LOCUS       NM_025238               3194 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens BTB domain containing 1 (BTBD1), transcript variant 1,
            mRNA.
ACCESSION   NM_025238 NM_017942
VERSION     NM_025238.4
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 3194)
  AUTHORS   Hsu,Y.H., Pintacuda,G., Liu,R., Nacu,E., Kim,A., Tsafou,K.,
            Petrossian,N., Crotty,W., Suh,J.M., Riseman,J., Martin,J.M.,
            Biagini,J.C., Mena,D., Ching,J.K.T., Malolepsza,E., Li,T.,
            Singh,T., Ge,T., Egri,S.B., Tanenbaum,B., Stanclift,C.R.,
            Apffel,A.M., Carr,S.A., Schenone,M., Jaffe,J., Fornelos,N.,
            Huang,H., Eggan,K.C. and Lage,K.
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium;
            Stanley Global Asia Initiatives
  TITLE     Using brain cell-type-specific protein interactomes to interpret
            neurodevelopmental genetic signals in schizophrenia
  JOURNAL   iScience 26 (5), 106701 (2023)
   PUBMED   37207277
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3194)
  AUTHORS   Swaney,D.L., Ramms,D.J., Wang,Z., Park,J., Goto,Y., Soucheray,M.,
            Bhola,N., Kim,K., Zheng,F., Zeng,Y., McGregor,M., Herrington,K.A.,
            O'Keefe,R., Jin,N., VanLandingham,N.K., Foussard,H., Von Dollen,J.,
            Bouhaddou,M., Jimenez-Morales,D., Obernier,K., Kreisberg,J.F.,
            Kim,M., Johnson,D.E., Jura,N., Grandis,J.R., Gutkind,J.S.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein network map of head and neck cancer reveals PIK3CA mutant
            drug sensitivity
  JOURNAL   Science 374 (6563), eabf2911 (2021)
   PUBMED   34591642
REFERENCE   3  (bases 1 to 3194)
  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 3194)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3194)
  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   6  (bases 1 to 3194)
  AUTHORS   Furukawa,M., He,Y.J., Borchers,C. and Xiong,Y.
  TITLE     Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin
            ligases
  JOURNAL   Nat Cell Biol 5 (11), 1001-1007 (2003)
   PUBMED   14528312
REFERENCE   7  (bases 1 to 3194)
  AUTHORS   Xu,L., Yang,L., Moitra,P.K., Hashimoto,K., Rallabhandi,P., Kaul,S.,
            Meroni,G., Jensen,J.P., Weissman,A.M. and D'Arpa,P.
  TITLE     BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the
            RBCC/tripartite motif protein, TRIM5delta
  JOURNAL   Exp Cell Res 288 (1), 84-93 (2003)
   PUBMED   12878161
  REMARK    GeneRIF: subcellular colocalization of BTBD1 and BTBD2 to
            cytoplasmic bodies; TRIM5delta colocalized with BTBD1/2 and
            appeared to serve as a scaffold for the assembly of endogenous
            BTBD1/2 proteins
REFERENCE   8  (bases 1 to 3194)
  AUTHORS   Xu,L., Yang,L., Hashimoto,K., Anderson,M., Kohlhagen,G., Pommier,Y.
            and D'Arpa,P.
  TITLE     Characterization of BTBD1 and BTBD2, two similar
            BTB-domain-containing Kelch-like proteins that interact with
            Topoisomerase I
  JOURNAL   BMC Genomics 3, 1 (2002)
   PUBMED   11818025
REFERENCE   9  (bases 1 to 3194)
  AUTHORS   Carim-Todd,L., Sumoy,L., Andreu,N., Estivill,X. and Escarceller,M.
  TITLE     Identification and characterization of BTBD1, a novel BTB domain
            containing gene on human chromosome 15q24
  JOURNAL   Gene 262 (1-2), 275-281 (2001)
   PUBMED   11179693
REFERENCE   10 (bases 1 to 3194)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI553790.1, BC028097.1 and
            AF257241.1.
            
            On May 17, 2019 this sequence version replaced NM_025238.3.
            
            Summary: The C-terminus of the protein encoded by this gene binds
            topoisomerase I. The N-terminus contains a proline-rich region and
            a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox
            virus and Zinc finger), both of which are typically involved in
            protein-protein interactions. Subcellularly, the protein localizes
            to cytoplasmic bodies. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2008].
