LOCUS       NM_172027               1962 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ankyrin repeat and BTB domain containing 1 (ABTB1),
            transcript variant 2, mRNA.
ACCESSION   NM_172027
VERSION     NM_172027.3
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 1962)
  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   2  (bases 1 to 1962)
  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   3  (bases 1 to 1962)
  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   4  (bases 1 to 1962)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1962)
  AUTHORS   Kitamura,H., Ozono,E., Iwanaga,R., Bradford,A.P., Okuno,J.,
            Shimizu,E., Kurayoshi,K., Kugawa,K., Toh,H. and Ohtani,K.
  TITLE     Identification of novel target genes specifically activated by
            deregulated E2F in human normal fibroblasts
  JOURNAL   Genes Cells 20 (9), 739-757 (2015)
   PUBMED   26201719
REFERENCE   6  (bases 1 to 1962)
  AUTHORS   Bennett,E.J., Rush,J., Gygi,S.P. and Harper,J.W.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   7  (bases 1 to 1962)
  AUTHORS   Koiwai,K., Maezawa,S., Hayano,T., Iitsuka,M. and Koiwai,O.
  TITLE     BPOZ-2 directly binds to eEF1A1 to promote eEF1A1 ubiquitylation
            and degradation and prevent translation
  JOURNAL   Genes Cells 13 (6), 593-607 (2008)
   PUBMED   18459963
  REMARK    GeneRIF: BPOZ-2 promoted eEF1A1 ubiquitylation and degradation,
            suggesting that eEF1A1 is a substrate of BPOZ-2.
REFERENCE   8  (bases 1 to 1962)
  AUTHORS   Maezawa,S., Hayano,T., Koiwai,K., Fukushima,R., Kouda,K., Kubota,T.
            and Koiwai,O.
  TITLE     Bood POZ containing gene type 2 is a human counterpart of yeast
            Btb3p and promotes the degradation of terminal
            deoxynucleotidyltransferase
  JOURNAL   Genes Cells 13 (5), 439-457 (2008)
   PUBMED   18429817
  REMARK    GeneRIF: Study showed that BPOZ-2 is a human counterpart of yeast
            Btb3p, which is a putative adaptor for Pcu3p-based ubiquitin
            ligase; BPOZ-2 bound to E3 ligase CUL3 in vitro and in vivo.
REFERENCE   9  (bases 1 to 1962)
  AUTHORS   Unoki,M. and Nakamura,Y.
  TITLE     Growth-suppressive effects of BPOZ and EGR2, two genes involved in
            the PTEN signaling pathway
  JOURNAL   Oncogene 20 (33), 4457-4465 (2001)
   PUBMED   11494141
REFERENCE   10 (bases 1 to 1962)
  AUTHORS   Dai,K.S., Wei,W. and Liew,C.C.
  TITLE     Molecular cloning and characterization of a novel human gene
            containing ankyrin repeat and double BTB/POZ domain
  JOURNAL   Biochem Biophys Res Commun 273 (3), 991-996 (2000)
   PUBMED   10891360
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF664138.1, AB053325.1,
            AI337369.1 and BM671027.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_172027.2.
            
            Summary: This gene encodes a protein with an ankyrin repeat region
            and two BTB/POZ domains, which are thought to be involved in
            protein-protein interactions. Expression of this gene is activated
            by the phosphatase and tensin homolog, a tumor suppressor.
            Alternate splicing results in three transcript variants. [provided
            by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (2, also known as BPOZ type 2)
            encodes the longer isoform (2).
            
            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 :: SRR3476690.1171313.1,
                                           SRR3476690.727347.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000232744.13/ ENSP00000232744.8
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                BF664138.1         15-44
            31-1956             AB053325.1         24-1949
            1957-1959           AI337369.1         7-9                 c
            1960-1962           BM671027.1         18-20               c
FEATURES             Location/Qualifiers
     source          1..1962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..1962
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /note="ankyrin repeat and BTB domain containing 1"
                     /db_xref="GeneID:80325"
                     /db_xref="HGNC:HGNC:18275"
                     /db_xref="MIM:608308"
     exon            1..130
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1511
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /note="isoform 2 is encoded by transcript variant 2;
                     elongation factor 1A-binding protein; ankyrin repeat and
                     BTB (POZ) domain containing 1"
