LOCUS       NM_001083965            2792 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens tudor and KH domain containing (TDRKH), transcript
            variant 1, mRNA.
ACCESSION   NM_001083965
VERSION     NM_001083965.2
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 2792)
  AUTHORS   Amiri-Yekta,A., Sen,S., Hazane-Puch,F., Tebbakh,C.,
            Roux-Buisson,N., Cazin,C., Thierry-Mieg,N., Bouras,A., Mohammad
            Ali,S.G., Hosseini,S.H., Goodarzian,M., Gourabi,H., Ray,P.F. and
            Kherraf,Z.E.
  TITLE     Whole genome sequencing identifies a homozygous splicing variant in
            TDRKH segregating with non-obstructive azoospermia in an Iranian
            family
  JOURNAL   Clin Genet 106 (5), 625-631 (2024)
   PUBMED   38956960
  REMARK    GeneRIF: Whole genome sequencing identifies a homozygous splicing
            variant in TDRKH segregating with non-obstructive azoospermia in an
            Iranian family.
REFERENCE   2  (bases 1 to 2792)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 2792)
  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   4  (bases 1 to 2792)
  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 2792)
  AUTHORS   Miura,S., Kosaka,K., Nomura,T., Nagata,S., Shimojo,T., Morikawa,T.,
            Fujioka,R., Harada,M., Taniwaki,T. and Shibata,H.
  TITLE     TDRKH is a candidate gene for an autosomal dominant distal
            hereditary motor neuropathy
  JOURNAL   Eur J Med Genet 62 (12), 103594 (2019)
   PUBMED   30503856
  REMARK    GeneRIF: TDRKH missense mutation segregates with dominant distal
            hereditary motor neuropathy in a four generation pedigree.
REFERENCE   6  (bases 1 to 2792)
  AUTHORS   Zhang,H., Liu,K., Izumi,N., Huang,H., Ding,D., Ni,Z., Sidhu,S.S.,
            Chen,C., Tomari,Y. and Min,J.
  TITLE     Structural basis for arginine methylation-independent recognition
            of PIWIL1 by TDRD2
  JOURNAL   Proc Natl Acad Sci U S A 114 (47), 12483-12488 (2017)
   PUBMED   29118143
  REMARK    GeneRIF: Unlike most other Tudor domains TDRD2 preferentially
            recognizes an unmethylated arginine-rich sequence from PIWIL1.
REFERENCE   7  (bases 1 to 2792)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2792)
  AUTHORS   Cote,J. and Richard,S.
  TITLE     Tudor domains bind symmetrical dimethylated arginines
  JOURNAL   J Biol Chem 280 (31), 28476-28483 (2005)
   PUBMED   15955813
  REMARK    GeneRIF: Tudor domain proteins interact with arginine-glycine-rich
            motifs in a methylarginine-dependent manner.
REFERENCE   9  (bases 1 to 2792)
  AUTHORS   Lamb,F.S., Barna,T.J., Goud,C., Marenholz,I., Mischke,D. and
            Schutte,B.C.
  TITLE     Complex RNA processing of TDRKH, a novel gene encoding the putative
            RNA-binding tudor and KH domains
  JOURNAL   Gene 246 (1-2), 209-218 (2000)
   PUBMED   10767542
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA796638.1, AF227192.1, AL589765.19, AK226092.1 and BC022467.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001083965.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1, 2, and 3
            all encode isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF227192.1, SRR1803613.89652.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368824.8/ ENSP00000357815.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-427               DA796638.1         35-461
            428-1109            AF227192.1         450-1131
            1110-1110           AL589765.19        98896-98896         c
            1111-2520           AF227192.1         1133-2542
            2521-2788           AK226092.1         2468-2735
            2789-2792           BC022467.1         2637-2640
FEATURES             Location/Qualifiers
     source          1..2792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..2792
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /note="tudor and KH domain containing"
                     /db_xref="GeneID:11022"
                     /db_xref="HGNC:HGNC:11713"
                     /db_xref="MIM:609501"
     exon            1..121
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            122..272
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1834
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /note="isoform a is encoded by transcript variant 1;
                     putative RNA binding protein; tudor domain containing 2;
                     tudor and KH domain-containing protein; tudor
                     domain-containing protein 2"
                     /codon_start=1
                     /product="tudor and KH domain-containing protein isoform
                     a"
                     /protein_id="NP_001077434.1"
                     /db_xref="CCDS:CCDS41394.1"
                     /db_xref="GeneID:11022"
                     /db_xref="HGNC:HGNC:11713"
                     /db_xref="MIM:609501"
                     /translation="MSTERTSWTSLSTIQKIALGLGIPASATVAYILYRRYRESREER
                     LTFVGEDDIEIEMRVPQEAVKLIIGRQGANIKQLRKQTGARIDVDTEDVGDERVLLIS
