LOCUS       NM_015483               3608 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens kelch repeat and BTB domain containing 2 (KBTBD2),
            mRNA.
ACCESSION   NM_015483 XM_291224 XM_374418
VERSION     NM_015483.3
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 3608)
  AUTHORS   Hu,Y., Zhang,Z., Mao,Q., Zhang,X., Hao,A., Xun,Y., Wang,Y., Han,L.,
            Zhan,W., Liu,Q., Yin,Y., Peng,C., Moresco,E.M.Y., Chen,Z.,
            Beutler,B. and Sun,L.
  TITLE     Dynamic molecular architecture and substrate recruitment of
            cullin3-RING E3 ligase CRL3KBTBD2
  JOURNAL   Nat Struct Mol Biol 31 (2), 336-350 (2024)
   PUBMED   38332366
  REMARK    GeneRIF: Dynamic molecular architecture and substrate recruitment
            of cullin3-RING E3 ligase CRL3[KBTBD2].
REFERENCE   2  (bases 1 to 3608)
  AUTHORS   Zhang,Z., Turer,E., Li,X., Zhan,X., Choi,M., Tang,M., Press,A.,
            Smith,S.R., Divoux,A., Moresco,E.M. and Beutler,B.
  TITLE     Insulin resistance and diabetes caused by genetic or diet-induced
            KBTBD2 deficiency in mice
  JOURNAL   Proc Natl Acad Sci U S A 113 (42), E6418-E6426 (2016)
   PUBMED   27708159
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018648.5 and BC037887.2.
            
            On Nov 22, 2018 this sequence version replaced NM_015483.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC037887.2, SRR1660805.199725.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405, SAMN03267754
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304056.9/ ENSP00000302586.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-185               AC018648.5         96742-96926         c
            186-1058            BC037887.2         186-1058
            1059-3608           AC018648.5         73338-75887         c
FEATURES             Location/Qualifiers
     source          1..3608
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..3608
                     /gene="KBTBD2"
                     /gene_synonym="BKLHD1"
                     /note="kelch repeat and BTB domain containing 2"
                     /db_xref="GeneID:25948"
                     /db_xref="HGNC:HGNC:21751"
                     /db_xref="MIM:619393"
     exon            1..225
                     /gene="KBTBD2"
                     /gene_synonym="BKLHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            226..733
                     /gene="KBTBD2"
                     /gene_synonym="BKLHD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             564..2435
                     /gene="KBTBD2"
                     /gene_synonym="BKLHD1"
                     /note="BTB and kelch domain containing 1; BTB and kelch
                     domain-containing protein 1; kelch repeat and BTB (POZ)
                     domain containing 2"
                     /codon_start=1
                     /product="kelch repeat and BTB domain-containing protein
                     2"
                     /protein_id="NP_056298.2"
                     /db_xref="CCDS:CCDS34614.1"
                     /db_xref="GeneID:25948"
