Role of p53 Tumour Suppressor
            Posttranslational Modifications and TTC5 Cofactor in Lung Cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4737)
  AUTHORS   Rasheed,A., Gumus,E., Zaki,M., Johnson,K., Manzoor,H., LaForce,G.,
            Ross,D., McEvoy-Venneri,J., Stanley,V., Lee,S., Virani,A.,
            Ben-Omran,T., Gleeson,J.G., Naz,S. and Schaffer,A.
  TITLE     Bi-allelic TTC5 variants cause delayed developmental milestones and
            intellectual disability
  JOURNAL   J Med Genet 58 (4), 237-246 (2021)
   PUBMED   32439809
  REMARK    GeneRIF: Bi-allelic TTC5 variants cause delayed developmental
            milestones and intellectual disability.
REFERENCE   4  (bases 1 to 4737)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4737)
  AUTHORS   Lin,Z., Gasic,I., Chandrasekaran,V., Peters,N., Shao,S.,
            Mitchison,T.J. and Hegde,R.S.
  TITLE     TTC5 mediates autoregulation of tubulin via mRNA degradation
  JOURNAL   Science 367 (6473), 100-104 (2020)
   PUBMED   31727855
  REMARK    GeneRIF: this study identified tetratricopeptide protein 5 (TTC5)
            as a tubulin-specific ribosome-associating factor that triggers
            cotranslational degradation of tubulin mRNAs in response to excess
            soluble tubulin.
REFERENCE   6  (bases 1 to 4737)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4737)
  AUTHORS   Xiong,Y., Wang,L., Deng,W., Wang,J. and Shi,T.
  TITLE     Human TTC5, a novel tetratricopeptide repeat domain containing
            gene, activates p53 and inhibits AP-1 pathway
  JOURNAL   Mol Biol Rep 40 (11), 6183-6188 (2013)
   PUBMED   24091941
  REMARK    GeneRIF: Human TTC5, a novel tetratricopeptide repeat domain
            containing gene, activates p53 and inhibits AP-1 pathway.
REFERENCE   8  (bases 1 to 4737)
  AUTHORS   Lynch,J.T., Somerville,T.D., Spencer,G.J., Huang,X. and
            Somervaille,T.C.
  TITLE     TTC5 is required to prevent apoptosis of acute myeloid leukemia
            stem cells
  JOURNAL   Cell Death Dis 4 (4), e573 (2013)
   PUBMED   23559008
  REMARK    GeneRIF: TTC5 and EP300 cooperate to prevent excessive accumulation
            of MYC in AML cells and their sensitization to cell death.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 4737)
  AUTHORS   Davies,L., Paraskevopoulou,E., Sadeq,M., Symeou,C., Pantelidou,C.,
            Demonacos,C. and Krstic-Demonacos,M.
  TITLE     Regulation of glucocorticoid receptor activity by a stress
            responsive transcriptional cofactor
  JOURNAL   Mol Endocrinol 25 (1), 58-71 (2011)
   PUBMED   21147850
  REMARK    GeneRIF: TTC5 is a novel cofactor regulating GR function in a
            stress-dependent manner.
REFERENCE   10 (bases 1 to 4737)
  AUTHORS   Demonacos,C., Krstic-Demonacos,M. and La Thangue,N.B.
  TITLE     A TPR motif cofactor contributes to p300 activity in the p53
            response
  JOURNAL   Mol Cell 8 (1), 71-84 (2001)
   PUBMED   11511361
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB051711.1, BX248066.1, BC030822.1, BM998414.1 and AL356019.5.
            
            On Nov 22, 2018 this sequence version replaced NM_138376.2.
