LOCUS       NM_001081087            2538 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus kelch-like 41 (Klhl41), mRNA.
ACCESSION   NM_001081087 XM_130293
VERSION     NM_001081087.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2538)
  AUTHORS   Jirka,C., Pak,J.H., Grosgogeat,C.A., Marchetii,M.M. and Gupta,V.A.
  TITLE     Dysregulation of NRAP degradation by KLHL41 contributes to
            pathophysiology in nemaline myopathy
  JOURNAL   Hum Mol Genet 28 (15), 2549-2560 (2019)
   PUBMED   30986853
  REMARK    GeneRIF: Dysregulation of NRAP degradation by KLHL41 contributes to
            pathophysiology in nemaline myopathy.
REFERENCE   2  (bases 1 to 2538)
  AUTHORS   Ramirez-Martinez,A., Cenik,B.K., Bezprozvannaya,S., Chen,B.,
            Bassel-Duby,R., Liu,N. and Olson,E.N.
  TITLE     KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic
            ubiquitination
  JOURNAL   Elife 6, e26439 (2017)
   PUBMED   28826497
  REMARK    GeneRIF: Loss of KLHL41 leads to nemaline myopathy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2538)
  AUTHORS   Garg,A., O'Rourke,J., Long,C., Doering,J., Ravenscroft,G.,
            Bezprozvannaya,S., Nelson,B.R., Beetz,N., Li,L., Chen,S.,
            Laing,N.G., Grange,R.W., Bassel-Duby,R. and Olson,E.N.
  TITLE     KLHL40 deficiency destabilizes thin filament proteins and promotes
            nemaline myopathy
  JOURNAL   J Clin Invest 124 (8), 3529-3539 (2014)
   PUBMED   24960163
REFERENCE   4  (bases 1 to 2538)
  AUTHORS   Gupta,V.A., Ravenscroft,G., Shaheen,R., Todd,E.J., Swanson,L.C.,
            Shiina,M., Ogata,K., Hsu,C., Clarke,N.F., Darras,B.T., Farrar,M.A.,
            Hashem,A., Manton,N.D., Muntoni,F., North,K.N., Sandaradura,S.A.,
            Nishino,I., Hayashi,Y.K., Sewry,C.A., Thompson,E.M., Yau,K.S.,
            Brownstein,C.A., Yu,T.W., Allcock,R.J., Davis,M.R.,
            Wallgren-Pettersson,C., Matsumoto,N., Alkuraya,F.S., Laing,N.G. and
            Beggs,A.H.
  TITLE     Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated
            Ubiquitination as an Alternate Pathway to Myofibrillar Disruption
            in Nemaline Myopathy
  JOURNAL   Am J Hum Genet 93 (6), 1108-1117 (2013)
   PUBMED   24268659
REFERENCE   5  (bases 1 to 2538)
  AUTHORS   du Puy,L., Beqqali,A., van Tol,H.T., Monshouwer-Kloots,J.,
            Passier,R., Haagsman,H.P. and Roelen,B.A.
  TITLE     Sarcosin (Krp1) in skeletal muscle differentiation: gene expression
            profiling and knockdown experiments
  JOURNAL   Int J Dev Biol 56 (4), 301-309 (2012)
   PUBMED   22562206
  REMARK    GeneRIF: Data show that Sarcosin (Krp1) mRNA is expressed in the
            myotome part of the mature somites in mouse embryos from embryonic
            day 9.5 onwards.
REFERENCE   6  (bases 1 to 2538)
  AUTHORS   Paxton,C.W., Cosgrove,R.A., Drozd,A.C., Wiggins,E.L., Woodhouse,S.,
            Watson,R.A., Spence,H.J., Ozanne,B.W. and Pell,J.M.
  TITLE     BTB-Kelch protein Krp1 regulates proliferation and differentiation
            of myoblasts
  JOURNAL   Am J Physiol Cell Physiol 300 (6), C1345-C1355 (2011)
   PUBMED   21368295
REFERENCE   7  (bases 1 to 2538)
  AUTHORS   Greenberg,C.C., Connelly,P.S., Daniels,M.P. and Horowits,R.
