LOCUS       NM_015351               5094 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.
ACCESSION   NM_015351 XM_027236 XM_938197
VERSION     NM_015351.2
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 5094)
  AUTHORS   Yao,Y., Liu,J., Zhou,X., Liu,Z., Qiu,S., He,Y. and Zhou,X.
  TITLE     [A pan-cancer analysis of TTC9A expression level and its
            correlation with prognosis and immune microenvironment]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 44 (1), 70-82 (2024)
   PUBMED   38293978
  REMARK    GeneRIF: [A pan-cancer analysis of TTC9A expression level and its
            correlation with prognosis and immune microenvironment].
REFERENCE   2  (bases 1 to 5094)
  AUTHORS   Wang,X., Wu,X., Zheng,B., Chen,Y. and Zheng,D.
  TITLE     Exome sequencing in a Chinese family reveals TTC9 mutation
            associated with keratitis-ichthyosis-deafness (KID) syndrome
  JOURNAL   Eur J Dermatol 28 (4), 534-535 (2018)
   PUBMED   30325323
  REMARK    GeneRIF: In this study, we propose a molecular mechanism whereby
            TTC9 mutations function to generate ichthyosiform hyperkeratosis of
            the skin, either directly or indirectly through altered
            myofibroblasts and altered hormone regulation.
REFERENCE   3  (bases 1 to 5094)
  AUTHORS   Shrestha,S., Sun,Y., Lufkin,T., Kraus,P., Or,Y., Garcia,Y.A.,
            Guy,N., Ramos,P., Cox,M.B., Tay,F. and Lin,V.C.
  TITLE     Tetratricopeptide repeat domain 9A negatively regulates estrogen
            receptor alpha activity
  JOURNAL   Int J Biol Sci 11 (4), 434-447 (2015)
   PUBMED   25798063
  REMARK    GeneRIF: It is plausible therefore that TTC9A negatively regulates
            ERalpha activity through interacting with co-chaperone proteins
            such as FKBP38 and FKBP51.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5094)
  AUTHORS   Al Olama,A.A., Kote-Jarai,Z., Berndt,S.I., Conti,D.V.,
            Schumacher,F., Han,Y., Benlloch,S., Hazelett,D.J., Wang,Z.,
            Saunders,E., Leongamornlert,D., Lindstrom,S., Jugurnauth-Little,S.,
            Dadaev,T., Tymrakiewicz,M., Stram,D.O., Rand,K., Wan,P., Stram,A.,
            Sheng,X., Pooler,L.C., Park,K., Xia,L., Tyrer,J., Kolonel,L.N., Le
            Marchand,L., Hoover,R.N., Machiela,M.J., Yeager,M., Burdette,L.,
            Chung,C.C., Hutchinson,A., Yu,K., Goh,C., Ahmed,M., Govindasami,K.,
            Guy,M., Tammela,T.L., Auvinen,A., Wahlfors,T., Schleutker,J.,
            Visakorpi,T., Leinonen,K.A., Xu,J., Aly,M., Donovan,J.,
            Travis,R.C., Key,T.J., Siddiq,A., Canzian,F., Khaw,K.T.,
            Takahashi,A., Kubo,M., Pharoah,P., Pashayan,N., Weischer,M.,
            Nordestgaard,B.G., Nielsen,S.F., Klarskov,P., Roder,M.A.,
            Iversen,P., Thibodeau,S.N., McDonnell,S.K., Schaid,D.J.,
            Stanford,J.L., Kolb,S., Holt,S., Knudsen,B., Coll,A.H.,
            Gapstur,S.M., Diver,W.R., Stevens,V.L., Maier,C., Luedeke,M.,
            Herkommer,K., Rinckleb,A.E., Strom,S.S., Pettaway,C., Yeboah,E.D.,
            Tettey,Y., Biritwum,R.B., Adjei,A.A., Tay,E., Truelove,A., Niwa,S.,
            Chokkalingam,A.P., Cannon-Albright,L., Cybulski,C., Wokolorczyk,D.,