                     GFPVQVCKAKAAIHQILTENTPVSEQLSVPQRSVGRIIGRGGETIRSICKASGAKITC
                     DKESEGTLLLSRLIKISGTQKEVAAAKHLILEKVSEDEELRKRIAHSAETRVPRKQPI
                     SVRREDMTEPGGAGEPALWKNTSSSMEPTAPLVTPPPKGGGDMAVVVSKEGSWEKPSD
                     DSFQKSEAQAIPEMPMFEIPSPDFSFHADEYLEVYVSASEHPNHFWIQIVGSRSLQLD
                     KLVNEMTQHYENSVPEDLTVHVGDIVAAPLPTNGSWYRARVLGTLENGNLDLYFVDFG
                     DNGDCPLKDLRALRSDFLSLPFQAIECSLARIAPSGDQWEEEALDEFDRLTHCADWKP
                     LVAKISSYVQTGISTWPKIYLYDTSNGKKLDIGLELVHKGYAIELPEDIEENRAVPDM
                     LKDMATETDASLSTLLTETKKSSGEITHTLSCLSLSEAASMSGDDNLEDDYLL"
     exon            273..379
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            380..569
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            570..709
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            710..1031
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1192
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1365
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1430
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1582
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1684
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1781
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1782..2792
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2774..2779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /note="hexamer: AATAAA"
     polyA_site      2792
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /note="major polyA site"
ORIGIN      
        1 gctcactgtg gtggtgtgag tgggaggcgg cggcgctggt ggctgcagct ggggtgaggc
       61 gcgaggcggc gcactcgacg gctgactgga gcagcggtaa aggcgaggat ggagaccgaa
      121 ggatataagt caaagagtac agcagaaaat gtctactgaa cggacttctt ggacaagcct
      181 gtccaccatt cagaaaatag ccctgggcct tgggatccca gccagtgcaa cagttgccta
      241 tatcctatac cgcaggtata gggaaagcag agaagagcgg ctgacatttg ttggggaaga
      301 tgacattgag atagagatgc gggttcccca ggaggctgtg aaactcatca ttggccggca
      361 aggagccaat attaaacagc tgcggaaaca gacaggtgct cggattgatg tggacacaga
      421 ggatgtaggc gatgagcgag tgctgcttat cagtggtttt cctgttcagg tgtgcaaggc
      481 caaagcagca atccatcaga tcctgacaga gaatacccca gtgtctgagc agctttcagt
      541 tccccagaga tctgtgggca gaatcatagg gagaggcggc gagacaattc gttctatctg
      601 taaggcatct ggagccaaaa ttacctgtga caaagaatca gaagggacat tactactatc
      661 aagacttata aaaatctcag gaacacagaa ggaagtggca gcagccaagc atttgatact
      721 ggagaaagtt tcagaagatg aagaacttcg gaagagaatt gctcattctg cagaaaccag
      781 ggtcccacgc aaacagccaa tcagtgtgag aagagaagac atgacagagc caggtggagc
      841 tggagagcca gcattatgga aaaacaccag ttctagcatg gagccgactg cacccctggt
      901 gactcctcca cccaaaggag gaggcgacat ggctgtggta gtgtcaaagg aaggttcctg
      961 ggagaaacct agtgatgaca gctttcagaa gtctgaagcc caggccatcc cagagatgcc
     1021 catgtttgaa atccccagtc ctgacttcag ttttcatgct gatgagtacc tagaagtcta
     1081 cgtttctgct tctgagcacc ctaaccactt ctggatccag atcgttggct cccgcagcct
     1141 gcaattggat aagcttgtca atgagatgac ccagcactat gagaatagtg tgcctgaaga
     1201 cttgactgtg catgtaggag acattgtagc agcaccttta cctacaaatg gttcctggta
     1261 tcgagcccgg gtcctcggca ccttggagaa tgggaacttg gacctctatt ttgttgactt
     1321 tggagataat ggagattgcc cactgaagga cctcagggct ctcaggagtg acttcctaag
     1381 ccttccattt caagcaatag aatgtagtct ggcacggatt gctccctcag gtgaccagtg
     1441 ggaagaggaa gctttggatg agtttgatag actcactcat tgtgctgact ggaagcctct
     1501 ggtagccaag atctctagct atgtccagac tgggatctca acttggccaa agatctactt
     1561 atatgatact agcaatggga agaaacttga tattgggcta gaattagtac acaaaggata
     1621 cgcaattgag cttcctgaag acatagaaga aaacagagct gtcccagaca tgttgaagga
     1681 catggccaca gaaacagatg cctctctcag cacgttgctc actgagacca aaaagagctc
     1741 tggagagata acacataccc tgtcctgcct cagcttatca gaagctgctt ccatgtctgg
     1801 tgatgataac cttgaagatg actacttact ctgaagtctg ggcttcagtt tgctcagcca
     1861 tctgctttgc tgtgtgagtg cagctatcat ctatctgtag caacaggaaa gtaatgaggg
     1921 cgacagtggg gcacttgctt tgattccctc tttcccatgc cctgtcttaa tatacttctc
     1981 tgcagctgct ttcctgcagc ttaacttgct ctcagattga gcactttcaa gctttttgtg
     2041 tatttctgtc tttggcagga tttggcatag gaattggtgc atggaggaga ggagtgtatg
     2101 ataaaggatc catgcagtcc ttcctttatt acacatatag tctggcttgc tgtggaccaa
     2161 attaatattc tcctcccatc agactacaaa aaaattggac taccacgcta caagtgtgtc
     2221 tcccccattc cacctccgga tccctcccca accctccagt gtttgaatac tgctgtgtta
     2281 cttccaggcc gttcaacgtc aggctcagtc ccctctacca gtcatgattc acattactac
     2341 taggctgtat cctttttgag gctgggaaac agtcaggctt tcgtcattgg aagtgattct
     2401 gcagacttct gactcacctt atcaggtgac tctggttaag gaaagctttt gagtggtgaa
     2461 ctcaaagact ccagttgaat caggaggcaa aggcaaaaat tagcataatt atatttaaaa
     2521 gcctcaggaa gtgggaagag aatactgcct cccagcctca attgctgata tgttattgga
     2581 gacaggcttt tgaaactgct ccagctattt ctctgtaacc tttagttaaa atataagtag
     2641 aaaggagaca ggaggctcag gaaattttct aaattgctag tataatatct atatgtatac
     2701 acacatatac acccgtggag agagaggaag agtatacagt cctgtttgaa tcatttggag
     2761 gatttttttg ctgaataaag ttctcaagaa aa
//
