LOCUS       NM_014962               4881 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens BTB domain containing 3 (BTBD3), transcript variant 1,
            mRNA.
ACCESSION   NM_014962
VERSION     NM_014962.4
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 4881)
  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   2  (bases 1 to 4881)
  AUTHORS   Wolber,L.E., Girotto,G., Buniello,A., Vuckovic,D., Pirastu,N.,
            Lorente-Canovas,B., Rudan,I., Hayward,C., Polasek,O., Ciullo,M.,
            Mangino,M., Steves,C., Concas,M.P., Cocca,M., Spector,T.D.,
            Gasparini,P., Steel,K.P. and Williams,F.M.
  TITLE     Salt-inducible kinase 3, SIK3, is a new gene associated with
            hearing
  JOURNAL   Hum Mol Genet 23 (23), 6407-6418 (2014)
   PUBMED   25060954
REFERENCE   3  (bases 1 to 4881)
  AUTHORS   Matsui,A., Tran,M., Yoshida,A.C., Kikuchi,S.S., U,M., Ogawa,M. and
            Shimogori,T.
  TITLE     BTBD3 controls dendrite orientation toward active axons in
            mammalian neocortex
  JOURNAL   Science 342 (6162), 1114-1118 (2013)
   PUBMED   24179155
REFERENCE   4  (bases 1 to 4881)
  AUTHORS   Schonrock,N., Humphreys,D.T., Preiss,T. and Gotz,J.
  TITLE     Target gene repression mediated by miRNAs miR-181c and miR-9 both
            of which are down-regulated by amyloid-beta
  JOURNAL   J Mol Neurosci 46 (2), 324-335 (2012)
   PUBMED   21720722
  REMARK    GeneRIF: BTBD3 is repressed by miR-9 and -181c, either alone or in
            combination.
REFERENCE   5  (bases 1 to 4881)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   6  (bases 1 to 4881)
  AUTHORS   Parsa,A., Chang,Y.P., Kelly,R.J., Corretti,M.C., Ryan,K.A.,
            Robinson,S.W., Gottlieb,S.S., Kardia,S.L., Shuldiner,A.R. and
            Liggett,S.B.
  TITLE     Hypertrophy-associated polymorphisms ascertained in a founder
            cohort applied to heart failure risk and mortality
  JOURNAL   Clin Transl Sci 4 (1), 17-23 (2011)
   PUBMED   21348951
REFERENCE   7  (bases 1 to 4881)
  AUTHORS   Wu,C., Xu,B., Yuan,P., Ott,J., Guan,Y., Liu,Y., Liu,Z., Shen,Y.,
            Yu,D. and Lin,D.
  TITLE     Genome-wide examination of genetic variants associated with
            response to platinum-based chemotherapy in patients with small-cell
            lung cancer
  JOURNAL   Pharmacogenet Genomics 20 (6), 389-395 (2010)
   PUBMED   20463552
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 4881)
  AUTHORS   Nakayama,M., Kikuno,R. and Ohara,O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   9  (bases 1 to 4881)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC314595.1, AB023169.1, AL035448.29 and AA127941.1.
            
            On Nov 22, 2018 this sequence version replaced NM_014962.3.
            
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence compared to variant 2. The resulting isoform (a)
            has a shorter and distinct N-terminus compared to isoform d.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.194285.1,
                                           SRR1803613.148290.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378226.7/ ENSP00000367471.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                DC314595.1         29-54
            27-2322             AB023169.1         3-2298
            2323-4728           AL035448.29        40341-42746
            4729-4881           AA127941.1         17-169              c
FEATURES             Location/Qualifiers
     source          1..4881
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.2"
     gene            1..4881
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /note="BTB domain containing 3"
                     /db_xref="GeneID:22903"
                     /db_xref="HGNC:HGNC:15854"
                     /db_xref="MIM:615566"
     exon            1..709
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             384..1952