            Kluzniak,W., Park,J., Sellers,T., Lin,H.Y., Isaacs,W.B.,
            Partin,A.W., Brenner,H., Dieffenbach,A.K., Stegmaier,C., Chen,C.,
            Giovannucci,E.L., Ma,J., Stampfer,M., Penney,K.L., Mucci,L.,
            John,E.M., Ingles,S.A., Kittles,R.A., Murphy,A.B., Pandha,H.,
            Michael,A., Kierzek,A.M., Blot,W., Signorello,L.B., Zheng,W.,
            Albanes,D., Virtamo,J., Weinstein,S., Nemesure,B., Carpten,J.,
            Leske,C., Wu,S.Y., Hennis,A., Kibel,A.S., Rybicki,B.A.,
            Neslund-Dudas,C., Hsing,A.W., Chu,L., Goodman,P.J., Klein,E.A.,
            Zheng,S.L., Batra,J., Clements,J., Spurdle,A., Teixeira,M.R.,
            Paulo,P., Maia,S., Slavov,C., Kaneva,R., Mitev,V., Witte,J.S.,
            Casey,G., Gillanders,E.M., Seminara,D., Riboli,E., Hamdy,F.C.,
            Coetzee,G.A., Li,Q., Freedman,M.L., Hunter,D.J., Muir,K.,
            Gronberg,H., Neal,D.E., Southey,M., Giles,G.G., Severi,G.,
            Cook,M.B., Nakagawa,H., Wiklund,F., Kraft,P., Chanock,S.J.,
            Henderson,B.E., Easton,D.F., Eeles,R.A. and Haiman,C.A.
  CONSRTM   Breast and Prostate Cancer Cohort Consortium (BPC3); PRACTICAL
            (Prostate Cancer Association Group to Investigate Cancer-Associated
            Alterations in the Genome) Consortium; COGS (Collaborative
            Oncological Gene-environment Study) Consortium; GAME-ON/ELLIPSE
            Consortium
  TITLE     A meta-analysis of 87,040 individuals identifies 23 new
            susceptibility loci for prostate cancer
  JOURNAL   Nat Genet 46 (10), 1103-1109 (2014)
   PUBMED   25217961
REFERENCE   5  (bases 1 to 5094)
  AUTHORS   Shrestha,S., Cao,S. and Lin,V.C.
  TITLE     The local microenvironment instigates the regulation of mammary
            tetratricopeptide repeat domain 9A during lactation and involution
            through local regulation of the activity of estrogen receptor alpha
  JOURNAL   Biochem Biophys Res Commun 426 (1), 65-70 (2012)
   PUBMED   22917536
REFERENCE   6  (bases 1 to 5094)
  AUTHORS   Cao,S., Ho,G.H. and Lin,V.C.
  TITLE     Tetratricopeptide repeat domain 9A is an interacting protein for
            tropomyosin Tm5NM-1
  JOURNAL   BMC Cancer 8, 231 (2008)
   PUBMED   18699990
  REMARK    GeneRIF: TTC9A acts as a chaperone protein to facilitate the
            function of tropomyosins (including Tm5NM-1) in stabilizing
            microfilament and it may play a role in cancer cell invasion and
            metastasis
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 5094)
  AUTHORS   Cao,S., Iyer,J.K. and Lin,V.
  TITLE     Identification of tetratricopeptide repeat domain 9, a hormonally
            regulated protein
  JOURNAL   Biochem Biophys Res Commun 345 (1), 310-317 (2006)
   PUBMED   16678794
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D86980.1, BX407741.2 and
            AC004816.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015351.1.
            
            Summary: This gene encodes a protein that contains three
            tetratricopeptide repeats. The gene has been shown to be hormonally
            regulated in breast cancer cells and may play a role in cancer cell
            invasion and metastasis. [provided by RefSeq, Mar 2009].