            
            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 :: SRR1803614.236257.1,
                                           SRR1803616.126424.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258821.8/ ENSP00000258821.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-153               DB051711.1         44-196
            154-289             BX248066.1         134-269
            290-1492            BC030822.1         277-1479
            1493-1833           BM998414.1         6-346               c
            1834-4737           AL356019.5         146382-149285       c
FEATURES             Location/Qualifiers
     source          1..4737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..4737
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /note="tetratricopeptide repeat domain 5"
                     /db_xref="GeneID:91875"
                     /db_xref="HGNC:HGNC:19274"
                     /db_xref="MIM:619014"
     exon            1..65
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1337
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /note="TPR repeat protein 5; stress-responsive activator
                     of p300; protein Strap"
                     /codon_start=1
                     /product="tetratricopeptide repeat protein 5"
                     /protein_id="NP_612385.2"
                     /db_xref="CCDS:CCDS9546.1"
                     /db_xref="GeneID:91875"
                     /db_xref="HGNC:HGNC:19274"
                     /db_xref="MIM:619014"
                     /translation="MMADEEEEVKPILQKLQELVDQLYSFRDCYFETHSVEDAGRKQQ
                     DVQKEMEKTLQQMEEVVGSVQGKAQVLMLTGKALNVTPDYSPKAEELLSKAVKLEPEL
                     VEAWNQLGEVYWKKGDVAAAHTCFSGALTHCRNKVSLQNLSMVLRQLRTDTEDEHSHH
                     VMDSVRQAKLAVQMDVHDGRSWYILGNSYLSLYFSTGQNPKISQQALSAYAQAEKVDR
                     KASSNPDLHLNRATLHKYEESYGEALEGFSRAAALDPAWPEPRQREQQLLEFLDRLTS
                     LLESKGKVKTKKLQSMLGSLRPAHLGPCSDGHYQSASGQKVTLELKPLSTLQPGVNSG
                     AVILGKVVFSLTTEEKVPFTFGLVDSDGPCYAVMVYNIVQSWGVLIGDSVAIPEPNLR
                     LHRIQHKGKDYSFSSVRVETPLLLVVNGKPQGSSSQAVATVASRPQCE"
     exon            66..198
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     exon            199..410
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     exon            411..561
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     exon            562..653
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     exon            654..710
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     exon            711..857
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     exon            858..1072
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1217
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..4737
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4456..4461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /note="hexamer: ATTAAA"
     polyA_site      4491
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /note="major polyA site"
     regulatory      4717..4722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /note="hexamer: AATATA"
     polyA_site      4737
                     /gene="TTC5"
                     /gene_synonym="NEDCAFD; Strap"
                     /note="major polyA site"
ORIGIN      
        1 ggagtggccg ggagatgatg gctgatgaag aggaagaagt caagccgatc ttgcagaaat
       61 tgcaggaact cgtggatcag ctctactcat ttcgagactg ctatttcgag acacatagtg
      121 ttgaggatgc tgggaggaag caacaggatg tgcagaagga gatggagaaa accctacagc
      181 agatggaaga agtagtgggt tctgtccagg gcaaggcaca agttctaatg ctaactggga
      241 aagcactaaa tgtgactcct gactatagcc ctaaggctga ggagcttctg tcaaaggctg
      301 tgaagctgga gcccgagctg gtggaagcct ggaaccagct gggtgaggtg tactggaaaa
      361 aaggggatgt tgcagctgcc cacacctgct tctcaggagc cctcacccat tgcaggaaca
      421 aagtctcctt gcaaaacctg tcaatggtgc ttcgtcagct gcggactgac actgaagatg
      481 aacattctca ccatgtcatg gacagtgtcc gacaggctaa gttggctgtt cagatggatg
      541 tccatgatgg ccgctcctgg tatattcttg ggaattcata tctttccctt tacttctcta
      601 ctggccagaa ccctaagatc tcccagcaag ccctcagtgc ctatgcccaa gcagagaaag
      661 ttgacagaaa agcttctagc aatcctgacc ttcatctgaa cagggcgacg ttgcataaat
      721 atgaagagag ttatggggag gccctggagg gcttctctcg ggctgcagcc ctggaccctg
      781 cctggccaga gccccggcaa cgagagcaac aacttctgga attcctggat agattaacca
      841 gcctccttga gagtaaggga aaggtgaaga ccaaaaagct gcagagcatg ctgggaagct
      901 tgcgcccagc ccatctaggc ccttgcagtg atgggcacta tcagtcagcc tctgggcaga
      961 aagtgaccct ggagctcaag ccactgagta cgcttcagcc tggggtgaac agcggtgccg
     1021 tcatcctggg aaaggtggta tttagcctca ccacagagga gaaagtcccc tttacatttg
