LOCUS       NM_033284               2396 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens transducin beta like 1 Y-linked (TBL1Y), transcript
            variant 1, mRNA.
ACCESSION   NM_033284
VERSION     NM_033284.2
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 2396)
  AUTHORS   Di Stazio,M., Collesi,C., Vozzi,D., Liu,W., Myers,M., Morgan,A., D
            Adamo,P.A., Girotto,G., Rubinato,E., Giacca,M. and Gasparini,P.
  TITLE     TBL1Y: a new gene involved in syndromic hearing loss
  JOURNAL   Eur J Hum Genet 27 (3), 466-474 (2019)
   PUBMED   30341416
  REMARK    GeneRIF: TBL1Y mutation causes syndromic hearing loss.  Pathogenic
            variant affects protein expression and stability.
REFERENCE   2  (bases 1 to 2396)
  AUTHORS   Meyfour,A., Ansari,H., Pahlavan,S., Mirshahvaladi,S.,
            Rezaei-Tavirani,M., Gourabi,H., Baharvand,H. and Salekdeh,G.H.
  TITLE     Y Chromosome Missing Protein, TBL1Y, May Play an Important Role in
            Cardiac Differentiation
  JOURNAL   J Proteome Res 16 (12), 4391-4402 (2017)
   PUBMED   28853286
  REMARK    GeneRIF: reducing TBL1Y cellular level using siRNA approach
            influenced cardiac differentiation by reducing its efficacy as well
            as increasing the probability of impaired contractions; proposed
            reclassification of TBL1Y as 'found missing protein'
REFERENCE   3  (bases 1 to 2396)
  AUTHORS   Huang,J., Cardamone,M.D., Johnson,H.E., Neault,M., Chan,M.,
            Floyd,Z.E., Mallette,F.A. and Perissi,V.
  TITLE     Exchange Factor TBL1 and Arginine Methyltransferase PRMT6 Cooperate
            in Protecting G Protein Pathway Suppressor 2 (GPS2) from
            Proteasomal Degradation
  JOURNAL   J Biol Chem 290 (31), 19044-19054 (2015)
   PUBMED   26070566
  REMARK    GeneRIF: TBL1 is required to protect GPS2 from degradation, with
            methylation of GPS2 by arginine methyltransferase PRMT6 regulating
            the interaction with TBL1 and inhibiting proteasome-dependent
            degradation.
REFERENCE   4  (bases 1 to 2396)
  AUTHORS   Tagariello,A., Breuer,C., Birkner,Y., Schmidt,S., Koch,A.M.,
            Cesnjevar,R., Ruffer,A., Dittrich,S., Schneider,H., Winterpacht,A.,
            Sticht,H., Dotsch,J. and Toka,O.
  TITLE     Functional null mutations in the gonosomal homologue gene TBL1Y are
            associated with non-syndromic coarctation of the aorta
  JOURNAL   Curr Mol Med 12 (2), 199-205 (2012)
   PUBMED   22280357
  REMARK    GeneRIF: Our findings suggest that TBL1Y is involved in the genesis
            of non-syndromic coarctation of the aorta.
REFERENCE   5  (bases 1 to 2396)
  AUTHORS   Ramadoss,S., Li,J., Ding,X., Al Hezaimi,K. and Wang,C.Y.
  TITLE     Transducin beta-like protein 1 recruits nuclear factor kappaB to
            the target gene promoter for transcriptional activation
  JOURNAL   Mol Cell Biol 31 (5), 924-934 (2011)
   PUBMED   21189284
  REMARK    GeneRIF: Taken together,these findings suggest that TBL1 controls
            NF-kB activation by recruiting NF-kB to its target gene promoter.
REFERENCE   6  (bases 1 to 2396)
  AUTHORS   Serajee,F.J. and Mahbubul Huq,A.H.
  TITLE     Association of Y chromosome haplotypes with autism
  JOURNAL   J Child Neurol 24 (10), 1258-1261 (2009)
   PUBMED   19605777
  REMARK    GeneRIF: investigated 12 single-nucleotide polymorphisms in
            Y-linked neuroligin 4, transducin b-like 1, and eukaryotic
            translation initiation factor 1a genes, results suggest a Y
            chromosome effect in autism
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2396)
  AUTHORS   Russo,P., Siani,A., Miller,M.A., Karanam,S., Esposito,T.,
            Gianfrancesco,F., Barba,G., Lauria,F., Strazzullo,P. and
            Cappuccio,F.P.
