LOCUS       NM_001101362            3203 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens kelch repeat and BTB domain containing 13 (KBTBD13),
            mRNA.
ACCESSION   NM_001101362 XM_372573 XM_940495
VERSION     NM_001101362.3
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 3203)
  AUTHORS   de Winter,J.M., Bouman,K., Strom,J., Methawasin,M.,
            Jongbloed,J.D.H., van der Roest,W., Wijngaarden,J.V.,
            Timmermans,J., Nijveldt,R., van den Heuvel,F., Kamsteeg,E.J., van
            Engelen,B.G., Galli,R., Bogaards,S.J.P., Boon,R.A., van der
            Pijl,R.J., Granzier,H., Koeleman,B., Amin,A.S., van der Velden,J.,
            van Tintelen,J.P., van den Berg,M.P., van Spaendonck-Zwarts,K.Y.,
            Voermans,N.C. and Ottenheijm,C.A.C.
  TITLE     KBTBD13 is a novel cardiomyopathy gene
  JOURNAL   Hum Mutat 43 (12), 1860-1865 (2022)
   PUBMED   36335629
  REMARK    GeneRIF: KBTBD13 is a novel cardiomyopathy gene.
REFERENCE   2  (bases 1 to 3203)
  AUTHORS   Bouman,K., Kusters,B., De Winter,J.M., Gillet,C., Van Kleef,E.S.B.,
            Eshuis,L., Brochier,G., Madelaine,A., Labasse,C., Boulogne,C., Van
            Engelen,B.G.M., Ottenheijm,C.A.C., Romero,N.B., Voermans,N.C. and
            Malfatti,E.
  TITLE     NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis
            in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear
            Clumps, and Granulo-Filamentous Protein Material
  JOURNAL   J Neuropathol Exp Neurol 80 (4), 366-376 (2021)
   PUBMED   33693846
  REMARK    GeneRIF: NEM6, KBTBD13-Related Congenital Myopathy: Myopathological
            Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores,
            Nuclear Clumps, and Granulo-Filamentous Protein Material.
REFERENCE   3  (bases 1 to 3203)
  AUTHORS   de Winter,J.M., Molenaar,J.P., Yuen,M., van der Pijl,R., Shen,S.,
            Conijn,S., van de Locht,M., Willigenburg,M., Bogaards,S.J., van
            Kleef,E.S., Lassche,S., Persson,M., Rassier,D.E., Sztal,T.E.,
            Ruparelia,A.A., Oorschot,V., Ramm,G., Hall,T.E., Xiong,Z.,
            Johnson,C.N., Li,F., Kiss,B., Lozano-Vidal,N., Boon,R.A.,
            Marabita,M., Nogara,L., Blaauw,B., Rodenburg,R.J., Kusters,B.,
            Doorduin,J., Beggs,A.H., Granzier,H., Campbell,K., Ma,W.,
            Irving,T., Malfatti,E., Romero,N.B., Bryson-Richardson,R.J., van
            Engelen,B.G., Voermans,N.C. and Ottenheijm,C.A.
  TITLE     KBTBD13 is an actin-binding protein that modulates muscle kinetics
  JOURNAL   J Clin Invest 130 (2), 754-767 (2020)
   PUBMED   31671076
  REMARK    GeneRIF: KBTBD13 is an actin-binding protein that modulates muscle
            kinetics.
            Erratum:[J Clin Invest. 2024 Feb 01;134(3):e179111. doi:
            10.1172/JCI179111.. PMID: 38299595]
REFERENCE   4  (bases 1 to 3203)
  AUTHORS   Sambuughin,N., Swietnicki,W., Techtmann,S., Matrosova,V.,
            Wallace,T., Goldfarb,L. and Maynard,E.
  TITLE     KBTBD13 interacts with Cullin 3 to form a functional ubiquitin
            ligase
  JOURNAL   Biochem Biophys Res Commun 421 (4), 743-749 (2012)
   PUBMED   22542517
  REMARK    GeneRIF: these results demonstrate that KBTBD13 is a putative
            substrate adaptor for Cul3-RL that functions as a muscle specific
            ubiquitin ligase, and thereby implicate the ubiquitin proteasome
            pathway in the pathogenesis of KBTBD13-associated NEM.
REFERENCE   5  (bases 1 to 3203)
  AUTHORS   Sambuughin,N., Yau,K.S., Olive,M., Duff,R.M., Bayarsaikhan,M.,
            Lu,S., Gonzalez-Mera,L., Sivadorai,P., Nowak,K.J., Ravenscroft,G.,
            Mastaglia,F.L., North,K.N., Ilkovski,B., Kremer,H., Lammens,M., van
            Engelen,B.G., Fabian,V., Lamont,P., Davis,M.R., Laing,N.G. and
            Goldfarb,L.G.