     1081 gcctggtaga ttcagatgga ccttgctatg cagtgatggt gtacaatata gtgcagagct
     1141 ggggagtgct cattggagac tctgtagcca ttcctgagcc caacctgcgg cttcaccgaa
     1201 ttcagcacaa aggaaaggac tattcctttt ccagtgttcg agtggagacg cccctcctgc
     1261 tagtggtgaa tgggaagcct cagggatcca gcagccaggc tgttgccaca gtggcatcgc
     1321 gaccacagtg tgaatgacct ttgacttgca tgctcaacag ggagtggagg agaggagaca
     1381 aggctctgga cagccggtcc agccacatcc agtgattcag cagggatggg aggaatgttt
     1441 taaatgaaga ctttctcttt ccctgcctgt attacacttc gtatctcttc tctctcctct
     1501 gtcctcatca tgttccagct ctctacaggg ccacatactc ttctggcata tctctcctgt
     1561 ctcttccact gctctctatg ttttaagcaa agagcatgga attggtagaa gtcttgggat
     1621 cttgccatgg gacagagtcc ccaaggttcc tgttgttgcc tccttcctaa gcctcatatg
     1681 tatatatcag ttcagtattt attgctaaag gagggggctt aattttgtaa tggcttttat
     1741 ttttagcaat ttttattttt atttttgaac tttaggtcct tcctcttctt tggggctgga
     1801 acagaattaa atttgtttgg aaaaaaaaaa aaacaccacg tagtttggcc tgctttattc
     1861 tccctaggcc tgtattcttt gttttaggat cacttcaatt tattggagta atacccccat
     1921 ttttttcttt atacaaagca gtttatttct ctcccagtta aaagaattcc gacaatagac
     1981 agccccaggc aggaatggca actccacaaa gttgctagag accagctttc ttccattttc
     2041 ccattctgtc attccctagg ggtggtcttc actatggtcc aagatgacag agcaatactg
     2101 ttctaatagt gttactaggc tgaaggacca gagagagtta gataaatcct cagtttcttt
     2161 agagtctagt gacatgtttt ataacagttt atcttaatat ccttgtggta aaatggagaa
     2221 atgtgagtga ggattaataa ccaattgaat tggcctggca cggtggctca gcctgtaatc
     2281 ccaccacttt gggagtccaa ggcgggtgga tcacgaggtc aggagttcaa gatcagcctg
     2341 gccaagatgg tgaaactccg tctctactaa aaatacaaaa attagctggg cgtggtggca
     2401 ggcacctgta atcacagcta ctggggaggc tgaggcagag aattgcttga acctgggaag
     2461 tggaggttgc agtgagccga tatcatgcca ctgcactcca gcatgggcga cagagcgaga
     2521 ctccgtctca aacagcaaca acaactgaat ggctgtaata cattaatgta tacagatgaa
     2581 ttgagaagtc ttctagtgaa atggctcaga tctttgttct tggtccagtc ctgttcagtt
     2641 tttgatcagt gccttgaata tcattgatga ctcattaaat ttataaagag tgcagaggcc
     2701 tcctcagaga atggatggta gaaatgcatt gatgagagaa gttttatcta tctatctgtc
     2761 tatctatcta tctatctatc tgtctctatc taagaagtca taaaggctga gtctaataag
     2821 ataaaatttt cagtccattc ttttggtcca aaaaggctta cattctcagg tatagcttca
     2881 acatcatata tgaatattac taagaatctt agtagataag ctaaagtcag tatgagtaac
     2941 cagtctgata tagtttgcaa gaacactctt catggactgc accaaaaaaa cctatggtag
     3001 caagagacag tttttattag aagtactgtc tgttatacca catatggagt cttaaattag
     3061 ttttgggtgt cattttgagg cctagagtca tagaagagtg attaggagct tgtggggtat
     3121 aaaaataact tgagaattgg ctgaaagcaa ctagggaaga tgggggtagt agtatgtgta
     3181 aacatttgag gcagtagaga tgtgggaccc aaatactgtt ccccttttac tcaaattctg
     3241 agatgagttg acatgttctg tgtagggcta gagagtagaa aaatggccag taggtggtag
     3301 ccacagagaa gcagtgcgta caaacaagta agtatgcaaa atttgtacat acggtttcag
     3361 gaataactag aatacccata aaatatccac ctgccttaaa aactagaaca tcattgataa
     3421 cttggaagcc cttgcatacc tctccatgat ctcatttgtc ttcacagcta tataaatctc
     3481 attgtatgat tataccataa tttattcatc ctgttgttaa aggatatttg ggtttccagt
     3541 ttttcttttt ttactaccaa agcactacat tattaatatt cttgtatatg tcctgatatg
     3601 taagtgcaaa agtttctttt acagcaatgg ctcttgaaga gtggttccca gaccagcagc
     3661 atcagcatcc cttggaactt ctttgaaatg caaattctca agccccctac ccagacttac
     3721 tgaattcaaa actatgtggg aggagcccag caatctgtgt ttcgcaaacc ctccaggtga
     3781 ctctgatgca cagtaaaatt tgagaaccac tgtttaagag tattgacata gaatggaatt
     3841 gctggatcat agagtatata catgttcaac ttttttgaga agcactaaac atttccaaag
     3901 tgcttatatt agtttatgtc tctactatca atagatgagt caccccaatg ctccccatcc
     3961 tcttctgtgc ttggtattat cttttaggta ttgcaaatac aggagatttg agtattattt
     4021 ccttgtggcc ttaatttgca tttctgatta ttaatgagct tgagcatctt ttcatatatt
     4081 tagaagccac taatattttc tctcggtaaa atgcctattc gagtctttgc acactgctgt
     4141 attggatgtc aaattgattt atatattccc tgtactaatc gtttgtctac atacagtttt
     4201 atcctgtttt tttttttatt ctattgggtc ttttgctgaa cagaagttct taatttcaat
     4261 gtcattgaat ttatccatct tttatgataa tgctttttgt gttttaagag gttcttagct
     4321 ctcctaaagt cataaggaca ttttccctct actgctttat gaagttattt tgtccttttc
     4381 ttacagtatg actttatttt atgttatgta cggatataat ttttttcata atgagtaaat
     4441 agcccagcac cttttattaa agaatcaatc ctttccctac tgatctttaa agcccagtct
     4501 gtctttttct ttttttgaaa ttgtctagct ttttaatttt taccaaccag atgattataa
     4561 aatatcacat agtaggcata aattacattt ctttgtccat tcctgtttct ttttctatga
     4621 aatctctgtt ttcttttgtc caatttttat tgggttgtct tcttattgat tccttacatg
     4681 ttctggatac taatccatta taaattatgt ttttcaaata tatttatcca aatcgca
//
