LOCUS       NM_014290               3688 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens tudor domain containing 7 (TDRD7), transcript variant
            1, mRNA.
ACCESSION   NM_014290
VERSION     NM_014290.3
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 3688)
  AUTHORS   Tu,C., Li,H., Liu,X., Wang,Y., Li,W., Meng,L., Wang,W., Li,Y.,
            Li,D., Du,J., Lu,G., Lin,G. and Tan,Y.Q.
  TITLE     TDRD7 participates in lens development and spermiogenesis by
            mediating autophagosome maturation
  JOURNAL   Autophagy 17 (11), 3848-3864 (2021)
   PUBMED   33618632
  REMARK    GeneRIF: TDRD7 participates in lens development and spermiogenesis
            by mediating autophagosome maturation.
REFERENCE   2  (bases 1 to 3688)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3688)
  AUTHORS   Subramanian,G., Popli,S., Chakravarty,S., Taylor,R.T.,
            Chakravarti,R. and Chattopadhyay,S.
  TITLE     The interferon-inducible protein TDRD7 inhibits AMP-activated
            protein kinase and thereby restricts autophagy-independent virus
            replication
  JOURNAL   J Biol Chem 295 (20), 6811-6822 (2020)
   PUBMED   32273341
  REMARK    GeneRIF: The interferon-inducible protein TDRD7 inhibits
            AMP-activated protein kinase and thereby restricts
            autophagy-independent virus replication.
REFERENCE   4  (bases 1 to 3688)
  AUTHORS   Tan,Y.Q., Tu,C., Meng,L., Yuan,S., Sjaarda,C., Luo,A., Du,J.,
            Li,W., Gong,F., Zhong,C., Deng,H.X., Lu,G., Liang,P. and Lin,G.
  TITLE     Loss-of-function mutations in TDRD7 lead to a rare novel syndrome
            combining congenital cataract and nonobstructive azoospermia in
            humans
  JOURNAL   Genet Med 21 (5), 1209-1217 (2019)
   PUBMED   31048812
  REMARK    GeneRIF: Our purpose was to uncover novel human mutations and genes
            causing familial nonobstructive azoospermia and congenital
            cataract. Two novel loss-of-function mutations (c.324_325insA
            (T110Nfs*30) and c.688_689insA (p.Y230X), respectively) of TDRD7
            were found in the affected patients
REFERENCE   5  (bases 1 to 3688)
  AUTHORS   Kim,S.T., Chun,J.W., Park,G. and Koh,J.W.
  TITLE     Comparative quantification of plasma TDRD7 mRNA in cataract
            patients by real-time polymerase chain reaction
  JOURNAL   Korean J Ophthalmol 28 (4), 343-350 (2014)
   PUBMED   25120344
  REMARK    GeneRIF: Human cataracts and the TDRD7 gene loss-of-function
            mutations are strongly causally related, as the expression level of
            plasma TDRD7 mRNA in patients with cataracts was statistically
            significantly lower than in the normal control group.
REFERENCE   6  (bases 1 to 3688)
  AUTHORS   Zheng,C., Wu,M., He,C.Y., An,X.J., Sun,M., Chen,C.L. and Ye,J.
  TITLE     RNA granule component TDRD7 gene polymorphisms in a Han Chinese
            population with age-related cataract
  JOURNAL   J Int Med Res 42 (1), 153-163 (2014)
   PUBMED   24435515
  REMARK    GeneRIF: present study suggests that the rs10981985 G --> A variant
            within the TDRD7 gene may protect against cortical age-related
            cataract in a Han Chinese population
REFERENCE   7  (bases 1 to 3688)
  AUTHORS   Wang,J., Huo,K., Ma,L., Tang,L., Li,D., Huang,X., Yuan,Y., Li,C.,
            Wang,W., Guan,W., Chen,H., Jin,C., Wei,J., Zhang,W., Yang,Y.,
            Liu,Q., Zhou,Y., Zhang,C., Wu,Z., Xu,W., Zhang,Y., Liu,T., Yu,D.,
            Zhang,Y., Chen,L., Zhu,D., Zhong,X., Kang,L., Gan,X., Yu,X., Ma,Q.,
            Yan,J., Zhou,L., Liu,Z., Zhu,Y., Zhou,T., He,F. and Yang,X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12):965. doi:
            10.15252/msb.20178107.. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3688)
  AUTHORS   Lachke,S.A., Alkuraya,F.S., Kneeland,S.C., Ohn,T., Aboukhalil,A.,
            Howell,G.R., Saadi,I., Cavallesco,R., Yue,Y., Tsai,A.C., Nair,K.S.,
            Cosma,M.I., Smith,R.S., Hodges,E., Alfadhli,S.M., Al-Hajeri,A.,
            Shamseldin,H.E., Behbehani,A., Hannon,G.J., Bulyk,M.L., Drack,A.V.,
            Anderson,P.J., John,S.W. and Maas,R.L.
