LOCUS       NM_198439               3840 bp    mRNA    linear   PRI 10-FEB-2024
DEFINITION  Homo sapiens kelch repeat and BTB domain containing 3 (KBTBD3),
            transcript variant 2, mRNA.
ACCESSION   NM_198439
VERSION     NM_198439.3
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 3840)
  AUTHORS   Zouboulis,C.C., Nogueira da Costa,A., Fimmel,S. and Zouboulis,K.C.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   2  (bases 1 to 3840)
  AUTHORS   Yilmaz,S., Boffito,M., Collot-Teixeira,S., De Lorenzo,F.,
            Waters,L., Fletcher,C., Back,D., Pozniak,A., Gazzard,B. and
            McGregor,J.L.
  TITLE     Investigation of low-dose ritonavir on human peripheral blood
            mononuclear cells using gene expression whole genome microarrays
  JOURNAL   Genomics 96 (1), 57-65 (2010)
   PUBMED   20353815
  REMARK    GeneRIF: Ritonavir (at 100 mg once daily and 100 mg twice daily
            significantly down-regulated Kelch domain containing 3 in 20
            healthy individuals.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK289915.1 and AP001001.5.
            
            On Nov 23, 2018 this sequence version replaced NM_198439.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The extent of this RefSeq
            transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.134552.1,
                                           SRR1660805.234367.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467147 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000531837.2/ ENSP00000432163.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1200              AK289915.1         2-1201
            1201-3840           AP001001.5         11673-14312         c
FEATURES             Location/Qualifiers
     source          1..3840
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..3840
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /note="kelch repeat and BTB domain containing 3"
                     /db_xref="GeneID:143879"
                     /db_xref="HGNC:HGNC:22934"
     exon            1..36
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /inference="alignment:Splign:2.1.0"
     exon            37..237
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /inference="alignment:Splign:2.1.0"
     exon            238..482
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             250..2088
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /note="isoform 1 is encoded by transcript variant 2; BTB
                     and kelch domain containing 3; kelch repeat and BTB
                     domain-containing protein 3; BTB and kelch
                     domain-containing protein 3; kelch repeat and BTB (POZ)
                     domain containing 3; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="kelch repeat and BTB domain-containing protein 3
                     isoform 1"
                     /protein_id="NP_940841.1"
                     /db_xref="CCDS:CCDS8334.1"
                     /db_xref="GeneID:143879"
                     /db_xref="HGNC:HGNC:22934"
                     /translation="MELAMDNSYAFNQRSTCNGIPSEKKNNFLVSEDHGQKILSVLQN
                     FREQNVFYDFKIIMKDEIIPCHRCVLAACSDFFRAMFEVNMKERDDGSVTITNLSSKA
                     VKAFLDYAYTGKTKITDDNVEMFFQLSSFLQVSFLSKACSDFLIKSINLVNCLQLLSI
                     SDSYGSTSLFDHALHFVQHHFSLLFKSSDFLEMNFGVLQKCLESDELNVPEEEMVLKV
                     VLSWTKHNLESRQKYLPHLIEKVRLHQLSEETLQDCLFNEESLLKSTNCFDIIMDAIK
                     CVQGSGGLFPDARPSTTEKYIFIHKTEENGENQYTFCYNIKSDSWKILPQSHLIDLPG
                     SSLSSYGEKIFLTGGCKGKCCRTVRLHIAESYHDATDQTWCYCPVKNDFFLVSTMKTP
                     RTMHTSVMALDRLFVIGGKTRGSRDIKSLLDVESYNPLSKEWISVSPLPRGIYYPEAS
                     TCQNVIYVLGSEVEITDAFNPSLDCFFKYNATTDQWSELVAEFGQFFHATLIKAVPVN
                     CTLYICDLSTYKVYSFCPDTCVWKGEGSFECAGFNAGAIGIEDKIYILGGDYAPDEIT
                     DEVQVYHSNRSEWEEVSPMPRALTEFYCQVIQFNKYRDPWFSNLCA"
     exon            483..3840
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2459..2464
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /note="hexamer: AATAAA"
     polyA_site      2485
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /note="major polyA site"
     regulatory      3817..3822
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /note="hexamer: AATAAA"
     polyA_site      3840
                     /gene="KBTBD3"
                     /gene_synonym="BKLHD3"
                     /note="major polyA site"
ORIGIN      
        1 agactggggt ggagacttcg gagactgcag ttgcagttgt tccgtgtagg ctgttgttga
       61 ctctcgtatg aaagcccacg cgatccaagt gccctgcagg ttttggtcca gggaaaagtt
