LOCUS       NM_018095               2357 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens kelch repeat and BTB domain containing 4 (KBTBD4),
            transcript variant 1, mRNA.
ACCESSION   NM_018095
VERSION     NM_018095.6
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 2357)
  AUTHORS   Chen,Z., Ioris,R.M., Richardson,S., Van Ess,A.N., Vendrell,I.,
            Kessler,B.M., Buffa,F.M., Busino,L., Clifford,S.C., Bullock,A.N.
            and D'Angiolella,V.
  TITLE     Disease-associated KBTBD4 mutations in medulloblastoma elicit
            neomorphic ubiquitylation activity to promote CoREST degradation
  JOURNAL   Cell Death Differ 29 (10), 1955-1969 (2022)
   PUBMED   35379950
  REMARK    GeneRIF: Disease-associated KBTBD4 mutations in medulloblastoma
            elicit neomorphic ubiquitylation activity to promote CoREST
            degradation.
REFERENCE   2  (bases 1 to 2357)
  AUTHORS   Uchida,E., Sasaki,A., Shirahata,M., Suzuki,T., Adachi,J.I.,
            Mishima,K., Yasuda,M., Fujimaki,T., Ichimura,K. and Nishikawa,R.
  TITLE     Role of proliferative marker index and KBTBD4 mutation in the
            pathological diagnosis of pineal parenchymal tumors
  JOURNAL   Brain Tumor Pathol 39 (3), 130-138 (2022)
   PUBMED   35000018
  REMARK    GeneRIF: Role of proliferative marker index and KBTBD4 mutation in
            the pathological diagnosis of pineal parenchymal tumors.
REFERENCE   3  (bases 1 to 2357)
  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   4  (bases 1 to 2357)
  AUTHORS   Leal,L.F., Cavagna,R.O., Campanella,N.C., Mancano,B., Almeida,G.C.,
            Matsushita,M., Almeida Junior,C.R., Saggioro,F., Stavale,J.N.,
            Malheiros,S.M.F., Lima,M., Hajj,G.N.M., Neder,L. and Reis,R.M.
  TITLE     Lack of KBTBD4 Mutations in Molecularly Classified Brazilian
            Medulloblastomas
  JOURNAL   J Neuropathol Exp Neurol 78 (9), 788-790 (2019)
   PUBMED   31403685
  REMARK    GeneRIF: Our findings suggest that KBTBD4 mutations are uncommon in
            Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104942.5 and KF459542.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018095.5.
            
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence compared to variant 4. The resulting isoform (a)
            has a shorter and distinct N-terminus compared to isoform c.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.944498.1,
                                           SRR1803612.174017.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000430070.7/ ENSP00000415106.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                AC104942.5         152971-153008
            39-101              KF459542.1         326-388
            102-656             AC104942.5         153976-154530
            657-763             AC104942.5         156242-156348
            764-2357            AC104942.5         158151-159744
FEATURES             Location/Qualifiers
     source          1..2357
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..2357
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /note="kelch repeat and BTB domain containing 4"
                     /db_xref="GeneID:55709"
                     /db_xref="HGNC:HGNC:23761"
                     /db_xref="MIM:617645"
     exon            1..38
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1624
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /note="isoform a is encoded by transcript variant 1; BTB
                     and kelch domain containing 4; kelch repeat and BTB
                     domain-containing protein 4; BTB and kelch
                     domain-containing protein 4; kelch repeat and BTB (POZ)
                     domain containing 4"
                     /codon_start=1
                     /product="kelch repeat and BTB domain-containing protein 4
                     isoform a"
                     /protein_id="NP_060565.4"
                     /db_xref="CCDS:CCDS44594.1"
                     /db_xref="GeneID:55709"
                     /db_xref="HGNC:HGNC:23761"
                     /db_xref="MIM:617645"
                     /translation="MKGGNADSWQREKLASMESPEEPGASMDENYFVNYTFKDRSHSG
