LOCUS       NM_001018072            5746 bp    mRNA    linear   PRI 02-DEC-2024
DEFINITION  Homo sapiens ankyrin repeat and BTB domain containing 3 (ABTB3),
            transcript variant a, mRNA.
ACCESSION   NM_001018072
VERSION     NM_001018072.2
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 5746)
  AUTHORS   Bygrave,A.M., Sengupta,A., Jackert,E.P., Ahmed,M., Adenuga,B.,
            Nelson,E., Goldschmidt,H.L., Johnson,R.C., Zhong,H., Yeh,F.L.,
            Sheng,M. and Huganir,R.L.
  TITLE     Btbd11 supports cell-type-specific synaptic function
  JOURNAL   Cell Rep 42 (6), 112591 (2023)
   PUBMED   37261953
REFERENCE   2  (bases 1 to 5746)
  AUTHORS   Cobb,J., Cule,E., Moncrieffe,H., Hinks,A., Ursu,S., Patrick,F.,
            Kassoumeri,L., Flynn,E., Bulatovic,M., Wulffraat,N., van Zelst,B.,
            de Jonge,R., Bohm,M., Dolezalova,P., Hirani,S., Newman,S.,
            Whitworth,P., Southwood,T.R., De Iorio,M., Wedderburn,L.R. and
            Thomson,W.
  CONSRTM   Childhood Arthritis Response to Medication Study (CHARMS);
            Childhood Arthritis Prospective Study (CAPS); BSPAR study group
  TITLE     Genome-wide data reveal novel genes for methotrexate response in a
            large cohort of juvenile idiopathic arthritis cases
  JOURNAL   Pharmacogenomics J 14 (4), 356-364 (2014)
   PUBMED   24709693
REFERENCE   3  (bases 1 to 5746)
  AUTHORS   Need,A.C., Attix,D.K., McEvoy,J.M., Cirulli,E.T., Linney,K.L.,
            Hunt,P., Ge,D., Heinzen,E.L., Maia,J.M., Shianna,K.V., Weale,M.E.,
            Cherkas,L.F., Clement,G., Spector,T.D., Gibson,G. and
            Goldstein,D.B.
  TITLE     A genome-wide study of common SNPs and CNVs in cognitive
            performance in the CANTAB
  JOURNAL   Hum Mol Genet 18 (23), 4650-4661 (2009)
   PUBMED   19734545
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC027931.1, AI638039.1, AK124835.1, AK127012.1 and AK122818.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001018072.1.
            
            Transcript Variant: This variant (a) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2144120,
                              SAMEA2145240 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280758.10/ ENSP00000280758.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1464              BC027931.1         15-1478
            1465-1588           AI638039.1         1-124
            1589-2366           AK124835.1         71-848
            2367-3108           AK127012.1         291-1032
            3109-5746           AK122818.1         1560-4197
FEATURES             Location/Qualifiers
     source          1..5746
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     gene            1..5746
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="ankyrin repeat and BTB domain containing 3"
                     /db_xref="GeneID:121551"
                     /db_xref="HGNC:HGNC:23844"
                     /db_xref="MIM:621028"
     exon            1..1642
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     CDS             508..3822
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="isoform a is encoded by transcript variant a;
                     ankyrin repeat and BTB/POZ domain-containing protein
                     BTBD11; ANK-repeat BTB domain containing protein; BTB/POZ
                     domain-containing protein 11; BTB (POZ) domain containing
                     11; BTB domain containing 11; ankyrin repeat and BTB/POZ
                     domain-containing protein 3"
                     /codon_start=1