  TITLE     Mutations in the RNA granule component TDRD7 cause cataract and
            glaucoma
  JOURNAL   Science 331 (6024), 1571-1576 (2011)
   PUBMED   21436445
  REMARK    GeneRIF: study describes 2 cases of pediatric cataract with
            loss-of-function mutations in TDRD7; TDRD7 coimmunoprecipitates
            with specific lens mRNAs; required for posttranscriptional control
            of mRNAs critical to normal lens development and RNA granule
            function
REFERENCE   9  (bases 1 to 3688)
  AUTHORS   Conte,N., Delaval,B., Ginestier,C., Ferrand,A., Isnardon,D.,
            Larroque,C., Prigent,C., Seraphin,B., Jacquemier,J. and Birnbaum,D.
  TITLE     TACC1-chTOG-Aurora A protein complex in breast cancer
  JOURNAL   Oncogene 22 (50), 8102-8116 (2003)
   PUBMED   14603251
REFERENCE   10 (bases 1 to 3688)
  AUTHORS   Hirose,T., Kawabuchi,M., Tamaru,T., Okumura,N., Nagai,K. and
            Okada,M.
  TITLE     Identification of tudor repeat associator with PCTAIRE 2 (Trap). A
            novel protein that interacts with the N-terminal domain of PCTAIRE
            2 in rat brain
  JOURNAL   Eur J Biochem 267 (7), 2113-2121 (2000)
   PUBMED   10727952
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC028694.1 and AL449464.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014290.2.
            
            Summary: The protein encoded by this gene belongs to the Tudor
            family of proteins. This protein contains conserved Tudor domains
            and LOTUS domains. It is a component of RNA granules, which
            function in RNA processing. Mutations in this gene have been
            associated with cataract formation in mouse and human. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Nov 2014].
            
            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 :: BC028694.1, GQ891453.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355295.5/ ENSP00000347444.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1515              BC028694.1         76-1590
            1516-1517           AL449464.12        18516-18517
            1518-3688           BC028694.1         1593-3763
FEATURES             Location/Qualifiers
     source          1..3688
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     gene            1..3688
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /note="tudor domain containing 7"
                     /db_xref="GeneID:23424"
                     /db_xref="HGNC:HGNC:30831"
                     /db_xref="MIM:611258"
     exon            1..143
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            144..356
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..3446
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /note="isoform 1 is encoded by transcript variant 1; tudor
                     repeat associator with PCTAIRE 2; PCTAIRE2-binding
                     protein; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="tudor domain-containing protein 7 isoform 1"
                     /protein_id="NP_055105.2"
                     /db_xref="CCDS:CCDS6725.1"
                     /db_xref="GeneID:23424"
                     /db_xref="HGNC:HGNC:30831"
                     /db_xref="MIM:611258"
                     /translation="MLEGDLVSKMLRAVLQSHKNGVALPRLQGEYRSLTGDWIPFKQL
                     GFPTLEAYLRSVPAVVRIETSRSGEITCYAMACTETARIAQLVARQRSSKRKTGRQVN
                     CQMRVKKTMPFFLEGKPKATLRQPGFASNFSVGKKPNPAPLRDKGNSVGVKPDAEMSP
                     YMLHTTLGNEAFKDIPVQRHVTMSTNNRFSPKASLQPPLQMHLSRTSTKEMSDNLNQT