  TITLE     Dominant mutations in KBTBD13, a member of the BTB/Kelch family,
            cause nemaline myopathy with cores
  JOURNAL   Am J Hum Genet 87 (6), 842-847 (2010)
   PUBMED   21109227
  REMARK    GeneRIF: mutation screening led to the identification of a
            previously uncharacterized gene, KBTBD13, coding for a hypothetical
            protein and containing missense mutations that perfectly
            cosegregate with nemaline myopathy in the studied families
            Erratum:[Am J Hum Genet. 2011 Jan 7;88(1):122]
REFERENCE   6  (bases 1 to 3203)
  AUTHORS   Stogios,P.J., Downs,G.S., Jauhal,J.J., Nandra,S.K. and Prive,G.G.
  TITLE     Sequence and structural analysis of BTB domain proteins
  JOURNAL   Genome Biol 6 (10), R82 (2005)
   PUBMED   16207353
REFERENCE   7  (bases 1 to 3203)
  AUTHORS   Gommans,I.M., Davis,M., Saar,K., Lammens,M., Mastaglia,F.,
            Lamont,P., van Duijnhoven,G., ter Laak,H.J., Reis,A., Vogels,O.J.,
            Laing,N., van Engelen,B.G. and Kremer,H.
  TITLE     A locus on chromosome 15q for a dominantly inherited nemaline
            myopathy with core-like lesions
  JOURNAL   Brain 126 (Pt 7), 1545-1551 (2003)
   PUBMED   12805120
  REMARK    Erratum:[Brain. 2003 Sep;126(Pt 9):2115]
REFERENCE   8  (bases 1 to 3203)
  AUTHORS   North,K.N. and Ryan,M.M.
  TITLE     Nemaline Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301465
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013553.14.
            
            On Apr 2, 2020 this sequence version replaced NM_001101362.2.
            
            Summary: The gene belongs to a family of genes encoding proteins
            containing a BTB domain and several kelch repeats. The BTB domain
            functions as a protein-protein interaction module, which includes
            an ability to self-associate or to interact with non-BTB
            domain-containing proteins. The kelch motif typically occurs in
            groups of five to seven repeats, and has been found in proteins
            with diverse functions. Known functions of these family members
            include transcription regulation, ion channel tetramerization and
            gating, protein ubiquitination or degradation, and cytoskeleton
            regulation. The exact function of this family member has yet to be
            determined. [provided by RefSeq, Jun 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: DRR138525.575033.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000432196.5/ ENSP00000388723.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3203              AC013553.14        85881-89083
FEATURES             Location/Qualifiers
     source          1..3203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..3203
                     /gene="KBTBD13"
                     /gene_synonym="HCG1645727; NEM6"
                     /note="kelch repeat and BTB domain containing 13"
                     /db_xref="GeneID:390594"
                     /db_xref="HGNC:HGNC:37227"
                     /db_xref="MIM:613727"
     exon            1..3203
                     /gene="KBTBD13"
                     /gene_synonym="HCG1645727; NEM6"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..1447
                     /gene="KBTBD13"
                     /gene_synonym="HCG1645727; NEM6"
                     /note="nemaline myopathy type 6; kelch repeat and BTB
                     (POZ) domain containing 13"
                     /codon_start=1
                     /product="kelch repeat and BTB domain-containing protein
                     13"
                     /protein_id="NP_001094832.1"
                     /db_xref="CCDS:CCDS45281.1"
                     /db_xref="GeneID:390594"
                     /db_xref="HGNC:HGNC:37227"
                     /db_xref="MIM:613727"
                     /translation="MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETR
                     AAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQAVECAAFLQAPALARFLEHNLT
                     SDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAV
                     STHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVR
                     GASKEVVELGFCYDPDGGTWHEFPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVE
                     RYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVA
                     ELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGA
                     LFTAVVRGDTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGP
                     VTSTTAEL"
     regulatory      3175..3180
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KBTBD13"
                     /gene_synonym="HCG1645727; NEM6"
                     /note="hexamer: AATAAA"
     polyA_site      3203
                     /gene="KBTBD13"
                     /gene_synonym="HCG1645727; NEM6"
                     /note="major polyA site"
ORIGIN      
        1 aggggagccc cagagttggt ggctggctaa cccaaggccc cagcggcagc ctccgcccgg
       61 ccagctcgcc atggcacggg gtccacagac cctggtgcag gtgtgggtgg gcggccagct
      121 cttccaagcc gaccgcgccc tgctggtgga gcactgtggc ttcttccgag gcctcttccg
      181 ctccggcatg cgggagaccc gcgcagcaga ggtgcgcctg ggcgttctga gcgcgggagg
      241 tttccgcgcc acgctgcagg tgctgcgcgg cgaccggccg gcgctggcgg cggaggacga
      301 gctgctgcag gccgtggagt gcgccgcctt cctccaggcg ccggcgctgg ctcgctttct
      361 ggagcacaac ctcacgtcgg acaactgcgc attgctgtgc gacgcggccg ccgccttcgg
      421 cctgcgcgac gtgttccaca gtgccgcgct cttcatctgc gacggcgagc gcgagctggc
      481 ggccgaactg gcgctgcctg aggcccgcgc ctacgtggcg gccctgcggc ccagcagcta
      541 cgcggccgtg agcacgcaca cgcccgcgcc cggcttcctg gaggacgcct cgcgcacgct
      601 gtgttacctg gacgaggaag aggacgcgtg gcgcacgctg gctgcgctgc ccctggaggc
      661 cagcacgttg ctggccgggg tggccacgct gggcaacaag ctttacatcg tggggggcgt
      721 gcgcggcgcc agcaaggagg tggtagagct gggcttctgc tacgaccccg acggcggcac
      781 gtggcacgag ttccccagcc cgcaccagcc gcgctatgac acagcgctgg ccggcttcga
      841 cggccgcctc tacgccatcg gcggcgaatt ccagaggacg cccatcagct ccgtggagcg
      901 ctacgaccca gccgcgggct gctggagttt cgtggccgac ctgccgcagc cggccgccgg
      961 cgtgccctgc gcccaggctt gtggccgtct cttcgtgtgc ctgtggcggc cggccgacac
     1021 caccgccgtg gtggagtacg cagtgcggac cgacgcgtgg ctgccagtgg ccgagctgcg
     1081 gcgtccgcag agctatggcc actgcatggt ggcccaccgc gacagcctct atgtggtgcg
     1141 caacggacct tccgacgact tcctgcactg cgccatcgac tgtctcaacc tggccacggg
     1201 ccagtggacg gcgctgcccg gccagttcgt caacagcaag ggagcgctct tcacggccgt
     1261 ggtgcgcggt gacaccgtct atacggtcaa ccgcatgttc acgctgctct acgccatcga
     1321 gggcggcacc tggcggctgc tcagggagaa agccggcttc ccgcggcccg gctccttgca
     1381 gacctttctc ctaaggctgc ctcctggcgc tcctgggcct gtgacttcga caacggcaga
     1441 actgtgacct ctgggctggc tttaggaggg aggagacgcc gcgactcctc cctgagctat
     1501 ggctgagtgt gtgaggccgg ccttagaagt agctggcaac ttccctcttt ctactgagac
     1561 acccaggttt ggtgccttct ggtggtgtgg acatgttcaa gaagctcagg gagcagtgat
     1621 gatgccctca aattacttgg gctctgctga gagctggtgg gtcacaatgt cagtgaacag
     1681 ggtaggggga gttgggattt gaataatccg ggcttatatg taatgggcta gtgattgagc
     1741 atcgctggga gcgacttaaa tgatgttaat caaactgcaa gtagtaggca agaattaggc
     1801 acctactgta tgcccaatac agtgttatgc gtaatgagag ccgtagttgc cacacaggga
     1861 tccaggaagc ttaaaggata acccagaaaa caatcttaac agttacagga caacaaaaag
     1921 gtttacacac aacttgatcc acagagttga aggcaacatg caaaaaaatt taaaaccgca
     1981 tacaatataa taaaataaag tgctgaagaa atcagggcaa agggaaaata ggaagagaaa
     2041 aaatatataa ctccagaaaa gaagagagtg tgcaaactct atggaggaga tgagcaggat
     2101 accattagct gctgaaaggg gaggcttaga ccatggaggc tgagagctca gaagagaagc
     2161 agggttgggg aaggctggag cagatgggga gggtctctgc aagtccagcc ataccagcag
     2221 agcagcagta gttggggcat ctagagaggg gatgagactg ggccagcttg cagcagataa
     2281 tgactgagct gagcctggag tgagacctgt gggggcgaga ggattcttca cgttcctttt
     2341 tggaaccctt aggggagcac ccaggtgtaa gcccttgccc accctgtttt tgccatcacc
     2401 acggggcagt ggactgttaa cccacatgac ttcaggtcag ttgaggtatg agccaaatcc
     2461 tgcctcatct tcctcagttg tagcccctcc tccacattct acaggtttgt tctcttcctg
     2521 tcctattctg ccctttgcaa ttccctgggc tggaatgcct agtctcctcc tctctccctg
     2581 tcagtgctct accatcctct gtgcagcatt ggctcaccca gctcttcgtt ttcctgacct
     2641 gggctgcctg cattgctcat tggacccctg gctgtaacat cattgtgtgt gcacaaccac
     2701 gtgtgtggat tgtaagggca gagatcctgt taagtgagct gggggacttc cctgtcccag
     2761 attaaaatga tgatgccttg aaagaaccca ggctacagag gccactagtt aggaacctag
     2821 tgctgacctc tgttgttgga tgaggactct cgttccttca tcaaaatccc cagctctggc
     2881 ttctgggcag atgcctgtcc cagccctttc cagcctctcc atggccttgg gaagacttct
     2941 ctgggtggtt ctcattggtc tccatccccc aggacctgag gcccatgggg aatcttggcc
     3001 tcgtcagaag tggagaatgc agtgtcagca tgacacctcc ggggcatgga ggctcgcgcc
     3061 agggctgcac ctagctgcct cttctcctgg cctatgtccc aaccctggag aatgctgccc
     3121 tcagaagcct gggaccttcc agccctggag tagcctagtc tgataagtct caacaataaa
     3181 ccctgacttt tgcatcttgt gaa
//