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /note="isoform a is encoded by transcript variant 1;
                     BTB/POZ domain-containing protein 3; BTB (POZ) domain
                     containing 3"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein 3 isoform a"
                     /protein_id="NP_055777.1"
                     /db_xref="CCDS:CCDS13113.1"
                     /db_xref="GeneID:22903"
                     /db_xref="HGNC:HGNC:15854"
                     /db_xref="MIM:615566"
                     /translation="MVDDKEKNMKCLTFFLMLPETVKNRSKKSSKKANTSSSSSNSSK
                     LPPVCYEIITLKTKKKKMAADIFPRKKPANSSSTSVQQYHQQNLSNNNLIPAPNWQGL
                     YPTIRERNAMMFNNDLMADVHFVVGPPGGTQRLPGHKYVLAVGSSVFHAMFYGELAED
                     KDEIRIPDVEPAAFLAMLKYIYCDEIDLAADTVLATLYAAKKYIVPHLARACVNFLET
                     SLSAKNACVLLSQSCLFEEPDLTQRCWEVIDAQAELALKSEGFCDIDFQTLESILRRE
                     TLNAKEIVVFEAALNWAEVECQRQDLALSIENKRKVLGKALYLIRIPTMALDDFANGA
                     AQSGVLTLNETNDIFLWYTAAKKPELQFVSKARKGLVPQRCHRFQSCAYRSNQWRYRG
                     RCDSIQFAVDKRVFIAGFGLYGSSCGSAEYSAKIELKRQGVVLGQNLSKYFSDGSSNT
                     FPVWFEYPVQIEPDTFYTASVILDGNELSYFGQEGMTEVQCGKVTVQFQCSSDSTNGT
                     GVQGGQIPELIFYA"
     exon            710..800
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /inference="alignment:Splign:2.1.0"
     exon            801..919
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /inference="alignment:Splign:2.1.0"
     exon            920..4881
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4863..4868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /note="hexamer: AATAAA"
     polyA_site      4881
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /note="major polyA site"
ORIGIN      
        1 accacacaac ttcagccggc tgaacagact cacgcagctc cagcccatct tgctgaccta
       61 attcagaaaa gaagtgctac agctctgtgc ctgtcatctt tgcagtgtag cattttcagg
      121 tgatctagga aacagttatt tttatgagca aataagagaa acaggaatca tgatggggat
      181 atatttaaca gacccagtac tggataaaac ttaaagccag tttctattca acatagtgaa
      241 aaggtcacct tgcctggctg agaaaagcag caaaatatca gctttgttgg tttcagttaa
      301 cctcttagcc cgggctaatc tcttttcctt gatgttcaaa ccaatttggg atatctaact
      361 ctaaagagag acacactgta ctcatggtag atgacaagga aaagaacatg aaatgtctca
      421 ccttcttctt gatgcttcca gagacggtaa agaacaggtc caagaaaagc tcaaagaaag
      481 caaataccag cagcagcagt agcaacagca gcaagttgcc accagtttgt tatgaaataa
      541 ttaccttgaa gactaaaaag aagaagatgg ctgctgatat attcccccgt aaaaagccag
      601 ccaactccag cagcaccagc gtccagcagt accaccagca gaatctcagt aacaacaacc
      661 ttatcccggc cccaaactgg cagggtcttt atcccaccat tagagagaga aatgcgatga
      721 tgttcaataa tgatttgatg gcagatgtac attttgtggt tgggccacca ggtgggactc
      781 aacggttgcc aggacacaaa tatgttttag ctgttgggag ctctgtgttc catgcgatgt
      841 tttacggaga acttgcagag gacaaagatg aaatccgtat accagatgtc gaacctgctg
      901 cttttctcgc tatgctgaaa tatatctatt gtgatgaaat tgacttggct gctgacacag
      961 tgctggccac actttatgct gccaaaaagt acattgtccc tcaccttgcc agagcctgtg
     1021 ttaatttcct ggagaccagc ctgagtgcca agaatgcctg tgtgctcctc tcccagagct
     1081 gcctgttcga ggagccagac ctgacccagc gttgctggga ggtgattgat gcccaggctg
     1141 agttagctct caagtctgag ggattctgcg atattgactt ccagacacta gaaagtattc
     1201 tccgtaggga aactctgaat gccaaagaaa ttgtggtttt tgaggcagct ctcaactggg
     1261 ctgaagtaga atgccaacga caagatctgg cgttgagcat tgaaaataaa cgcaaggttc
     1321 taggaaaggc actttacttg atccgcatac ccacaatggc cctcgatgat tttgcaaatg
     1381 gtgctgcaca gtccggggta ttaactctca atgagaccaa cgacatcttc ctctggtata
     1441 ctgcagccaa aaagcctgag cttcagtttg tgagtaaagc ccgtaagggc cttgtccccc
     1501 agcgctgtca ccgtttccag tcgtgtgcct atcgaagcaa ccaatggcgc tatcgtggtc
     1561 gctgtgacag catccagttt gcagttgata aaagagtgtt cattgctggc tttgggctgt
     1621 atggctccag ctgtggttct gcagaataca gtgccaagat tgaacttaag cggcagggcg
     1681 ttgtcctggg gcagaacttg agcaagtact tctcagatgg gtccagcaat acctttcccg