                     /product="ankyrin repeat and BTB/POZ domain-containing
                     protein 3 isoform a"
                     /protein_id="NP_001018082.1"
                     /db_xref="CCDS:CCDS31893.1"
                     /db_xref="GeneID:121551"
                     /db_xref="HGNC:HGNC:23844"
                     /db_xref="MIM:621028"
                     /translation="MARRGKKPVVRTLEDLTLDSGYGGAADSVRSSNLSLCCSDSHPA
                     SPYGGSCWPPLADSMHSRHNSFDTVNTALVEDSEGLDCAGQHCSRLLPDLDEVPWTLQ
                     ELEALLLRSRDPRAGPAVPGGLPKDALAKLSTLVSRALVRIAKEAQRLSLRFAKCTKY
                     EIQSAMEIVLSWGLAAHCTAAALAALSLYNMSSAGGDRLGRGKSARCGLTFSVGRVYR
                     WMVDSRVALRIHEHAAIYLTACMESLFRDIYSRVVASGVPRSCSGPGSGSGSGPGPSS
                     GPGAAPAADKEREAPGGGAASGGACSAASSASGGSSCCAPPAAAAAAVPPAAAANHHH
                     HHHHALHEAPKFTVETLEHTVNNDSEIWGLLQPYQHLICGKNASGVLCLPDSLNLHRD
                     PQRSNKPGELPMFSQSELRTIEQSLLATRVGSIAELSDLVSRAMHHLQPLNAKHHGNG
                     TPLHHKQGALYWEPEALYTLCYFMHCPQMEWENPNVEPSKVNLQVERPFLVLPPLMEW
                     IRVAVAHAGHRRSFSMDSDDVRQAARLLLPGVDCEPRQLRADDCFCASRKLDAVAIEA
                     KFKQDLGFRMLNCGRTDLVKQAVSLLGPDGINTMSEQGMTPLMYACVRGDEAMVQMLL
                     DAGADLNVEVVSTPHKYPSVHPETRHWTALTFAVLHGHIPVVQLLLDAGAKVEGSVEH
                     GEENYSETPLQLAAAVGNFELVSLLLERGADPLIGTMYRNGISTTPQGDMNSFSQAAA
                     HGHRNVFRKLLAQPEKEKSDILSLEEILAEGTDLAETAPPPLCASRNSKAKLRALREA
                     MYHSAEHGYVDVTIDIRSIGVPWTLHTWLESLRIAFQQHRRPLIQCLLKEFKTIQEEE
                     YTEELVTQGLPLMFEILKASKNEVISQQLCVIFTHCYGPYPIPKLTEIKRKQTSRLDP
                     HFLNNKEMSDVTFLVEGRPFYAHKVLLFTASPRFKALLSSKPTNDGTCIEIGYVKYSI
                     FQLVMQYLYYGGPESLLIKNNEIMELLSAAKFFQLEALQRHCEIICAKSINTDNCVDI
                     YNHAKFLGVTELSAYCEGYFLKNMMVLIENEAFKQLLYDKNGEGTGQDVLQDLQRTLA
                     IRIQSIHLSSSKGSVV"
     exon            1643..1792
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            1793..1997
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            1998..2150
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            2151..2316
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            2317..2406
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            2407..2508
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            2509..2602
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            2603..2738
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            2739..2959
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            2960..3138
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            3139..3244
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            3245..3347
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            3348..3429
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            3430..3498
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            3499..3612
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     exon            3613..5746
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5722..5727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="hexamer: ATTAAA"
     polyA_site      5746
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="major polyA site"
ORIGIN      
        1 gccacggccg ctgctgcgct ccggtgcagg gcaggctggc gccgagcgaa ccagggccgg
       61 gaactgggag ccgggagccg ggagccagct gcccgcggag ctgcggcggc ggcggcatct