                     RVAQGIMKLCLEEELFADVTISVEGREFQLHRLVLSAQSCFFRSMFTSNLKEAHNRVI
                     VLQDVSESVFQLLVDYIYHGTVKLRAEELQEIYEVSDMYQLTSLFEECSRFLARTVQV
                     GNCLQVMWLADRHSDPELYTAAKHCAKTHLAQLQNTEEFLHLPHRLLTDIISDGVPCS
                     QNPTEAIEAWINFNKEEREAFAESLRTSLKEIGENVHIYLIGKESSRTHSLAVSLHCA
                     EDDSISVSGQNSLCHQITAACKHGGDLYVVGGSIPRRMWKCNNATVDWEWCAPLPRDR
                     LQHTLVSVPGKDAIYSLGGKTLQDTLSNAVIYYRVGDNVWTETTQLEVAVSGAAGANL
                     NGIIYLLGGEENDLDFFTKPSRLIQCFDTETDKCHVKPYVLPFAGRMHAAVHKDLVFI
                     VAEGDSLVCYNPLLDSFTRLCLPEAWSSAPSLWKIASCNGSIYVFRDRYKKGDANTYK
                     LDPATSAVTVTRGIKVLLTNLQFVLA"
     exon            39..656
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /inference="alignment:Splign:2.1.0"
     exon            657..763
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /inference="alignment:Splign:2.1.0"
     exon            764..2357
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2338..2343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /note="hexamer: AATAAA"
     polyA_site      2357
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /note="major polyA site"
ORIGIN      
        1 ggaggttccg ggctccggga tgaaaggagg gaacgcagac agctggcaga gagagaagtt
       61 ggctagcatg gaatcaccag aggagcctgg agcatccatg gatgagaact actttgtgaa
      121 ctacactttc aaagatcggt cacattcagg ccgtgtggct caaggcatca tgaaactgtg
      181 tctagaggag gagctctttg ctgatgtcac catttcggtg gaaggccggg agtttcagct
      241 ccatcggctg gtcctctcag ctcagagctg cttcttccga tccatgttca cttccaacct
      301 gaaggaggcc cacaaccggg tgattgtgct gcaggatgtc agcgagtctg ttttccagct
      361 cctggttgat tatatctacc atgggactgt gaaacttcga gctgaggagt tgcaggaaat
      421 ttatgaggtg tcagacatgt atcagctgac atctctcttt gaggaatgct ctcggttttt
      481 ggcccgcaca gtgcaagtgg gaaactgcct tcaggtgatg tggctggcag atcggcacag
      541 tgatcctgag ctctatacgg ctgccaagca ctgtgccaag acccacctgg cccagctgca
      601 gaatacagag gaatttctcc acttgcccca ccgcttactc acagatatca tctcggatgg
      661 agttccgtgt tctcagaacc caacagaggc aatagaagcc tggatcaact ttaataaaga
      721 ggaaagagag gcttttgcag agtcactcag gacaagcttg aaggaaattg gggagaatgt
      781 gcacatttac ctgattggga aagagtcatc tcgtacccac tcgttggctg tgtccttgca
      841 ctgtgcagaa gatgactcca tcagtgtaag tggccaaaac agtttgtgcc accagatcac
      901 tgcggcctgc aagcatggtg gagacttgta tgtggtggga gggtccatcc cacggcgcat
      961 gtggaagtgc aacaatgcca ccgttgactg ggagtggtgt gctcctttgc ctcgggaccg
     1021 gctccagcac accctggtgt ctgtgcccgg gaaagatgcc atatattcac tgggtggcaa
     1081 gacactgcaa gataccctct ccaacgcagt catttattat cgcgtaggtg ataatgtgtg
     1141 gacagagaca actcagctag aggtggctgt gtcaggggct gctggtgcca acctcaacgg
     1201 gatcatctac ttactagggg gggaggagaa tgatctggac ttctttacca aaccttcccg
     1261 actcatccag tgctttgaca cagagacaga caaatgccat gtgaagccct atgtgctgcc
     1321 ctttgcaggc cgcatgcacg cagctgtgca taaagatctg gtgttcatcg tggctgaagg
     1381 ggactccctg gtgtgctaca atcccttgct agacagcttc acccggcttt gccttcctga
     1441 ggcctggagc tctgccccat ccctctggaa gattgccagc tgtaacggga gcatctatgt
     1501 cttccgggac cgatataaaa agggggatgc caacacctac aagcttgacc ctgccacttc
     1561 agccgtaact gtcacaagag gtattaaggt gctgcttacc aatttgcagt ttgtgttggc
     1621 ctaaggctgt ggggagggga ggagaactgc tcactccttt tccctcccca tacaaactca
     1681 aagtcccctg ggccccaatt cagagttatg ttttttttgg cacatactag aaaggcagtg
     1741 cctcagccct tccctgaatc catggaggtg ttctgtttgg ggctttttag actgctgctg
     1801 ctcagctggt tgcttgaact gacagtaggc cagcctgttc tctgccattc cctagtcatc
     1861 ctgtgcctca ccacagcttg cttagagcaa gccttttctc agaccttagg cacagcctct
     1921 cctctttacc tgatcaatgt taaatgtaag cacccctgat cccaggacat aaggaaagat
     1981 gcccaattgt acttttgttc tatagcctgt gaaatggcta gttgatcatt tttccacaaa
     2041 gaattaggtg ttaagagttt tccttcaggc tttacttagg agaatggact aagctgaagg
     2101 tgtacttcac cagcaagagt caactctaga attcaggatg ttccttctat tgttttctta
     2161 tccatctgtc aggaaatgta actttggttt tatttttggc ttattccaag gggtaagcca
     2221 gaaaatagaa atgattattt ctgattaata gcagaaactt tttcaatctc aaatatataa
     2281 ggtgtctgct cttttaaaag ctctaagcta agtcaagagc taggaactgt tgatacaaat
     2341 aaaagttttt gaaggga
//
