LOCUS       NM_003324               3080 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens TUB like protein 3 (TULP3), transcript variant 1,
            mRNA.
ACCESSION   NM_003324
VERSION     NM_003324.5
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 3080)
  AUTHORS   Devane,J., Ott,E., Olinger,E.G., Epting,D., Decker,E.,
            Friedrich,A., Bachmann,N., Renschler,G., Eisenberger,T.,
            Briem-Richter,A., Grabhorn,E.F., Powell,L., Wilson,I.J., Rice,S.J.,
            Miles,C.G., Wood,K., Trivedi,P., Hirschfield,G., Pietrobattista,A.,
            Wohler,E., Mezina,A., Sobreira,N., Agolini,E., Maggiore,G.,
            Dahmer-Heath,M., Yilmaz,A., Boerries,M., Metzger,P., Schell,C.,
            Grunewald,I., Konrad,M., Konig,J., Schlevogt,B., Sayer,J.A. and
            Bergmann,C.
  CONSRTM   Genomics England Research Consortium
  TITLE     Progressive liver, kidney, and heart degeneration in children and
            adults affected by TULP3 mutations
  JOURNAL   Am J Hum Genet 109 (5), 928-943 (2022)
   PUBMED   35397207
  REMARK    GeneRIF: Progressive liver, kidney, and heart degeneration in
            children and adults affected by TULP3 mutations.
REFERENCE   2  (bases 1 to 3080)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3080)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (bases 1 to 3080)
  AUTHORS   Song,J., Fu,Q., Liu,G., Zhang,C., Wang,Y., Tao,S., Liu,R. and Li,Z.
  TITLE     TULP3 silencing suppresses cell proliferation, migration and
            invasion in gastric cancer via the PTEN/Akt/Snail pathway
  JOURNAL   Cancer Treat Res Commun 31, 100551 (2022)
   PUBMED   35344762
  REMARK    GeneRIF: TULP3 silencing suppresses cell proliferation, migration
            and invasion in gastric cancer via the PTEN/Akt/Snail pathway.
REFERENCE   5  (bases 1 to 3080)
  AUTHORS   Li,Z.H., Zhou,J.H., Chen,S.N., Pan,L., Feng,Y., Luo,M.Q., Li,R.X.
            and Sun,G.L.
  TITLE     MicroRNA-506 has a suppressive effect on the tumorigenesis of
            nonsmall-cell lung cancer by regulating tubby-like protein 3
  JOURNAL   Bioengineered 12 (2), 10176-10186 (2021)
   PUBMED   34874810
  REMARK    GeneRIF: MicroRNA-506 has a suppressive effect on the tumorigenesis
            of nonsmall-cell lung cancer by regulating tubby-like protein 3.
REFERENCE   6  (bases 1 to 3080)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS One 5 (7), e11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3080)
  AUTHORS   Ikeda,A., Nishina,P.M. and Naggert,J.K.
  TITLE     The tubby-like proteins, a family with roles in neuronal
            development and function
  JOURNAL   J Cell Sci 115 (Pt 1), 9-14 (2002)
   PUBMED   11801719
  REMARK    Review article
REFERENCE   8  (bases 1 to 3080)
  AUTHORS   Santagata,S., Boggon,T.J., Baird,C.L., Gomez,C.A., Zhao,J.,
            Shan,W.S., Myszka,D.G. and Shapiro,L.
  TITLE     G-protein signaling through tubby proteins
  JOURNAL   Science 292 (5524), 2041-2050 (2001)
   PUBMED   11375483
REFERENCE   9  (bases 1 to 3080)
  AUTHORS   Ikeda,S., He,W., Ikeda,A., Naggert,J.K., North,M.A. and
            Nishina,P.M.
  TITLE     Cell-specific expression of tubby gene family members (tub,
            Tulp1,2, and 3) in the retina
  JOURNAL   Invest Ophthalmol Vis Sci 40 (11), 2706-2712 (1999)
   PUBMED   10509669
REFERENCE   10 (bases 1 to 3080)
  AUTHORS   Nishina,P.M., North,M.A., Ikeda,A., Yan,Y. and Naggert,J.K.
  TITLE     Molecular characterization of a novel tubby gene family member,
            TULP3, in mouse and humans
  JOURNAL   Genomics 54 (2), 215-220 (1998)
   PUBMED   9828123
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK024246.1, BC032587.1 and
            AK293285.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003324.4.