                     /db_xref="HGNC:HGNC:21751"
                     /db_xref="MIM:619393"
                     /translation="MSTQDERQINTEYAVSLLEQLKLFYEQQLFTDIVLIVEGTEFPC
                     HKMVLATCSSYFRAMFMSGLSESKQTHVHLRNVDAATLQIIITYAYTGNLAMNDSTVE
                     QLYETACFLQVEDVLQRCREYLIKKINAENCVRLLSFADLFSCEELKQSAKRMVEHKF
                     TAVYHQDAFMQLSHDLLIDILSSDNLNVEKEETVREAAMLWLEYNTESRSQYLSSVLS
                     QIRIDALSEVTQRAWFQGLPPNDKSVVVQGLYKSMPKFFKPRLGMTKEEMMIFIEASS
                     ENPCSLYSSVCYSPQAEKVYKLCSPPADLHKVGTVVTPDNDIYIAGGQVPLKNTKTNH
                     SKTSKLQTAFRTVNCFYWFDAQQNTWFPKTPMLFVRIKPSLVCCEGYIYAIGGDSVGG
                     ELNRRTVERYDTEKDEWTMVSPLPCAWQWSAAVVVHDCIYVMTLNLMYCYFPRSDSWV
                     EMAMRQTSRSFASAAAFGDKIFYIGGLHIATNSGIRLPSGTVDGSSVTVEIYDVNKNE
                     WKMAANIPAKRYSDPCVRAVVISNSLCVFMRETHLNERAKYVTYQYDLELDRWSLRQH
                     ISERVLWDLGRDFRCTVGKLYPSCLEESPWKPPTYLFSTDGTEEFELDGEMVALPPV"
     exon            734..899
                     /gene="KBTBD2"
                     /gene_synonym="BKLHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            900..3608
                     /gene="KBTBD2"
                     /gene_synonym="BKLHD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3589..3594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KBTBD2"
                     /gene_synonym="BKLHD1"
                     /note="hexamer: AATAAA"
     polyA_site      3608
                     /gene="KBTBD2"
                     /gene_synonym="BKLHD1"
                     /note="major polyA site"
ORIGIN      
        1 agaggacgct gctttccgcg ctggacggac caagcgaggg agggtgcgag gggaaaccgg
       61 aaggaagagg cggcggcgcc agccttcctc ggccggaggc ggaggcgaga ccccaggcga
      121 ggccgcggcg ggagggccac gcccccgccg ccgcgccgga ggggcccagt gtggacgggg
      181 ccaccggctg gagcggatcc cacacctccg gaccgaggga cgcggttact ccacaggatc
      241 cgctgaacat aggatgttgc cacaaaatct acctcgtgta tttttctctt tcactcatga
      301 gctgcacaat tgcagatttg agcacaatgt ctgcagactg tgttgaaaaa ctctgaagaa
      361 cctaattaac acaggatgac ctaggagtga ttctaagtct gtgtaacaag atattactca
      421 ttagtgaatg tgtcagtctt ggtactgaat gctgcagata acagcaagta ggttctcctt
      481 tatttctgaa gtattcactt gaccttccat cagtaagacg gacttttcta atctgttcct
      541 ggagatatta atggaataca gtcatgtcca ctcaagacga gaggcagatc aatactgaat
      601 atgctgtgtc attgttggaa cagttgaaac tgttttatga acagcagttg tttactgaca
      661 tagtgttaat tgttgagggc actgaattcc cttgtcataa gatggttctt gcaacatgta
      721 gctcttattt cagggccatg tttatgagtg gactaagtga aagcaaacaa acccatgtac
      781 acctgaggaa tgtcgatgct gccaccttac agataataat aacttatgca tacacgggta
      841 acttggcaat gaatgacagc actgtagaac agctttatga aacagcttgc ttcctacagg
      901 tagaagatgt gttacaacgt tgtcgagaat atttaattaa aaaaataaat gcagagaatt
      961 gtgtacgatt gttgagtttt gctgatctct tcagttgtga ggaattaaaa cagagtgcta
     1021 aaagaatggt ggagcacaag ttcactgctg tgtatcatca ggacgcgttc atgcagctgt
     1081 cacatgacct actgatagat attctcagta gtgacaattt aaatgtagaa aaggaagaaa