  TITLE     Krp1 (Sarcosin) promotes lateral fusion of myofibril assembly
            intermediates in cultured mouse cardiomyocytes
  JOURNAL   Exp Cell Res 314 (5), 1177-1191 (2008)
   PUBMED   18178185
  REMARK    GeneRIF: Krp1 promotes lateral fusion of adjacent thin fibrils into
            mature, wide myofibrils and contribute insight into mechanisms of
            myofibrillogenesis and disassembly
REFERENCE   8  (bases 1 to 2538)
  AUTHORS   Lu,S., Carroll,S.L., Herrera,A.H., Ozanne,B. and Horowits,R.
  TITLE     New N-RAP-binding partners alpha-actinin, filamin and Krp1 detected
            by yeast two-hybrid screening: implications for myofibril assembly
  JOURNAL   J Cell Sci 116 (Pt 11), 2169-2178 (2003)
   PUBMED   12692149
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL929083.8.
            
            On Feb 6, 2007 this sequence version replaced XM_130293.6.
            
            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 exon combination :: SRR1660811.30948.1, BC150698.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849384
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-1187              AL929083.8         69857-71043
            1188-1345           AL929083.8         74095-74252
            1346-1453           AL929083.8         74360-74467
            1454-1639           AL929083.8         77817-78002
            1640-1786           AL929083.8         79421-79567
            1787-2538           AL929083.8         83225-83976
FEATURES             Location/Qualifiers
     source          1..2538
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 40.92 cM"
     gene            1..2538
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /note="kelch-like 41"
                     /db_xref="GeneID:228003"
                     /db_xref="MGI:MGI:2683854"
     exon            1..1187
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1898
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /note="kelch repeat and BTB (POZ) domain containing 10;
                     kelch repeat and BTB domain-containing protein 10"
                     /codon_start=1
                     /product="kelch-like protein 41"
                     /protein_id="NP_001074556.1"
                     /db_xref="CCDS:CCDS38136.1"
                     /db_xref="GeneID:228003"
                     /db_xref="MGI:MGI:2683854"
                     /translation="MDSQRELAEELRLYQSTLLQDGLKDLLEEKKFIDCTLKAGDKSF
                     PCHRLILSACSPYFREYFLSEIEEEKKKEVALDNVDPAILDLIIKYLYSASIDLNDGN
                     VQDIFALSSRFQIPSVFTVCVSYLQKRLAPGNCLAILRLGLLLDCPRLAISAREFVSD
                     RFVQICKEEDFMQLSPQELISVISNDSLNVEKEEVVFEAVMKWVRTDKENRAKNLSEV
                     FDCIRFRLMAEKYFKDHVEKDDIIKSNPEVQKKIKVLKDAFAGKLPEPSKNAEKAGAG
                     EVNGDVGDEDLLPGYLNDIPRHGMFVKDLILLVNDTAAVAYDPMENECYLTALAEQIP
                     RNHSSLVTQQNQVYVVGGLYVDEENKDQPLQSYFFQLDNVTSEWVGLPPLPSARCLFG
                     LGEVDDKIYVVAGKDLQTEASLDSVLCYDPVAAKWSEVKNLPIKVYGHNVISHNGMIY
                     CLGGKTDDKKCTNRVFIYNPKKGDWKDLAPMKTPRSMFGVAIHKGKIVIAGGVTEDGL
                     SASVEAFDLKTNKWEVMTEFPQERSSISLVSLAGALYAIGGFAMIQLESKEFAPTEVN
                     DIWKYEDDKKEWAGMLKEIRYASGASCLATRLNLFKLSKL"
     exon            1188..1345
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1453
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1454..1639
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1640..1786
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1787..2538