      121 ggtctctgca gatgactgta aatgactacc tggaggtcga ttaaagtgcg gtactgcggg
      181 attcagccga tttccttctt cctctgactg cccggaaata tcagccaaag gccagcgttc
      241 taaggacata tggaattggc tatggataat tcatatgctt tcaatcaacg aagcacatgt
      301 aatggaattc catctgagaa gaaaaacaac ttccttgtat cagaagatca tggacaaaaa
      361 atcttaagtg tactacagaa ttttagagaa caaaatgtct tttatgattt caaaataatt
      421 atgaaagatg aaataatccc gtgtcatcgt tgtgtgttag cagcatgcag tgactttttc
      481 agggctatgt ttgaagtaaa catgaaagaa agagatgatg gaagtgttac cattactaat
      541 ttgtcctcca aggcagtaaa agcatttctc gattatgcct atactggaaa aacaaaaata
      601 acagatgata atgtggaaat gttcttccag ttgtcatcat ttcttcaagt ttccttccta
      661 tccaaagctt gcagtgactt tttaataaaa agtattaatc ttgtcaattg tttacagtta
      721 ttatctatat cagatagcta tggctccacc agtttgtttg atcatgcatt acactttgta
      781 caacatcact tttctttatt atttaaatcc agtgatttct tagagatgaa ttttggagta
      841 ctacagaaat gtctggaatc agatgaatta aatgttcctg aagaagaaat ggtactgaaa
      901 gttgtcctta gttggactaa acataactta gaatcaaggc aaaagtatct gcctcatttg
      961 attgaaaaag tgagattaca tcagttatct gaggagacac ttcaggactg tctgttcaat
     1021 gaagagagtt tactcaaaag cacaaactgt tttgacataa tcatggatgc aattaagtgt
     1081 gtgcaaggtt ctggtggact cttccctgat gctcgaccat ccacaactga gaaatacata
     1141 ttcattcaca aaactgagga aaatggagaa aatcaatata cattttgcta taacattaaa
     1201 tctgattcat ggaaaatact gccgcaatca cacctgattg atttgccagg atctagtctt
     1261 tcgagttacg gagagaaaat attcttgaca ggtggttgca aagggaaatg ttgtcgaacg
     1321 gttcgactgc atattgccga gtcatatcat gatgccactg atcaaacctg gtgctactgt
     1381 ccagtgaaaa atgatttctt cttggtatca actatgaaaa caccaagaac catgcataca
     1441 tcagttatgg ctctcgatag attatttgtc ataggtggaa aaactagagg atcccgggac
     1501 attaaaagtc tcttagatgt tgaatcttac aatcctcttt ccaaagaatg gatatctgtt
     1561 agcccattac ccagaggcat atactatcca gaagcaagca catgccaaaa tgtaatttat
     1621 gttcttggat cagaggtaga gattacagat gcttttaacc catcacttga ttgctttttt
     1681 aaatacaatg ctacaactga tcagtggtct gaactagtag cagagtttgg gcaatttttt
     1741 catgcaacat taattaaagc tgtaccagta aactgtacac tgtatatatg tgacctttcc
     1801 acctataagg tttatagttt ttgtccagac acttgtgttt ggaaaggcga aggatctttt
     1861 gagtgtgcag gctttaatgc aggtgcaatt ggaattgaag ataaaattta tatattaggt
     1921 ggtgattatg caccagatga aatcacagat gaagtgcagg tctaccacag caacaggtct
     1981 gaatgggaag aagtttcacc aatgcctaga gccttaacag aattttactg ccaggtgatt
     2041 cagtttaata aatacagaga cccatggttt tctaatctat gtgcttgaac attctaaaac
     2101 gagtccagtt ctagtaacct aaagtaaatt tgttaaccaa aatgataggt aaaaagatct
     2161 atacatctta atgaaataaa acattcctgc ttttagttat tatgtatgta caccatatat
     2221 gaataaacag tttccaaaaa cttaaaatac aaaatatatt ttaccaaaaa ttatactgaa
     2281 tataatttaa ccttggggaa tccagaatac ttagtatttt cacatgaaac tacaaatcat
     2341 agactctgac actttgattt ttaaagtact ctgtccataa aagatttgta ctgtttagat
     2401 gggagaaacc tctagagaga gtaaaaatga attacactgt atcttatatg aagtaaaaaa
     2461 taaatcagag gtgagaatat tgttactgcg ggtatgagtt gttgaattcc tatcatttgt
     2521 gatgattggt taacttcttt taggtaccct ttttaccctt ttttagttca gaaataattc
     2581 tcccagcttt ataaatagta cactaaacat agtttaactt tttttaatga ctcatttttt
     2641 cattaaaagc ataatgtacc atgttataat gccattagca gttacttaaa tgctttaaaa
     2701 attgctgatt agttttcaat gtcagttggt ttcaatttct agctctctct ctctctctcc
     2761 tccccccctc tcattttctg gttcaatctt agtaaattaa cattctggat ttaattagta
     2821 gttctaagtt acacctggcc tgagtttatg ttaacatgta accctcaatt ggaaattttt
     2881 ggattctggg atggcagtac taaaatactt tttatgtatc attgctaggt tccagcctaa
     2941 ttaaggacat agaaaattga cctctaatta agtggatcat tattatggca tttcttaagc
     3001 tttatccaaa tttcagctac ataaaacatt tcaggattta aattagtacc atatcaattt
     3061 tctgtgatga tgtataccaa ctataaagca ctatgttggt ttactacttc agtaaattat
     3121 tcttagtgaa ttattttcta aattaaaaaa aatgacttgg cttttggtat tgataatagt
     3181 attcacaacc tgcatctgtt aagatgtttg atctttaacc cacacaatgt aagggtactg
     3241 ttgtcattgt tctcaggtag gtgattctgc cttccaagag tatatgtttc tttaatcagt
     3301 ttaaaagata aaggcatttt gggttttaag acccctgctt tacatctcag gtaatgtgta
     3361 gattgtactt ctctggaacc aaatgtagtt ttctacactc agttgtaaat gttaatcttt
     3421 ctcaaatgtg cacattcttt aaaagtgtgt tcctaagtag aaatacacct aaatgaagat
     3481 tctcttattt tatcatataa atttatgcaa cgataagttc caaatgtatt tttcaaaaca
     3541 gaatggaata tcagagtaca ttttcatgaa gtttaaaaat caaggactgt tcctgattag
     3601 atgacgtatt tattggtggc cttcttatct aagcacatga gtagttggct ctgaactttg
     3661 tgtatttgaa aaaggaaaat tcagtggagg cttttgtttg tgtgtgtgtg gctttgaaaa
     3721 caaattattt gagaaagacc ataacacagt gagtagccta tatgtgcatt tactgaattg
     3781 ttaatttaag gatatatatt aatagagtat gtttaaaata aatattgttt tcatcactga
//