            
            ##Evidence-Data-START##
            Transcript exon combination :: D86980.1, BC047950.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000256367.3/ ENSP00000256367.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-520               D86980.1           130-649
            521-677             BX407741.2         477-633
            678-1726            D86980.1           807-1855
            1727-5088           AC004816.1         152013-155374       c
            5089-5094           AC004816.1         152007-152012       c
FEATURES             Location/Qualifiers
     source          1..5094
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.2"
     gene            1..5094
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /note="tetratricopeptide repeat domain 9"
                     /db_xref="GeneID:23508"
                     /db_xref="HGNC:HGNC:20267"
                     /db_xref="MIM:610488"
     exon            1..620
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /inference="alignment:Splign:2.1.0"
     CDS             215..883
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /note="TPR repeat protein 9A"
                     /codon_start=1
                     /product="tetratricopeptide repeat protein 9A"
                     /protein_id="NP_056166.1"
                     /db_xref="CCDS:CCDS45132.1"
                     /db_xref="GeneID:23508"
                     /db_xref="HGNC:HGNC:20267"
                     /db_xref="MIM:610488"
                     /translation="MERKGSAAGAKGNPSPPAAGEGQRPPPPLCVPGGGGGAPARGQV
                     GAAAEPAELIRRAHEFKSQGAQCYKDKKFREAIGKYHRALLELKGLLPPPGERERDSR
                     PASPAGALKPGRLSEEQSKTVEAIEIDCYNSLAACLLQAELVNYERVKEYCLKVLKKE
                     GENFKALYRSGVAFYHLGDYDKALYYLKEARTQQPTDTNVIRYIQLTEMKLSRCSQRE
                     KEAM"
     exon            621..803
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /inference="alignment:Splign:2.1.0"
     exon            804..5094
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2051..2056
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /note="hexamer: AATAAA"
     polyA_site      2074
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /note="major polyA site"
     regulatory      2417..2422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /note="hexamer: ATTAAA"
     polyA_site      2443
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
     regulatory      5070..5075
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /note="hexamer: CATAAA"
     polyA_site      5094
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
ORIGIN      
        1 gtccgaggcg gcggcggcgg cggctggagc agcctctggc agcagcgggg agaatgggag
       61 tgcggggcgc cagaccgccg cggggtgtca cggccgccac gaagcctgcg aggcgcgggg
      121 ccggcgcccg cggcttttaa acccgggaag gcgcggcggc ggcggcggcg gcgggcagat
      181 cgcggcgcgc accaggcgcc ggggcggcgg ccgaatggag agaaagggct cggcggccgg
      241 ggccaagggg aacccgagcc cgcccgcggc cggagagggg cagcggccac cgccgccgct