                     /codon_start=1
                     /product="ankyrin repeat and BTB/POZ domain-containing
                     protein 1 isoform 2"
                     /protein_id="NP_742024.1"
                     /db_xref="CCDS:CCDS3045.1"
                     /db_xref="GeneID:80325"
                     /db_xref="HGNC:HGNC:18275"
                     /db_xref="MIM:608308"
                     /translation="MDTSDLFASCRKGDVGRVRYLLEQRDVEVNVRDKWDSTPLYYAC
                     LCGHEELVLYLLANGARCEANTFDGERCLYGALSDPIRRALRDYKQVTASCRRRDYYD
                     DFLQRLLEQGIHSDVVFVVHGKPFRVHRCVLGARSAYFANMLDTKWKGKSVVVLRHPL
                     INPVAFGALLQYLYTGRLDIGVEHVSDCERLAKQCQLWDLLSDLEAKCEKVSEFVASK
                     PGTCVKVLTIEPPPADPRLREDMALLADCALPPELRGDLWELPFPCPDGFNSCPDICF
                     RVAGCSFLCHKAFFCGRSDYFRALLDDHFRESEEPATSGGPPAVTLHGISPDVFTHVL
                     YYMYSDHTELSPEAAYDVLSVADMYLLPGLKRLCGRSLAQMLDEDTVVGVWRVAKLFR
                     LARLEDQCTEYMAKVIEKLVEREDFVEAVKEEAAAVAARQETDSIPLVDDIRFHVAST
                     VQTYSAIEEAQQRLRALEDLLVSIGLDC"
     exon            131..193
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            194..249
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            250..394
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            395..554
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            555..600
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            601..717
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            718..836
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            837..935
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1103
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1304
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1962
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1932..1937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /note="hexamer: AATAAA"
     polyA_site      1962
                     /gene="ABTB1"
                     /gene_synonym="BPOZ; BPOZ-2; BTB3; BTBD21; EF1ABP; PP2259"
                     /note="major polyA site"
ORIGIN      
        1 gagcgtgttt acatccgccg ggtgcgcggc ttcgccgccc gaggtcgttc ggctcgggta
       61 ccatcctccg cgccatggac accagcgacc tgttcgccag ctgcaggaag ggggatgtgg
      121 gccgagtgcg gtacctgctg gagcagcgag acgtggaggt gaatgtgcgg gacaagtggg
      181 acagcacccc cttgtactat gcctgcttgt gtgggcacga ggagctggta ctctaccttc
      241 tggccaatgg agcccgctgc gaggccaaca ccttcgatgg tgagcgctgc ctctatgggg
      301 cactgagtga ccccatccgc cgggctctac gcgattacaa gcaggtcacg gcttcctgca
      361 ggaggcggga ttactatgac gacttcttgc agcggcttct agagcagggc atccacagtg
      421 acgtggtctt tgtagtacac gggaagccat tccgggtgca tcgctgcgtc ctgggtgcac
      481 gtagtgccta ctttgccaac atgctggaca ccaaatggaa gggcaagagt gtcgtggttc
      541 tcaggcaccc actgatcaac cccgtggcct ttggggccct gctgcagtac ctgtacacag
      601 gccgcctgga cattggcgta gagcatgtga gtgactgtga gcgcctggcc aagcaatgcc
      661 agctgtggga cctgctcagc gacctggagg ccaagtgcga gaaggtgtct gagtttgtgg
      721 cgtctaagcc aggcacgtgt gtgaaggtgc tgaccatcga gcccccacct gcagaccccc
      781 gcctccggga ggacatggcg ctgctggccg attgtgccct gccccccgag ctccgaggtg
      841 atctttggga gctgcccttc ccttgtcctg acggcttcaa cagctgccct gacatctgct
      901 tccgagtggc tggctgcagc ttcctctgcc acaaggcctt tttctgtggc cgcagtgact
      961 acttccgagc cctgctggat gaccacttcc gagagagcga ggagccagcg acctcagggg
     1021 gccccccagc cgtcaccctg catggcatct cacccgacgt cttcactcac gtgctctact
     1081 acatgtacag cgaccacact gagctgtccc ccgaggcagc ctatgatgtg ctgagcgtcg
     1141 ccgacatgta cctgctgcca ggcctgaaga ggctgtgcgg ccgcagcctg gctcagatgc
     1201 tagacgagga cactgtggtg ggtgtgtggc gcgtggccaa gctcttccgc ctggcgcggc
     1261 ttgaggacca gtgcactgag tacatggcca aggtcattga gaagctggtg gagcgggagg
     1321 acttcgtgga ggcggtgaag gaggaggcag cggctgtggc agcccggcag gagacggact
     1381 ctatcccgct ggtggacgac atccgcttcc acgtggccag cacggtgcag acctacagcg
     1441 ccatagagga ggcgcagcag cgtctgcggg cactcgagga cctgctcgtg tccatcggtc
     1501 tggactgttg agcccctggc tgggcagccc caggggccag gagctctctt ggagacaagc
     1561 atgtgtatgc gtttgtgtgc agctcttctt cctgctccct gcacattgag ggcttcatgg
     1621 ggggtgcgag gggctcagtg gggcttctct tccctccatg agcctggaga ccccagggga
     1681 ggatccattt gggatgagcc ccctcccccc aatgcacaag ccagccccca agaccctggg
     1741 ggtggacacc actcagggaa acctggggtg ggggtgggct ttggtcttag cactttcctt
     1801 ctccagatcc cccctaccca ccccagtccc aaatccagtc ctctggccct tgcctagccc
     1861 tgaattgctt ctctaagctg gtgttcccat gcacagggcc attcaggaag ggctggggga
     1921 gtgtgtgtgg caataaagct tgaaggcacc gtgggagcat ga
//