            
            Summary: This gene encodes a member of the tubby gene family of
            bipartite transcription factors. Members of this family have been
            identified in plants, vertebrates, and invertebrates, and they
            share a conserved N-terminal transcription activation region and a
            conserved C-terminal DNA and phosphatidylinositol-phosphate binding
            region. The encoded protein binds to phosphoinositides in the
            plasma membrane via its C-terminal region and probably functions as
            a membrane-bound transcription regulator that translocates to the
            nucleus in response to phosphoinositide hydrolysis, for instance,
            induced by G-protein-coupled-receptor signaling. It plays an
            important role in neuronal development and function. Two transcript
            variants encoding distinct isoforms have been identified for this
            gene. [provided by RefSeq, May 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript but encodes the shorter 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 :: SRR1803616.13608.1,
                                           SRR1803612.282310.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000448120.7/ ENSP00000410051.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-986               AK024246.1         25-1010
            987-1541            BC032587.1         984-1538
            1542-1730           AK293285.1         1188-1376
            1731-3080           BC032587.1         1559-2908
FEATURES             Location/Qualifiers
     source          1..3080
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     gene            1..3080
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /note="TUB like protein 3"
                     /db_xref="GeneID:7289"
                     /db_xref="HGNC:HGNC:12425"
                     /db_xref="MIM:604730"
     exon            1..98
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..1386
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tubby-related protein 3; tubby like protein 3"
                     /codon_start=1
                     /product="tubby-related protein 3 isoform 1"
                     /protein_id="NP_003315.2"
                     /db_xref="CCDS:CCDS8519.1"
                     /db_xref="GeneID:7289"
                     /db_xref="HGNC:HGNC:12425"
                     /db_xref="MIM:604730"
                     /translation="MEASRCRLSPSGDSVFHEEMMKMRQAKLDYQRLLLEKRQRKKRL
                     EPFMVQPNPEARLRRAKPRASDEQTPLVNCHTPHSNVILHGIDGPAAVLKPDEVHAPS
                     VSSSVVEEDAENTVDTASKPGLQERLQKHDISESVNFDEETDGISQSACLERPNSASS
                     QNSTDTGTSGSATAAQPADNLLGDIDDLEDFVYSPAPQGVTVRCRIIRDKRGMDRGLF
                     PTYYMYLEKEENQKIFLLAARKRKKSKTANYLISIDPVDLSREGESYVGKLRSNLMGT
                     KFTVYDRGICPMKGRGLVGAAHTRQELAAISYETNVLGFKGPRKMSVIIPGMTLNHKQ
                     IPYQPQNNHDSLLSRWQNRTMENLVELHNKAPVWNSDTQSYVLNFRGRVTQASVKNFQ
                     IVHKNDPDYIVMQFGRVADDVFTLDYNYPLCAVQAFGIGLSSFDSKLACE"
     exon            99..150
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            151..310
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            311..451
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            452..549
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            550..753
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            754..866
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            867..981
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1080
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1252
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..3080
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3057..3062
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /note="hexamer: AATAAA"
     polyA_site      3080
                     /gene="TULP3"
                     /gene_synonym="HRCDF; TUBL3"