      301 gtgcgtcccg ggcggcggcg gaggagcccc agcgaggggc caggtcgggg cggcggccga
      361 gccggccgag ctcatccgac gagcgcacga gttcaaaagc caaggggcgc agtgctacaa
      421 ggacaagaaa ttccgtgaag ccataggcaa ataccaccgg gcgttgctgg agctgaaggg
      481 gctgctgccg ccccccgggg aacgggagcg ggactcgcgc ccggcctccc cggctggggc
      541 cctgaagccc ggccgcctct cggaggagca gagcaagacg gtggaagcca tcgagatcga
      601 ctgttacaac agcctggcag cctgcctgct ccaggctgag ctggtaaact atgaacgagt
      661 caaggaatat tgcctcaaag tcttgaagaa ggaaggggag aacttcaagg ccctttaccg
      721 gtctggtgtg gccttctacc accttgggga ctatgacaaa gcactctact acctgaaaga
      781 agcaaggacc caacaaccaa cagacaccaa cgtgattcgg tatatccagc tgacggagat
      841 gaaactcagc cgatgctccc agagagaaaa agaagccatg taaccaggaa gcagctccag
      901 agctgcgccc acgcctgacc ggggacttcc aggcatcccc tggcagagag ccccgtcctg
      961 gattctgtcc ctttctcccc acttcttctg gctcctcatt tttcctcctg ttgcacccca
     1021 gctctttgtc tcctcccagt acgaaaagga gagatgcaaa tttggaatct ggtaggtcgc
     1081 ccagacaatg gagacatcct ctcctctagc aggtcagcga ctgagagggg cctgacttct
     1141 gctgggacag ctggagagga gtctcatggg ctgggatgct gttgtggctt tgactttggc
     1201 cagtgcttct gacagaggcg gagcctggca agtgtaccat cccacaggca gcaggcacac
     1261 agcccatggg ctggatcctt ccacactttc ctgacagacc agaaccagag catctcgagg
     1321 caactgttag aaatccaggg acgagacaaa cagagaagcg ctggtgaagc caacatagag
     1381 actgtcaatg tgtacactgg agttcccacc cccacccccc acccgtcact tagcccctgc
     1441 ctccttcccc cactcgttgt cttggcttgt gctttctcct ctccccatcg gggatccgag
     1501 actctgccag gattcacatg ccactgaagc ccactcagtg ccctctggtg accacacata
     1561 ccattccccc ggactcccac ccagcaggca gctgtgaccg cagaagggca ggatgaagtg
     1621 ggccaaggtt tgggacaggt tgactgtgta ggtgacaggg agggaaagat gatggccagg
     1681 ggaaagagca tcgtataggc taggggattg aactgtggac tgattcagtg taaataaaaa
     1741 caaattaaca ggtagtagtt cctgtcagtt ctgttggaag cagcccactc cctcactttt
     1801 actccttcct ccaaccctca atcagagcta cttacagcca ggcaggatgg ggctttcccc
     1861 aaagcaattg gccgtttgtc cagtggcaga caatggtggc tacagccttt gtgcttttaa
     1921 gagtgggctg ggattgtgga gactgcccag gggcttggct ttgtcagaac ttgtacaatc
     1981 ttcttttgat gaaattatct gaactcaaca tctagcacat agaatgtgtt caacaaatgc
     2041 ttgttgaatg aataaattat gactgcagac tggctctcct gccttaaact aatttcatcc
     2101 cagcctagtc tcctgatgtc tgtgctcgtt atgctatgcc atgttgcttc agtcaaacaa
     2161 gaaacactta ctgagggcat attgtttgcc catcattgtg caatatgctg tgggacatgg
     2221 gatgtcgtct cagtcttcaa ggaaatggaa gggttaagaa atgcatatga gattattacc
     2281 aatgacaccg ttaatttata tgatgcttta aaattatcag agcactttca tgtatttttc
     2341 gtgtgactag tgaaaaagac aatgttgtac aaaattaaaa tatatacaga tgcaataatg
     2401 tgaatagtta ggatttatta aatgcattat cttcagatct ttacatgtat aatctcattt
     2461 ctttcatgca gttactctgg gatactgttc ccatttgatg ggtaagaata ttgaaaacca
     2521 gaaaaattaa ttatcccaag gttgcatggc ctttagtggc atagctagga tttgaaccag
     2581 gcctgcctga ctccagagct ctggctagta tctatgctat acttagttgc ctctctgtaa
     2641 gtataatatt gggcaattat aaccatttga gaacaggaca atatgtatta acctgaaaag