     1741 tatggtttga atacccagtg cagatcgagc cagacacctt ctacacagcc agtgtgatac
     1801 tggatggcaa tgaactcagc tactttggac aagaaggcat gacagaagtt cagtgtggca
     1861 aagtgactgt ccagtttcag tgctcctcag atagcaccaa tggcactggg gtacagggag
     1921 ggcagatccc tgaacttata ttctatgctt gaaaactcac ttcctgaagc agcttgagct
     1981 ccaaagtgca catctggttc caacttgcct gatgcttagc tcatctgcaa atatgtgatc
     2041 agtgccggta atttgtaatg aatgaagcgg taggcaggtt ctaatttctt ttaacctttt
     2101 aattatgtac aggcaaaaat gcagcattcc gcttttaact atctgcttaa aagagctaac
     2161 gttcttatta aggctttgtg gtttttagag ttgcatctat gaacctgggg agattatgtg
     2221 ctttcccaag cgttccacca ccctctcagt tttgtccctc tgaagataat tttggatcac
     2281 cttgaatttc cttttggacg ttatttgatg aacagaaata aagtgataac aagagttatt
     2341 tttaaacaga actcctctta ccccccaaaa cagataaacc tcagtgtaca attttgaaag
     2401 aagttttgcc ttgtaatgag taataattta gaaagtagac agtggttgtg tttggctctc
     2461 gttttattcc ttttacattt gttgcttctg ggatttaaaa aattactaaa ttcataagat
     2521 agttaggtat taaacacttc agaatatcaa tgtaaaattg gaaaataagg aactgggggc
     2581 atttgtttag gccatgactt ctacaagcag atttcttttc ttttagttta gaagacaaaa
     2641 aatttcaata cagatacttc ttttagaagt aaatttttag attttattgt cagtagaaaa
     2701 aagttaaact cctactaatt taaactaaga cagtttaaaa aggaagcctg aaaaagactc
     2761 atactacaaa taatttaatt gatggcatat aagaatatgc agtttgaaaa agccaaactc
     2821 ttctctccac ttagcttttg atccccactg tttgcttatt tgtataagtc atactgtgta
     2881 gaatttctat tttctttttc cccattaaaa gaggaccaaa caattcttta tacaaatgga
     2941 gtagcaacta gttttgtagc actacattta atgtaatgag atacctttgt tcattttttt
     3001 aaatttgaaa tatactttac ctgatccact ttgattgtat actatattct ttgttaattt
     3061 taattttgtc ctgttcctag actgctagaa tctggcccct ggccatctta aagtgccaac
     3121 atatgcctgc agggtttata aaaaatggcc tggagtgaca cattttatta tacctaatat
     3181 tcactgcatc agtatcacat ctagctccct tacttgtcca cagataatgt aaacaaagga
     3241 gggaaaaact tattaaattc tccttcgctg ctggcttgtg ctggtttagt gcctgtgtcc
     3301 ctggcagtgt ccagtgtgtt cacttccagt tgaagtatcc atgtgtttct gggcagcttt
     3361 tctgctcagt gtgatcctga gatggcttcc ccgccgccac ccagagtgtg gtccttggcc
     3421 gcctcctgct cctgctctgc aagcctgaaa ctggcttgtc tggagccagg agttagtcct
     3481 ggggtgtgtg tgtgcctgcg cacccatgcg catgcaagtg tgtttgccag ctcaggagct
     3541 gtctcctctc tacctggcta gtaagaggtg ggacagtaat ggtcctcctg ctggccccag
     3601 caaggcccat gagtgactgc cctgacgtat tcactgtgcc tctgggccac ttcttcccct
     3661 gtagatgtgg gcttgttgcc ttcagccggc ttccctgagg gaggagaaca ctggattatt
     3721 ggaaatgttt taatcactct tgccattacc tacatctatt agcatagatg atgaaaagct
     3781 gttactggtg attatagatg agtatttcca ggacaacgtt ctaaaagtac aattatttct
     3841 tattggggag attacaggta gtttggcaaa gcattgaagt acaaaggtac attttcaatt
     3901 aaaaagcaca cttctacaaa agatttggtt tttaaattat ggttacacat ttcagtaact
     3961 catagctgct gtgcaaattg gtagacctta taagaaggca cttgtttgta agccagagaa
     4021 gaaactttaa ttgcatccta tcagattgtt gaggtgggtg tgatagtctt caggtgcagt
     4081 gcgttcattc actaacgctc actgtcagtg cccatgtttg ctagctgcct ccatgtgact
     4141 agtgagctgc tggtgaaagt cgtgtgaaat cctgtacact gtgtatagaa taatgtaatt
     4201 ttatgttaat tgttattact ttaaaacata tctaccatct gattggctgg taccgagagc
     4261 tgtgggtaaa atttgaaaat tgtatttaga ataagaaatt ttacatttta aaccctattg
     4321 tcctttatgc attttcaatg aaatggaatg aaggctaata tgcttgcttt atttactttt
     4381 gtaatcttgg attttgtagc ttttaaaact agaaaccatt gttctaacaa agcaggcaac
     4441 tttattctat aaacacaact ttattaagca gaatacactg tagatgcttt tccccaacgt
     4501 atctggctgg cagtctttgt cgttgttcat tctggggata aaggggaact aggctagcag
     4561 ttctaatgtg acattcttta agcatatctt aaaatagtat ttaagtaaat ggtctaattt
     4621 ctacataatt attgcactga acttttttgt ttattaaggt gtttaaataa gctcagctaa
     4681 ttcaagacac tgtagccact tgtgcatcag tgtgcttgaa tttagtagct tacagcatta
     4741 tttatgaagg aaaaaataca taaatatgaa gtacctcatg ttgaatgtta ttgtactgta
     4801 tttttaatgt aacagtgcag atcttgttag acacatgaat gtgtataatc atgttaaatg
     4861 caaataaaac tagttcatag a
//