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1894..1899
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
                     /note="hexamer: TATAAA"
     polyA_site      1913
                     /gene="Klhl41"
                     /gene_synonym="Gm112; Kbtbd10; SARCOSIN"
ORIGIN      
        1 ctttttacag ctagacctgt gtgcaaccag gagcgaagac cctcagtgtc cccctcctta
       61 cccaggttcc tcacagaatg gattcccagc gggagcttgc agaggaactc cggctttacc
      121 aatccaccct tcttcaggat ggtctaaaag atctcctgga agagaaaaag ttcatcgatt
      181 gcaccctaaa agcaggtgac aaaagttttc cttgccacag actgatacta tcggcttgta
      241 gcccttactt ccgtgagtat tttttatctg aaattgagga ggagaaaaaa aaggaggtag
      301 ccctagacaa cgtggatcct gctatacttg atttaatcat caaatatctg tactctgcca
      361 gtatcgatct caatgatggg aatgtgcaag acatcttcgc cctgtccagc cgcttccaga
      421 ttccgtcggt gttcaccgtc tgtgtgtctt accttcagaa aagactggct cccggtaact
      481 gtctggccat cctaagattg gggctgcttc tcgactgccc gagacttgcc atttctgccc
      541 gggagtttgt gtctgatcgc tttgtgcaga tttgtaagga agaagatttc atgcaactgt
      601 ccccacaaga actgatctcc gtcatttcaa acgacagcct caacgtagaa aaggaggaag
      661 tagtatttga ggccgtgatg aaatgggtgc ggacagacaa agaaaacagg gcaaaaaatc
      721 ttagtgaggt gtttgactgt attcgttttc gccttatggc agagaaatat ttcaaagatc
      781 atgtcgagaa agatgacata attaaaagca acccagaagt ccagaaaaaa atcaaagttc
      841 taaaagacgc ttttgcaggc aaacttccgg aacccagcaa aaatgcagag aaggcagggg
      901 cgggcgaggt gaacggcgat gttggtgatg aagacttact tcccggttac ctgaacgata
      961 tccccaggca tggaatgttt gttaaagatc tcatcctctt ggtcaatgac acggctgcag
     1021 tagcgtatga ccccatggaa aatgagtgct accttactgc cctggcagag cagatcccca
     1081 gaaaccattc cagtcttgtt acccaacaga atcaggtcta cgtggtcggg ggactgtatg
     1141 tggacgaaga aaataaggat caacccctgc aatcgtactt tttccagctt gataacgtaa
     1201 catctgagtg ggtcggactt ccgcctctcc catcagccag gtgtctcttt ggcctgggag
     1261 aagtagatga caaaatctat gtggtggccg gcaaagacct tcaaacagag gcctcactgg
     1321 attccgtgct atgctacgat cctgtggctg caaagtggag tgaagtgaaa aatcttccta
     1381 ttaaagttta tggccataat gtgatttcac acaatgggat gatatactgt ctaggcggaa
     1441 agacagatga caaaaagtgt acaaataggg tatttatcta caaccccaag aaaggagact
     1501 ggaaagatct ggctccgatg aaaacccctc gttccatgtt tggcgtggca atccataaag
     1561 gcaagattgt gatcgcagga ggtgtcactg aagatggtct ttcagcttca gttgaagcct
     1621 ttgacctcaa aaccaataag tgggaagtga tgacggaatt tccccaagaa agaagttcta
     1681 tcagcctggt gagcctggcg ggagccctgt acgccatcgg tggctttgcg atgatccagc
     1741 tggaatctaa agagtttgca cccactgaag tcaatgacat atggaagtat gaagatgata
     1801 aaaaagaatg ggctgggatg ctgaaggaaa tccgttacgc ttcgggagct agttgcctag
     1861 caacgcgctt aaatctgttt aaactgtcta aactataaag gaggtgacaa agacacagtt
     1921 tgagaggtgg cttgttggga caagaggctt taatttattg tcattcttta agcctataca
     1981 atgattcaca tagggttaca gggattcacg cagtttctct ggggtaaaac agtgtaaccg
     2041 aatcccagag attttcagtg tgccaagtat aaaaccattt gctaggaagt ttagtattca
     2101 gttgaacaat atattttttt tttttttttt tttggttttt tgagacaggg tttctctgta
     2161 tagccctggc tgtcctggag ctcactttgt agaccaggct ggcctcgaac tcagaaatcc
     2221 gcctgcctct gcctcccgag tgctgggatt aaaggcgtgc gccaccacgc ccggcttgaa
     2281 caatatattt tgttaaacct ttctcaaaga agtgagcttt ctacatcgga gctgtttact
     2341 aaccctttgt attcttaagg tacatctact tgttgtctat tataaatgaa atgcatctgt
     2401 ctacattctt aagaaatgtt tgaataacgg aaacctttcc ccactttgag ctacaacagg
     2461 aatcttgtgc attataatga agatgactgg aaatgctgtt taggaagtat aataaatgag
     2521 tctccagtcc ttcctccc
//