      121 ggggtggtct cagtcccacg aacaccgtgg ccggcgcccg gtggctactg cgcccagcgg
      181 ggctcaggga agagcggtct agacactttt tattttggaa gaaaggggca agccccggcg
      241 ggagcttcct tcccggcctg gctcgctccc cattgcgccc agctccggcc cggactctgg
      301 aagatgactc cagggtctgc tctgtatatt ccagcggcgg cagttccggg aggcagccga
      361 aagtactaac agttggtagc agcggctagt ggaaaagtga gccaaggcgg cgcggactcg
      421 gctctccccg cgccccgcgg cactcgctgc tcctcgccgc tccttccctt tggctcccag
      481 gcggctgcag catgaagtgg cgcagcgatg gccaggagag gtaagaagcc cgtggtgaga
      541 acgctggagg atctgacgct ggactcgggt tatggtggcg cggcggactc ggtgcgctcc
      601 tccaacttgt ctttgtgctg ttccgactcg cacccggcgt ccccgtatgg cgggagctgc
      661 tggccgcctc tagctgactc catgcacagc cggcacaaca gctttgacac tgtcaacact
      721 gccctggtgg aagactccga ggggctggac tgcgccggcc agcactgctc gcggctgctg
      781 ccggacctag acgaggtccc ctggactctc caggagctgg aggcgctgct gctgcgttcg
      841 cgggatcccc gggcaggccc ggcggtcccc ggcggcctgc ccaaggacgc gctggccaag
      901 ctgtcgacgc tggtgagccg ggcgctggtg cgcatagcca aagaggcgca gcgcctgagc
      961 ctgcgcttcg ccaagtgcac caagtacgag atccagagcg ccatggagat cgtgctgtcc
     1021 tggggcctgg ccgcgcactg tacggcggct gcgctggccg cactgtccct ctacaacatg
     1081 agcagcgccg gcggcgaccg cctgggccgc ggcaagtcgg cccgctgcgg cctcaccttc
     1141 tccgtgggcc gcgtgtatcg ctggatggtg gacagccgcg tggcgctgcg catccacgag
     1201 cacgccgcca tctacctgac agcctgcatg gagagcctct tccgggacat ctactcgcgg
     1261 gtcgtggcct ccggggtgcc ccggagctgc agtggccctg ggtcaggctc gggctccggc
     1321 ccaggcccga gctcgggccc tggtgcggcc cccgcggcgg ataaagagcg ggaggcgccc
     1381 gggggaggag cggcgagcgg cggcgcctgc agcgcagcca gcagcgccag cgggggcagc
     1441 agctgttgcg ccccgccggc cgccgcggcc gccgcagtcc cgccggcagc cgccgccaac
     1501 caccaccatc accaccacca tgcgctccac gaggcgccca agttcaccgt ggagaccctg
     1561 gagcacacgg tcaacaacga ctcggagatc tggggtctcc tgcagcccta ccagcacctg
     1621 atctgcggga agaacgccag cggggtgctg tgcctaccag acagcctgaa tcttcacaga
     1681 gacccacagc ggtcaaacaa gccaggggaa ctgcccatgt tcagccagtc ggagctgagg
     1741 accatcgagc agtctttgct ggccacgcgc gtaggcagca tcgccgaatt gagtgacctg
     1801 gtgtcccgtg caatgcatca cctgcagccc ctcaatgcca agcaccacgg caatggcacc
     1861 cccctgcacc acaagcaggg ggcactgtac tgggagcccg aggccctgta caccctttgc
     1921 tatttcatgc actgcccaca aatggaatgg gaaaacccca acgtggagcc ttccaaagtc
     1981 aacctccagg tggaaaggcc cttcctcgtg ctgccgccgc tgatggagtg gatccgggtg
     2041 gccgtggcgc acgccggcca ccgccgcagc ttctccatgg acagcgacga cgtccgccag
     2101 gcggcccggc tgctgctgcc cggcgtggac tgcgagccgc gccagctcag ggccgacgac
     2161 tgcttttgtg catctcgaaa gctggatgcg gtggccatcg aagccaagtt taagcaggac
     2221 ctgggtttcc ggatgctgaa ctgtggacga acagacctgg tgaagcaggc agtgtctctg
     2281 ctggggcccg atgggatcaa caccatgagc gaacagggca tgactcccct gatgtatgcc
     2341 tgcgtccgtg gggacgaggc gatggttcag atgctgctgg atgccggagc tgacctgaat
     2401 gtggaggttg tcagtactcc tcataaatat ccatccgtcc accccgagac ccgccattgg
     2461 acggctctga cttttgctgt gttgcatgga catattcctg tagttcagct cctcctggat
     2521 gctggggcca aggtggaagg ctcagtggag catggcgagg agaactactc ggaaacaccc
     2581 ctccagctgg cagctgctgt aggaaatttt gagctggtta gtttgctgtt ggagcgtggt
     2641 gccgatcccc tgataggaac catgtacagg aatggaattt ctacaacccc ccagggtgat
     2701 atgaactctt tcagccaggc tgcagcccac ggacacagga atgtgttccg caaactgctc
     2761 gcccagccag agaaggagaa gagtgatatc ctgtccctgg aggagattct ggccgagggg
     2821 actgacctgg cggagacagc cccgcccccc ttgtgcgcca gccgcaacag caaggccaaa
     2881 ctgagggccc tgagggaggc catgtatcac agcgctgagc atggctacgt ggatgtcaca