            
            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 :: SRR1803617.63500.1,
                                           SRR1803617.257145.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261721.9/ ENSP00000261721.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                BI553790.1         108-177
            71-2133             BC028097.1         73-2135
            2134-3008           AF257241.1         2115-2989
            3009-3194           AF257241.1         2991-3176
FEATURES             Location/Qualifiers
     source          1..3194
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..3194
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /note="BTB domain containing 1"
                     /db_xref="GeneID:53339"
                     /db_xref="HGNC:HGNC:1120"
                     /db_xref="MIM:608530"
     exon            1..502
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..1550
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hepatitis C virus NS5A-transactivated protein 8; BTB/POZ
                     domain-containing protein 1; HCV NS5A-transactivated
                     protein 8; BTB (POZ) domain containing 1"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein 1 isoform 1"
                     /protein_id="NP_079514.1"
                     /db_xref="CCDS:CCDS10322.1"
                     /db_xref="GeneID:53339"
                     /db_xref="HGNC:HGNC:1120"
                     /db_xref="MIM:608530"
                     /translation="MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREP
                     LYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRIPAHRFVLAAGSA
                     VFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAV
                     PALEAHCVEFLTKHLRADNAFMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTD
                     IDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGKALSLIR
                     FPLMTIEEFAAGPAQSGILSDREVVNLFLHFTVNPKPRVEYIDRPRCCLRGKECCINR
                     FQQVESRWGYSGTSDRIRFTVNRRISIVGFGLYGSIHGPTDYQVNIQIIEYEKKQTLG
                     QNDTGFSCDGTANTFRVMFKEPIEILPNVCYTACATLKGPDSHYGTKGLKKVVHETPA
                     ASKTVFFFFSSPGNNNGTSIEDGQIPEIIFYT"
     exon            503..659
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /inference="alignment:Splign:2.1.0"
     exon            660..765
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /inference="alignment:Splign:2.1.0"
     exon            766..963
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1156
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1244
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1391
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..3194
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2105..2110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /note="hexamer: AATAAA"
     polyA_site      2125
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /note="major polyA site"
     regulatory      2405..2410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /note="hexamer: AATAAA"
     polyA_site      2429
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /note="major polyA site"
     regulatory      2722..2727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /note="hexamer: ATTAAA"
     polyA_site      2745
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
     regulatory      3114..3119
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
                     /note="hexamer: AAGAAA"
     polyA_site      3159
                     /gene="BTBD1"
                     /gene_synonym="C15orf1; NS5ATP8"
ORIGIN      
        1 gcctttcccg gaaggcaggg aggcagcgcc ggcctccgga ggcggcctgg gcgatggcgg
       61 cggagttttg tccataacgt gggcaaccgc gcagctggag gatggcctca ctcgggcctg
      121 ccgcagctgg ggagcaggcg tcgggggctg aggcggagcc gggccccgcg gggccgccgc