                     VEKPNVKPPASYTYKMDEVQNRIKEILNKHNNGIWISKLPHFYKELYKEDLNQGILQQ
                     FEHWPHICTVEKPCSGGQDLLLYPAKRKQLLRSELDTEKVPLSPLPGPKQTPPLKGCP
                     TVMAGDFKEKVADLLVKYTSGLWASALPKAFEEMYKVKFPEDALKNLASLSDVCSIDY
                     ISGNPQKAILYAKLPLPTDKIQKDAGQAHGDNDIKAMVEQEYLQVEESIAESANTFME
                     DITVPPLMIPTEASPSVLVVELSNTNEVVIRYVGKDYSAAQELMEDEMKEYYSKNPKI
                     TPVQAVNVGQLLAVNAEEDAWLRAQVISTEENKIKVCYVDYGFSENVEKSKAYKLNPK
                     FCSLSFQATKCKLAGLEVLSDDPDLVKVVESLTCGKIFAVEILDKADIPLVVLYDTSG
                     EDDININATCLKAICDKSLEVHLQVDAMYTNVKVTNICSDGTLYCQVPCKGLNKLSDL
                     LRKIEDYFHCKHMTSECFVSLPFCGKICLFHCKGKWLRVEITNVHSSRALDVQFLDSG
                     TVTSVKVSELREIPPRFLQEMIAIPPQAIKCCLADLPQSIGMWTPDAVLWLRDSVLNC
                     SDCSIKVTKVDETRGIAHVYLFTPKNFPDPHRSINRQITNADLWKHQKDVFLSAISSG
                     ADSPNSKNGNMPMSGNTGENFRKNLTDVIKKSMVDHTSAFSTEELPPPVHLSKPGEHM
                     DVYVPVACHPGYFVIQPWQEIHKLEVLMEEMILYYSVSEERHIAVEKDQVYAAKVENK
                     WHRVLLKGILTNGLVSVYELDYGKHELVNIRKVQPLVDMFRKLPFQAVTAQLAGVKCN
                     QWSEEASMVFRNHVEKKPLVALVQTVIENANPWDRKVVVYLVDTSLPDTDTWIHDFMS
                     EYLIELSKVN"
     exon            357..498
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            499..712
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            713..786
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            787..1004
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1591
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1592..1778
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1779..1890
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1891..2093
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2094..2228
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2229..2315
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2316..2450
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2451..2561
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2562..3064
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            3065..3225
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            3226..3688
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3664..3669
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /note="hexamer: AATAAA"
     polyA_site      3688
                     /gene="TDRD7"
                     /gene_synonym="CATC4; PCTAIRE2BP; TRAP"
                     /note="major polyA site"
ORIGIN      
        1 gaggtgattc ccaagccgcg gggcggctcc ggtggtgcgg ggaaaccgaa agtgggcggc
       61 ggccgcggcg gggcccctgg cggagacggc ggcaggagct gggcccagag acgcggggac
      121 gggccgtggg cccccggaac gaggcaaaga tgctggaagg agatctggtt tcaaagatgc
      181 tacgagctgt tctgcagtct cataagaatg gagtagcatt accccggctc caaggagagt
      241 acagatcctt gactggagac tggatcccct tcaaacagct aggtttccct acactagaag
      301 cctatctgag aagtgtgcca gcagtggtca ggatagagac tagtagatct ggagagatta
      361 cctgctatgc catggcctgc acagaaactg caagaattgc tcagcttgtg gctcgtcaaa
      421 ggagttctaa aaggaaaacc gggcgtcaag ttaattgtca gatgagagtg aagaaaacca
      481 tgccattttt tctagaagga aaaccaaaag caaccctcag acaaccagga tttgcttcaa
      541 atttttctgt tggcaaaaaa cctaatccag caccgttaag agacaaagga aactctgttg
      601 gagttaagcc tgatgctgaa atgtctcctt atatgctaca cacaactctt ggaaatgaag
      661 cattcaaaga cattccagtg caaaggcatg tgaccatgtc caccaacaac aggtttagcc
      721 caaaggcgtc ccttcaacca cctttgcaga tgcatctctc aagaacctct actaaggaaa
      781 tgagtgataa tttaaatcag actgttgaaa aacccaatgt caagcctcct gcctcttaca