     2941 attgatatca ggagcatagg cgtcccgtgg actctgcaca cgtggctgga gtctttgcgg
     3001 atcgccttcc agcagcaccg caggcctctc atccagtgct tgttaaagga gtttaagacc
     3061 attcaggagg aggaatacac ggaggagctc gttacccaag gcctgcccct gatgtttgag
     3121 atcctgaaag cgagcaagaa tgaagtgatc agccagcagc tgtgcgtcat cttcacacac
     3181 tgctacgggc cctaccccat ccccaagctc acagaaatca aacggaaaca gacctcgcgc
     3241 ttggatcctc attttcttaa caataaagaa atgtctgatg ttacatttct ggtagaagga
     3301 agaccatttt atgctcacaa agtgctgtta tttacagcct ctccaaggtt caaagcactc
     3361 ctctccagca agccgacaaa tgatggcacc tgcatagaga ttggttatgt gaaatactcc
     3421 atctttcagc tggttatgca gtatctctac tatggtggcc cagagtcact gctcattaaa
     3481 aacaatgaga tcatggagct tctgtctgct gctaagtttt tccagctgga ggctttgcag
     3541 cgacactgtg agattatctg tgcgaaaagc atcaataccg acaactgtgt ggatatttac
     3601 aaccatgcca agtttcttgg agtcacagag ctctcagcat attgcgaagg ctactttctc
     3661 aaaaacatga tggtcctcat tgaaaacgaa gcattcaagc agctcctgta tgacaaaaat
     3721 ggtgaaggga ccggccagga tgtgctccag gacttacaga ggacgttggc catcagaatt
     3781 cagtccatcc acttgtcgtc ttccaaaggt tccgtggtat gaaacgccta gtgcagggaa
     3841 tgcttcccgg gaactttcca gttctcctgc cgcattggct ttacacaaac acagacaaat
     3901 tccacctggc acctgttttt ggctgggcca aggagctgcc tctactgctc ccacgtgttc
     3961 ctgttgaaaa acaaaggact ttccactggt ctgcagatca gatcagctgg gtccagagtt
     4021 taatgggcaa ctggacaacc aagttaaccc caattgaaag cacccctagg accattgaac
     4081 acccactgcc ggggaccact gtccagtgaa tggattgagg ccttttaaag gtcactcagg
     4141 ttccaggttg acagttggag gacttcaccg taccaaccct gaagagattg tattacacat
     4201 taaggacctt ggtagctgtg cttcagcaaa cgtcaaccat ggtagcaaat tggtgaggct
     4261 gtgaccaata atgaggaaat aatctggcaa atttttaggg gtgggaactt ttttaaatgt
     4321 tcatttaaaa aaaaacaaaa acagggcagt cttgtagttt aaaatatatt tctaaaagct
     4381 taacagttcg ttttcaacta aattgtgttt agggatctgt gtttgagatt tttctttatt
     4441 tctttttttt ttttaaatag taagtcacag gtccacactg tgtaaacatg catctgataa
     4501 gatactgctg atattctaaa caagttgaaa taatcttgcc ttagtgatca tgattacaca
     4561 aaagaggtgc actgccaata agtatctcta attcaatagt tgaaagcaac ctgcatgcta
     4621 atcgtggttt cggggtgaga ataaaacacc cccacataac atgcatttgc atgggcccga
     4681 acctgtgaaa tgttacgttt gtgcttcatt tttgccaagg taaaaatgtt ccatcatttc
     4741 tagctaaaac tccatttggt gaaaccaaca tatccatttc ttttcctagt tacggatgat
     4801 ttggggatgc ttttgcagaa atgtgttcat agatgatgct gaatggggga ggggggcagc
     4861 acgtcagaga atttactatt aatcccagag ttttctctgt attctcagaa gatgttaata
     4921 gtttgttact agccagagag tatgactatg ttagattatt tttaaagatg aaacatgtat
     4981 gataggatgg attctttctg tattctgaga gtgtacagta caggattatt ataatgaaag
     5041 tttatatcaa cagggtttcg ttggctctgc catatattat aagcaaaaga gattggtaaa
     5101 gtgccacagt attccagata acttttcagt tgcggccttt cttctcgttc tttaatttga
     5161 aacctagata catgcagtaa aaactaggag aatgactttt acccttgggg acagccaagt
     5221 tttgttgata aacctatttc ctagcatgcc ttcaggaagt tgtgccagac cctagattgt
     5281 gaaggaccca ctgttcttct gttgtacgag ctccctgaac cattgttcag aggaccaatg
     5341 tcacatcgct tcatgggcat ggcccatgga gcatctgggt gatatctgtc tacagtattg
     5401 gctcttctgc gaggctgata cacaaggcct ctcttccaca tgatcatttg caaacctccc
     5461 ccagccccta ccatccaatg tggaaggaaa acaagaactg cctgaagaag agtccaagct
     5521 acagatacac agcgtgtgca ttgcggctgt caccttcctc ctcccacttc tgtatcctca
     5581 gagatgctgc gtggatgttt ccttaacctc agctgacttc cctgtgaatg tctaatgcta
     5641 gttcagggcc tccaggcatt gatttgtaca gtggtaactc ccaatgaggc ttctgttatc
     5701 atttggtgtg ctttctctgt cattaaaaga aatgattttc ccaggc
//