                     /note="major polyA site"
ORIGIN      
        1 actctagcga cggcggggaa gagtgtgtac gtggtggggg cttcctcggt ggcgggcatg
       61 gaggcttcgc gctgccggct cagtcccagc ggcgacagtg tcttccatga agaaatgatg
      121 aagatgcgac aggctaagct ggattatcag aggctactac ttgagaagag gcaaaggaaa
      181 aagcgccttg agccatttat ggtgcagccc aatccagaag ccaggctacg tcgggcaaag
      241 ccaagggcca gtgatgagca gactcccttg gtgaactgtc atactcccca cagcaatgtc
      301 atcttacatg gtattgatgg tccagctgct gtcctgaaac cagacgaagt tcatgctcca
      361 tcagtaagct cctctgttgt ggaagaagat gctgaaaaca ccgtggatac tgcttccaag
      421 ccaggacttc aggagcgtct ccaaaagcat gatatctctg aaagtgtgaa cttcgatgag
      481 gagactgatg gaatatccca gtcagcatgt ttagaaagac ccaattctgc atcaagccag
      541 aattcaaccg atacaggcac ttccggttct gctactgccg cccaaccagc tgataacctc
      601 ctgggagaca tagacgacct ggaggacttt gtgtatagtc ctgcccctca aggtgtcaca
      661 gtaagatgtc ggataatccg ggataaaagg ggaatggatc ggggtctctt ccccacctac
      721 tatatgtact tggaaaaaga agaaaatcag aagatatttc ttcttgcagc tagaaagcgg
      781 aaaaagagca aaacagccaa ctaccttatc tccattgatc cagttgattt atctcgtgaa
      841 ggagaaagtt atgtcggcaa gcttagatcc aacctcatgg ggaccaagtt tacagtttat
      901 gaccgtggca tctgccccat gaagggccgg ggtttggtag gagcggccca cacccggcag
      961 gagctggctg ccatctccta tgaaacaaac gtacttggat ttaaaggtcc taggaaaatg
     1021 tctgtgatca ttcctggaat gacactgaat cataagcaga tcccctatca gccacaaaac
     1081 aaccatgaca gtttgctctc aaggtggcag aacagaacta tggaaaatct ggttgagctg
     1141 cacaacaagg cccccgtctg gaacagtgac actcagtcct atgtcctcaa cttccgtggc
     1201 cgggtcactc aggcgtctgt gaagaacttc cagatagtcc acaaaaatga ccctgattat
     1261 atagtcatgc agtttggacg tgtggcagat gacgtgttca cactggatta caactaccca
     1321 ctttgtgcag tacaggcctt tggcatcggt ctttctagct ttgacagtaa gctggcgtgt
     1381 gaatgagaga acagtcaggc agggagccct tctccccaca gagctttcag gagcagacag
     1441 tggcctcccc ttcccctccc tgccccagga cttaaagagc aatagtttgc cccttttgga
     1501 atgatctctg aatatataaa acacacacac aaagagcaat agtttgcccc ttttggaacg
     1561 acccctgaat atataaaaca cacacacgaa gagcaatagt ttgccccttt tggaacgacc
     1621 cctgaatata taaaacacac acgaagagca atagtttgcc ccttttggaa cgacccctga
     1681 atatataaaa cacacacacg aagagcaata gtttgcccct tttggaacga cccctgaata
     1741 tataaaacac acacacaccc cgcgcactct cactcctttt ccaggtttca tagacttggt
     1801 gagggatcac agcttagcat gggtgagaga tgatttaaag cacagggaga ttcttgtcac
     1861 attggggtct ccaaagctag aatgggattt catgtgcttg gaaacttgca gtagaatcag
     1921 ggactgacat cgcagttcct ctcctctctt cattccctca cagcagattg gccggcacca
     1981 atcttagtca agagtggctg tgatcacatt tgtgatcaat tatgtgagaa ttttatataa
     2041 ttgtcttcat ttcaattaag gctgaaagca taaactctag aggtgactca gtcaggactg
     2101 acagtaatgt gataattgcc ttcattttca acccaggagt gcctctcaca gctatatgac
     2161 tacggatcca ttagtgagga gcgacacaca cacctgtagg catcctgtgc aaacactttg
     2221 tcattatcaa gagagatggc agtattgacc atttagttta gttaaaaaaa aaaaaaaaaa
     2281 ggtggcagga gaggctttgg ggaggatcag ccagcagaca tgagcactgc tggcccgtgt
     2341 ggcagagctg tggactttct tctcggctcc ctcaaccctg gctcaggcac agaaggtgtt
     2401 ttgctacgtt tttttgatta ttacacccct ccacgtatta tgtgactctt acaccagttc
     2461 acccttccca gaatgtatcc aaaccttgag aatgcaggag ctctgtgagc tccaccgtca
     2521 gcaccattca gctgcatccc ttgtgcacag aactgtttgc cagcgttggg tgggacaccc
     2581 gtggcggctg ctccctcaga cctcccttct gtggactgac ctctcacctc cgcctgttgt
     2641 tcctgcacca catcagataa gcatgtgaag gagggccaac tggcagctgc gggacccttg
     2701 gcttgtcccc caccgacaag tcccacctgc tgggtgagga cgagactgtt tccatctcag
     2761 gcatgtatcc caccaagtgc ctccctcaca gccatgccca gaagcctcac acctcgtcac
     2821 caccaccacc ccccacccca tcctgaggca ctgcctggca gataaccctg gttggccaca
     2881 gaagctatta atacacgaca gcatgtgggg aaggacttat ggtgggccag gtggacctca
     2941 tcctgcttct tcctccctct ggtttaaaga gatatataaa ctaatttcac ataatttgtg
     3001 tgtgcaggtg attggttttt acataagtcc tatttatacc ttttatatgt tacagaaata
     3061 aaagttaatt tatataaaaa
//