      841 cttataaaat ggatgaggtt caaaatcgca taaaggaaat actaaacaag cataacaatg
      901 gcatttggat atctaagctt ccacattttt acaaagagtt atataaagaa gaccttaatc
      961 aaggaatttt acaacagttt gaacactggc ctcatatttg cacggtggag aaaccttgca
     1021 gtggtggcca agatttactt ctttatccag ctaagagaaa gcagcttttg agaagtgaac
     1081 tggatactga gaaagtacct ctatccccac tacctggtcc caaacaaaca ccaccgttga
     1141 aagggtgtcc aacagttatg gcaggagact ttaaagaaaa agtggcagac ctgctggtga
     1201 aatacacaag tggcctttgg gccagtgcac ttccgaaagc atttgaggaa atgtacaaag
     1261 tgaaattccc tgaggatgcc ttaaaaaatc ttgcctcact ttctgatgta tgcagcatag
     1321 actacatttc tggaaatccc cagaaggcca ttctctatgc taaacttcca ttgcccactg
     1381 acaaaatcca aaaggatgca gggcaagcac atggtgataa tgatatcaag gctatggttg
     1441 aacaagagta tttgcaggta gaagaaagca ttgctgaaag tgctaatacc tttatggagg
     1501 acataacagt tcctccttta atgattccaa ctgaagcatc accatctgta ttggtggttg
     1561 aactgagcaa cacaaatgaa gtggttatca ggtatgtggg caaagactat tctgctgctc
     1621 aggaattaat ggaagatgag atgaaggaat attacagtaa gaatcctaag atcacaccag
     1681 tccaggctgt gaatgttggg cagttgctgg ccgtaaatgc cgaggaggac gcctggttac
     1741 gggcacaggt catctcaaca gaagagaaca aaataaaggt atgctatgtt gactatggtt
     1801 ttagtgaaaa tgttgaaaaa agcaaagcat acaaattaaa cccgaagttt tgttcactct
     1861 catttcaagc tacaaaatgt aagcttgcag gcttggaagt cctaagcgat gaccctgatc
     1921 tagtgaaggt ggttgaatct ttaacttgtg gaaagatctt tgcagtggaa atacttgaca
     1981 aagctgacat tccacttgtt gttctgtacg atacctcagg agaagatgat atcaatatca
     2041 atgccacctg cttgaaggct atatgtgaca agtcactaga ggttcacctg caggttgacg
     2101 ccatgtacac aaatgtcaaa gtaactaata tttgctctga tgggacactc tactgccagg
     2161 tgccttgtaa gggtctgaac aagctcagtg accttctacg taagatagag gactacttcc
     2221 attgcaagca catgacctct gagtgctttg tttcattacc cttctgtggg aaaatctgcc
     2281 tcttccattg caaaggaaaa tggttacgag tagagatcac aaatgttcac agcagccggg
     2341 ctcttgatgt tcagttcctg gactctggca ctgtgacatc tgtaaaagtg tcagagctca
     2401 gggaaattcc acctcggttt ctacaagaaa tgattgcaat accacctcag gccattaagt
     2461 gctgtttagc agatcttcca caatctattg gcatgtggac accagatgca gtgctgtggt
     2521 taagagattc tgttttgaat tgctcggact gtagcattaa ggttacaaaa gtggatgaaa
     2581 ccagagggat cgcacatgtt tatttattta cccctaagaa cttccctgac cctcatcgca
     2641 gtattaatcg ccagattaca aatgcagact tgtggaagca tcagaaggat gtgtttttga
     2701 gtgccatatc cagtggagct gactctccca acagcaaaaa tggcaacatg cccatgtcgg
     2761 gcaacactgg agagaatttc agaaagaacc tcacagatgt catcaaaaag tccatggtgg
     2821 accatacgag cgctttctcc acagaggaac tgccacctcc tgtccactta tcaaagccag
     2881 gggaacacat ggatgtgtat gtgcctgtgg cctgtcaccc aggctacttc gtcatccagc
     2941 cttggcagga gatacataag ttggaagttc tgatggaaga gatgattcta tattacagcg
     3001 tgtctgaaga gcgccacata gcagtggaga aagaccaagt gtatgctgca aaagtggaaa
     3061 ataagtggca cagggtgctt ttaaaaggaa tcctgaccaa tggactggta tctgtgtatg
     3121 agctggatta tggcaaacac gaattagtca acataagaaa agtacagccc ctagtggaca
     3181 tgttccgaaa gctgcccttc caagcagtca cagctcaact tgcaggagtg aagtgcaacc
     3241 agtggtctga ggaggcttct atggtgtttc gaaatcatgt ggagaagaaa cctctggtgg
     3301 cactggtgca gacagtcatt gaaaatgcta acccttggga ccggaaagta gtggtctact
     3361 tagtggacac atcgttgcca gacaccgata cctggattca tgattttatg tcagagtatc
     3421 tgatagagct ttcaaaagtt aattaatgac tgcctctgaa accttgacaa ctaattcaga
     3481 ttttttagca ataacaaaat gtagtaggct taaaaaaaat cttaactctg ctacatggct
     3541 ctgactgctg tgggggattg aaaagaatat gcttatgttt gatgaaagat atttaacaag
     3601 ttttgtttta acagagttga cttttcaaag aaaattgtac ttgaattatt actataatat
     3661 tagaataaaa atgtttatca atataaaa
//