     2701 tgttcatgat gtcagtgata gtacatggcc tccttatgta tttactcaag ggccccaaaa
     2761 gaccagaggc cagaatccct agtagtcaga gcagtgacag gtcagaaaaa ggcagctgag
     2821 gtccaatagt tatgtctgtg tattgctcat tctacttact gatggagcca gcatgtatct
     2881 caacaactca cctagcattc atcacccatc cccagcattg ggaaagggtc acaattaaga
     2941 ccgaaaggaa acacaaagtt aaatatgggt taattatgta agcagatgcc ccaccacggc
     3001 aggatccaat cacagccgag gggcccagaa gagagcagcg taagttatat tcacatagtt
     3061 ccccaaaggc tttcaacggg ggctacagga aggtgctaga aatattgagg ggcctgccat
     3121 tactcaccta gagctcactc tctggagaag aggaaaagga agaagctatt tcagctgcca
     3181 cattctcccc aatccctact atattatgct gtctttcctc ttcctcctag ctggctttac
     3241 atgaccctaa cccaaaacta ccctatggcc ccacacggga atgtgttcaa acgccccgac
     3301 ccccaccccc acccccattc ccaagcctcc aacttagaac gtttgtgatt tggcagatgg
     3361 tttgttagga tctgaaggat gaagagaagg gtagaggtca cctggagaat gagttcaaac
     3421 tgccagggtc ttcccttggt ctttgtgcgt caggaaggac tccgagtaat tattccctat
     3481 gcagagacag gagagaggtc ttgtttacat gagtgtgctg gggcagggct ggacaatcca
     3541 ggatatgatt gtagccatcc catgtagaaa gatcaaaaac cagaacgaaa tgaagacagc
     3601 ctctcagaac ctcatagaac aagcgtccag gtcatctgct tgtttggtga cttagatata
     3661 caggcttact ggaactccat tcactgtgac ctgaagttaa ataatcccaa agagaaaaag
     3721 ctacctgggg tattggttga tgtttggggt gatagggctg aattttctgt gcatttgtcc
     3781 aacaaaggct ttagagcaca aaaccaggtt cattctccct accaaatctt cagcttcctt
     3841 ctcctcatcc ctccccaaaa caagaactgt gatttaattc cgtacgttgc ggatgtcact
     3901 gctgacctat gtagctggag tactaatcag gcatctgacc tgcactgtca tcccctgcct
     3961 ggacttttgc gatggactct ttgggggaaa aactaacgct ttttaattat tgtgaaagca
     4021 tcatgtgtgt attgtagaag ttttaggaaa aaaaggacaa aatccaatcc ataagcttac
     4081 cacccaagac aaacgtgtat tcttttgaat atacctttta gttctttttg gtgtaaatgt
     4141 acacacgcac acacagttgt ggattttttt aaacaaaaac tggatacact gaatatactc
     4201 tttaataact tttcaagtgt gtatttatat tttagaatat gtaatcctac acagatacaa
     4261 aattcaaaaa gtacaaactg ctctgtagtc agaagtaaat cttctcccta ccccgtctgc
     4321 cagcatctag tttccctcta atttattttg catcctagtg gagatgctta cacattgtca
     4381 aacatatgta tatattcttt tatcacacac aaatggcagc atattggaca ctttttgttt
     4441 tttgctcctt ctgttccttc acttaataat atcacgaaca ttttcggcat atcaaacttt
     4501 ctcaacagca tcttcattgt atggatggac ccttttttta tcatcaatcc tcaaatagtg
     4561 attatttcat ttgttcccaa tcttcattgt aaatagtgtt gcaactgaca ttcttgtagc
     4621 taaattttgc acatgtctat aacgatttcc ttaggataaa ctccaagaag agacttgctt
     4681 ggctattttt aagaattttg atacatgttg ccaaccaccc tccagaaagt ttgtaccaaa
     4741 acgctctcct atttggatcc tagagagtac cctgtttcct gcaccctaac actaggtatc
     4801 atcacttatc aaatctttcc caatttggta gctgggataa tagtatgtca atgttatttt
     4861 aactttcttt gattcttcgc gaataacatt ttcatatgct tattgaccat ttgtacttct
     4921 ttctttgtga attttctatt tatttgatat tggtatgttt attatcaatt tgtaatttta
     4981 ttaagaatat tatttttgtc aagaaatgct gcaaatatgc tttccaagtg ctttgctttc
     5041 aaattttgtt tatggtgctt tttgacatac ataaattctt aattctgcaa ttaa
//