     1141 ccgttcgaga agctgctatg ctgtggctag agtataacac agaatcacga tcccagtatt
     1201 tgtcttctgt tcttagccaa atcagaattg atgcactttc agaagtaaca cagagagctt
     1261 ggtttcaagg tctgccaccc aatgataagt cagtggtggt tcaaggtctg tataagtcca
     1321 tgcccaagtt tttcaaacca agacttggga tgactaaaga ggaaatgatg attttcattg
     1381 aagcatcttc agaaaatcct tgtagtcttt actcttctgt ctgttacagc ccccaagcag
     1441 aaaaagttta caagttatgt agcccaccag ctgatttgca taaggttggg accgttgtaa
     1501 ctcctgataa tgatatctac atagcagggg gtcaagttcc tctgaaaaac acaaaaacaa
     1561 atcacagtaa aacaagcaaa cttcagactg ccttcagaac tgtgaattgc ttttattggt
     1621 ttgatgcaca gcaaaatacc tggtttccaa agaccccaat gctttttgtc cgcataaagc
     1681 catctttggt ttgctgtgaa ggctatatct atgcaattgg aggagatagc gtaggtggag
     1741 aacttaatcg gaggaccgta gaaagatacg acactgagaa agatgagtgg acgatggtaa
     1801 gccctttacc ttgtgcttgg caatggagtg cagcagttgt ggttcatgac tgcatttatg
     1861 tgatgacact gaacctcatg tactgttatt ttccaaggtc tgactcatgg gtagaaatgg
     1921 ccatgagaca gactagtagg tcctttgctt cagctgcagc ttttggtgat aaaattttct
     1981 atattggagg gttgcatatt gctaccaatt ccggcataag actcccctct ggcactgtag
     2041 atgggtcttc agtaactgtg gaaatttatg atgtgaataa aaatgagtgg aaaatggcag
     2101 ccaacatccc tgctaagagg tactctgacc cctgtgttag agctgttgtg atctcaaatt
     2161 ctctatgtgt gtttatgcga gaaacccact taaatgagcg agctaaatac gtcacctacc
     2221 aatatgacct ggaacttgac cggtggtctc tgcggcagca tatatctgaa cgtgtactgt
     2281 gggacttggg gagagatttt cgatgcactg tggggaaact ctatccatcc tgccttgaag
     2341 agtctccatg gaaaccacca acttatcttt tttcaacgga tgggacagaa gagtttgaac
     2401 tggatggaga aatggttgca ctaccacctg tatagtgggg aagttcaggg agtgcacgcc
     2461 tgagttatgt gctttgtcat tttctttgct aaacaaaaga ggctatgaaa gaactaaata
     2521 tgagtacata aaattctatc tttgataaat tttattttta tgccctactt aatatttgca
     2581 tcagtataat atatatcagt gagtcttaca gaaagatatg cttccataat atgaaataga
     2641 ttattcaata attgagaaac tttatgtgta atcatgagag tataagaatc tggattatct
     2701 aacattgtta gccctgtgta tgtacagttc aaaaagttca tttataaaag tagtttcctg
     2761 ttcctagtgt gatgtatcac aaattgtgct gaggttattt tagtatgtgt gtttcattcc
     2821 cgtgcttctg ttctgaagtc ctggaataca gttttcagtg taattaattc aactgcactt
     2881 aacactaatg tccgtgttgg tatagaaatg tctaaatcct atactctagt tgaggaagat
     2941 cttccataat tttatggtat tacacaggga aagctatgac tgcaggatca gtctaactat
     3001 actattaggt gcatgtattc tcttttcact aacttatact tgtctatcta gaatacaggt
     3061 cttccagtca gctggtcatt taccaggtgt ggacttaagt tgctaggctt gcagtaagaa
     3121 ttgccagcca ctcattgtgc gggtctgcgt ggagctttaa tcagaaaaag cctccacttt
     3181 ctgtattatg ttaacattgg ctcatgcata taactatctg ctgctgatgt agttctccat
     3241 cttcaagatt tagagtgggt taaccaggtc attacatctt aatttaataa caagcattac
     3301 tgtagagtga ttgtgtatag atctgttagc tgtcagggtg tgtttttttt aacctgttgt
     3361 gtgcgtgtgg gggttaggat tagtaaggtg aactgttcag gaattctctg cactagctgt
     3421 gcagaagagc agataactag cgctgctctg gcattaatcc caggaaccac tagcagtagt
     3481 ggggcgccgc caatctaaca tgagcacagg tgcttcatga caaacattac tagcatgttc
     3541 aactgcacca tgttctggca ctgtattttg aatgacatta atttattaaa taaattgtat
     3601 atattcaa
//