  TITLE     Genetic variants of Y chromosome are associated with a protective
            lipid profile in black men
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (8), 1569-1574 (2008)
   PUBMED   18511697
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2396)
  AUTHORS   Agate,R.J., Choe,M. and Arnold,A.P.
  TITLE     Sex differences in structure and expression of the sex chromosome
            genes CHD1Z and CHD1W in zebra finches
  JOURNAL   Mol Biol Evol 21 (2), 384-396 (2004)
   PUBMED   14660691
REFERENCE   9  (bases 1 to 2396)
  AUTHORS   Skaletsky,H., Kuroda-Kawaguchi,T., Minx,P.J., Cordum,H.S.,
            Hillier,L., Brown,L.G., Repping,S., Pyntikova,T., Ali,J., Bieri,T.,
            Chinwalla,A., Delehaunty,A., Delehaunty,K., Du,H., Fewell,G.,
            Fulton,L., Fulton,R., Graves,T., Hou,S.F., Latrielle,P.,
            Leonard,S., Mardis,E., Maupin,R., McPherson,J., Miner,T., Nash,W.,
            Nguyen,C., Ozersky,P., Pepin,K., Rock,S., Rohlfing,T., Scott,K.,
            Schultz,B., Strong,C., Tin-Wollam,A., Yang,S.P., Waterston,R.H.,
            Wilson,R.K., Rozen,S. and Page,D.C.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF332220.1.
            
            On May 17, 2019 this sequence version replaced NM_033284.1.
            
            Summary: The protein encoded by this gene has sequence similarity
            with members of the WD40 repeat-containing protein family. The WD40
            group is a large family of proteins, which appear to have a
            regulatory function. It is believed that the WD40 repeats mediate
            protein-protein interactions and members of the family are involved
            in signal transduction, RNA processing, gene regulation, vesicular
            trafficking, cytoskeletal assembly and may play a role in the
            control of cytotypic differentiation. This gene is highly similar
            to TBL1X gene in nucleotide sequence and protein sequence, but the
            TBL1X gene is located on chromosome X and this gene is on
            chromosome Y. This gene has three alternatively spliced transcript
            variants encoding the same protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) is the longest transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF332220.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465411, SAMN03465419
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383032.6/ ENSP00000372499.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2396              AF332220.1         12-2407
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     gene            1..2396
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /note="transducin beta like 1 Y-linked"
                     /db_xref="GeneID:90665"
                     /db_xref="HGNC:HGNC:18502"
                     /db_xref="MIM:400033"
     exon            1..286
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            287..371
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            372..402
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            403..497
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            498..586
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            587..694
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             637..2205
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /note="transducin beta-like 1; transducin beta-like
                     protein 1Y; transducin-beta-like protein 1, Y-linked"
                     /codon_start=1
                     /product="F-box-like/WD repeat-containing protein TBL1Y"
                     /protein_id="NP_150600.1"
                     /db_xref="CCDS:CCDS14779.1"
                     /db_xref="GeneID:90665"
                     /db_xref="HGNC:HGNC:18502"
                     /db_xref="MIM:400033"
                     /translation="MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLV
                     PPSALISILQKGLQYVEAEISINKDGTVFDSRPIESLSLIVAVIPDVVQMRQQAFGEK
                     LTQQQASAAATEASAMAKAATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPME
                     IDGDVEIPPNKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQ
                     LVLRHCIREGGHDVPSNKDVTSLDWNSDGTLLAMGSYDGFARIWTENGNLASTLGQHK
                     GPIFALKWNKKGNYVLSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNMTFAS
                     CSTDMCIHVCRLGCDHPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQDA
                     CVHDLQAHSKEIYTIKWSPTGPATSNPNSSIMLASASFDSTVRLWDVEQGVCTHTLMK
                     HQEPVYSVAFSPDGKYLASGSFDKYVHIWNTQSGSLVHSYQGTGGIFEVCWNARGDKV
                     GASASDGSVCVLDL"
     exon            695..840
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            841..1093
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1226
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1368
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1432
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1530
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1591
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1592..1713
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1788
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1789..1916
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1917..2082
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2083..2184
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2185..2396
                     /gene="TBL1Y"
                     /gene_synonym="DFNY2; TBL1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aattcgcgct cgggagtgag gagccgccaa caccccagct ccgctgctgc cgccaccgca
       61 gtgctctcta gtcgccattg gttacctaaa ctttccagta cccgcgacct ttccgggact
      121 ccgcggcggc ggggcagagg cggcccaggg gcggcacgcg gctgctccgg tgcgccgggc
      181 tcttttcggc cgccgcacgg ccgggcctca caggctgccc tcctgagaga ggctcagaac
      241 acggccaggt acgcgccgcc gccacagttg cgctgctagc gacgaggtgt tttcctctgc
      301 tggcacgcca gaatccctgg ttcagcctgg aaggcgaggg gcaggactcc ccagacagtg
      361 gcctcagtgt ggcattgatg tcctaggttg taaggtgcta aggggaatgc cagctgttct
      421 cttaacagaa gggcagtttt tgaagaaatg aagcaggact tgatgtggat tgtcataaac
      481 tgtttctccc taaagaggct ggtccccaca gacggcttgc catttctatg actggatgct
      541 gagaagcctg ctggttcaga ggtccacaca tgaagttacc ataaagaggg tggttccaac
      601 ttcatcaata cctcatcgcc atgaggtgag gctaagatga gcataaccag tgacgaggtg
      661 aactttctgg tttatcggta tctccaggag tcaggttttt ctcactcggc tttcacgttt
      721 gggatcgaga gccacatcag ccagtccaac atcaatggga cactagtgcc accgtctgcc
      781 ctcatctcca ttctccagaa gggactgcag tatgtagagg ctgagataag catcaacaag
      841 gatggcacag tgttcgacag ccgccctata gagtccctgt ccctgatagt tgctgtgatt
      901 cctgatgtgg tgcagatgcg gcagcaggca tttggagaga agctcactca gcagcaagcc
      961 agtgcagcag ccacagaggc atcagcaatg gcaaaggcgg caaccatgac cccagctgct
     1021 atttcccagc aaaatcctcc aaagaaccga gaggccacag tgaacgggga agagaatgga
     1081 gcacatgaaa tcaataatca ctcaaagcca atggaaatag atggggatgt tgagattcca
     1141 cccaacaaag ccacagtcct tcggggccac gagtctgagg tgttcatttg tgcctggaac
     1201 cctgtcagtg atttgctagc ctctggatct ggagactcaa ctgcaaggat atggaacctg
     1261 aatgagaata gcaacggggg ctccacccag ctcgtgttga gacattgtat acgagaaggg
     1321 gggcacgacg tcccaagtaa taaagatgtc acctcactgg actggaacag tgatggaaca
     1381 ctattggcta tgggttcata tgatggtttc gcaagaatat ggacagaaaa tggtaacctg
     1441 gccagcacct taggccaaca taaaggcccc atcttcgctc tgaaatggaa caaaaagggg
     1501 aattatgttt tgagtgctgg tgtagacaaa acaacaataa tttgggatgc tcacacagga
     1561 gaagccaaac agcagtttcc ttttcattca gcccccgccc ttgatgtgga ctggcagaac
     1621 aacatgacct ttgcctcctg tagcacagac atgtgtatcc atgtgtgcag gctcggctgt
     1681 gaccacccag tcaaaacctt ccagggacac acaaacgagg tcaatgccat caaatgggat
     1741 ccttctggaa tgttgctggc gtcctgctcg gatgacatga cattgaagat ctggagtatg
     1801 aagcaggatg catgcgtcca cgatcttcag gctcacagca aagagatcta caccatcaag
     1861 tggagcccca ccgggcctgc caccagcaac ccaaactcca gcatcatgtt ggcaagtgct
     1921 tcatttgatt ctacagtgcg actgtgggat gtggagcaag gtgtctgcac ccacacactc
     1981 atgaagcatc aagagcctgt ctacagtgta gctttcagcc ccgatggaaa gtacttggct
     2041 agtggatcct ttgacaagta tgttcatatc tggaatactc agagtggaag tctcgtccac
     2101 agctaccaag gcactggcgg tatcttcgag gtgtgctgga acgcccgagg agataaagtg
     2161 ggcgccagcg cgtctgatgg ctctgtgtgt gttctggatc tgtgaaagta aacacaaaat
     2221 atagaaaaaa agaaaagaat tctaatgacc tgccttgaat gcatggggtt gcagctctgt
     2281 tcaaacacaa ttctatcagc tccaaaatgt gtgaacttga cttgtgttag agtatattct
     2341 gaaaccaact tgtcccaggc cacaggagtg tatatgtttc ataatcttta tcaaga
//