      181 cgccgccctc accgtcctct ctggggcccc tgctccccct gcagcgggaa cctctctaca
      241 actggcaggc gaccaaggcg tcgctgaagg agcgcttcgc cttcctcttc aactcggagc
      301 tgctgagcga tgtgcgcttc gtactgggca agggtcgcgg cgccgccgcc gctgggggcc
      361 cgcagcgcat ccccgcccac cgcttcgtgc tggcggccgg cagcgccgtc tttgacgcca
      421 tgttcaacgg cggcatggcc accacgtcgg ccgagatcga gctgccggac gtggagcccg
      481 cagccttcct ggcgctgctg agatttctat attcagatga agttcaaatt ggtccagaaa
      541 cagttatgac cactctttat actgccaaga aatacgcagt cccagccttg gaagcacact
      601 gtgtagaatt tctcaccaaa catcttaggg cagataatgc ctttatgtta cttactcagg
      661 ctcgattatt tgatgaacct cagcttgcta gtctttgtct agatacaata gacaaaagca
      721 caatggatgc aataagtgca gaagggttta ctgatattga tatagataca ctctgtgcag
      781 ttttagagag agacacactc agtattcgag aaagtcgact ttttggagct gttgtacgct
      841 gggcagaagc agaatgtcag agacaacaat tacctgtgac ttttgggaat aaacaaaaag
      901 ttctaggaaa agcactttcc ttaatccggt tcccactgat gacaattgag gaatttgcag
      961 caggtcctgc tcaatctgga attttgtcag atcgtgaagt ggtaaacctc tttcttcatt
     1021 ttactgtcaa ccctaaaccc cgagttgaat acattgaccg accaagatgc tgtctcaggg
     1081 gaaaggaatg ctgcatcaat agattccagc aagtagaaag ccgctggggt tacagtggga
     1141 cgagtgatcg aatcagattc acagttaata gaaggatctc tatagttgga tttggcttgt
     1201 atggatctat tcatggccct acagattatc aagtgaatat acagatcatt gaatatgaga
     1261 aaaagcaaac cctgggacag aatgataccg gctttagttg tgatgggaca gctaacacat
     1321 tcagggtcat gttcaaggaa cccatagaga tcctgcccaa tgtgtgctac acagcatgtg
     1381 caacactcaa aggtccagat tcccactatg gcacaaaagg attgaagaaa gtagtgcatg
     1441 agacacctgc tgcaagcaag actgtttttt tcttttttag ttcccctggc aataataatg
     1501 gcacttcaat agaagatgga caaattccag aaatcatatt ttatacataa tttagcatta
     1561 taatacatct tggctaaata ataccataca atctagtgtc aaaaacataa atggccacaa
     1621 aaaagtagtt tgagtgttat gaatatttaa aattgtaaga taagaaacag tttcttagag
     1681 cagatagaaa aatgcttatt taaatctttg catgatttaa aaacagattt tccattttct
     1741 tacaacttta agagaaaaga actgggttta atggtttaaa aaaaagcaca gctttttcac
     1801 cttcatcttg tataatttca tagattggct gacttagggt ctttcaatag tttgggaatt
     1861 gaaagattct tgttatatat agctagtttg ggtttgtttt tgttttaact attttgaagg
     1921 ttaggtgaga tgggcaaata ggcttaacta ttttgaaggt tggatgaaaa gagatgggtc
     1981 agtattccta cagaattctt attaactcaa ataactaaat ttcagaaaat taagaagctg
     2041 actttatatt tggtggtttg aagtatcttg ttgttagcat ttgtaataat gctaaaaaag
     2101 gcctaataaa atgcccaaga aaatattcag tgcatttata gagaaggata ttttgtagta
     2161 gtatagtaat gtgttatgta gtacagtttt aaagctataa atggaatttt gtgtaaattc
     2221 acaaaaatgt gatataaaca ggatctaaga ctggattccc tgtcactaaa ctgcaccact
     2281 atacctgtct ctctgtgtgg gggacactgc tgatgattcc caagattgag atgatgacgg
     2341 tgatgacgac tgggtgaaca gccatcactt caacattgtg ataatccttc acagcaagaa
     2401 accgaataaa atactaacat ttctaacaac tgctctgaca ttgtaaagag atccaacaga
     2461 atcactcctg ctgaaaaata cgctttctgc cacctacaca tttctattta ggaagtaaaa
     2521 tttgcttcat ggtcatgacc ccattagtca gtgttacagc tgtgttgggg ataggaagta
     2581 tatctggcag attgatattt atacactttt ttataaagca gattttaaaa tatagtaaca
     2641 tccatttttt tcccttgaaa gtgattctct tataaaaaat gaaagtggag tttaaggtat
     2701 atcaaatcgt tgtggaaggt gattaaaaat caaaattctt ttaaatatca acttaatttt
     2761 ttctaagtaa gatacaaaaa attttcatct aaagtaatat ttcactttat attgtaaaga
     2821 aggtaggtat attggtggct gaggtctctt gaaattgcta aagggaaatt tttctatggt
     2881 aatgctctta cggatataaa cctcagttaa atggaattat ctatgggatg tgtggttctg
     2941 gttaactaaa aattaaccag taaacactct gtagtaacca ttacagaaaa tacttctgcc
     3001 ttaaaaaata tgatatgcca gagatgagtt agtgtttctt gacgttggag accttttaaa
     3061 tgcctcatct gttgtactga acaattgaaa ctgcatgcag ccataaaagg gacaagaaac
     3121 agaactgttt actaactttg ggacatcccc tggagttttt aaaaataaat aaatatatat
     3181 atatataaaa aaaa
//
