LOCUS       NM_006063               2460 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens kelch like family member 41 (KLHL41), mRNA.
ACCESSION   NM_006063
VERSION     NM_006063.3
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 2460)
  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   2  (bases 1 to 2460)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2460)
  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
REFERENCE   4  (bases 1 to 2460)
  AUTHORS   Marttila,M., Hanif,M., Lemola,E., Nowak,K.J., Laitila,J.,
            Gronholm,M., Wallgren-Pettersson,C. and Pelin,K.
  TITLE     Nebulin interactions with actin and tropomyosin are altered by
            disease-causing mutations
  JOURNAL   Skelet Muscle 4, 15 (2014)
   PUBMED   25110572
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2460)
  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
  REMARK    GeneRIF: Mutations in KLHL41 showed phenotype-genotype correlation:
            Frameshift mutations resulted in severe phenotypes with neonatal
            death, whereas missense changes resulted in impaired motor function
            with survival into late childhood and/or early adulthood.
REFERENCE   6  (bases 1 to 2460)
  AUTHORS   Zhang,D.D., Lo,S.C., Sun,Z., Habib,G.M., Lieberman,M.W. and
            Hannink,M.
  TITLE     Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for
            Cul3, targets Keap1 for degradation by a proteasome-independent
            pathway
  JOURNAL   J Biol Chem 280 (34), 30091-30099 (2005)
   PUBMED   15983046
REFERENCE   7  (bases 1 to 2460)
  AUTHORS   Lim,D.S., Roberts,R. and Marian,A.J.
  TITLE     Expression profiling of cardiac genes in human hypertrophic
            cardiomyopathy: insight into the pathogenesis of phenotypes
  JOURNAL   J Am Coll Cardiol 38 (4), 1175-1180 (2001)
   PUBMED   11583900
REFERENCE   8  (bases 1 to 2460)
  AUTHORS   Spence,H.J., Johnston,I., Ewart,K., Buchanan,S.J., Fitzgerald,U.
            and Ozanne,B.W.
  TITLE     Krp1, a novel kelch related protein that is involved in pseudopod
            elongation in transformed cells
  JOURNAL   Oncogene 19 (10), 1266-1276 (2000)
   PUBMED   10713668
REFERENCE   9  (bases 1 to 2460)
  AUTHORS   Taylor,A., Obholz,K., Linden,G., Sadiev,S., Klaus,S. and
            Carlson,K.D.
  TITLE     DNA sequence and muscle-specific expression of human sarcosin
            transcripts
  JOURNAL   Mol Cell Biochem 183 (1-2), 105-112 (1998)
   PUBMED   9655184
REFERENCE   10 (bases 1 to 2460)
  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 AF333387.1, BC006534.2,
            AF056929.1 and AA194290.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_006063.2.
            
            Summary: This gene is a member of the kelch-like family. The
            encoded protein contains a BACK domain, a BTB/POZ domain, and 5
            Kelch repeats. This protein is thought to function in skeletal
            muscle development and maintenance. Mutations in this gene have
            been associated with nemaline myopathy (NM), a rare congenital
            muscle disorder. [provided by RefSeq, Mar 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.230697.1,
                                           SRR1660809.122045.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284669.2/ ENSP00000284669.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AF333387.1         1-22
            23-2123             BC006534.2         1-2101
            2124-2457           AF056929.1         2094-2427
            2458-2460           AA194290.1         13-15               c
FEATURES             Location/Qualifiers
     source          1..2460
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..2460
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /note="kelch like family member 41"
                     /db_xref="GeneID:10324"
                     /db_xref="HGNC:HGNC:16905"
                     /db_xref="MIM:607701"
     exon            1..1187
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1898
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /note="sarcomeric muscle protein; kel-like protein 23;
                     kelch-related protein 1; kelch repeat and BTB (POZ) domain
                     containing 10"
                     /codon_start=1
                     /product="kelch-like protein 41"
                     /protein_id="NP_006054.2"
                     /db_xref="CCDS:CCDS2234.1"
                     /db_xref="GeneID:10324"
                     /db_xref="HGNC:HGNC:16905"
                     /db_xref="MIM:607701"
                     /translation="MDSQRELAEELRLYQSTLLQDGLKDLLDEKKFIDCTLKAGDKSL
                     PCHRLILSACSPYFREYFLSEIDEAKKKEVVLDNVDPAILDLIIKYLYSASIDLNDGN
                     VQDIFALASRFQIPSVFTVCVSYLQKRLAPGNCLAILRLGLLLDCPRLAISAREFVSD
                     RFVQICKEEDFMQLSPQELISVISNDSLNVEKEEAVFEAVMKWVRTDKENRVKNLSEV
                     FDCIRFRLMTEKYFKDHVEKDDIIKSNPDLQKKIKVLKDAFAGKLPEPSKNAAKTGAG
                     EVNGDVGDEDLLPGYLNDIPRHGMFVKDLILLVNDTAAVAYDPTENECYLTALAEQIP
                     RNHSSIVTQQNQIYVVGGLYVDEENKDQPLQSYFFQLDSIASEWVGLPPLPSARCLFG
                     LGEVDDKIYVVAGKDLQTEASLDSVLCYDPVAAKWNEVKKLPIKVYGHNVISHKGMIY
                     CLGGKTDDKKCTNRVFIFNPKKGDWKDLAPMKIPRSMFGVAVHKGKIVIAGGVTEDGL
                     SASVEAFDLTTNKWDVMTEFPQERSSISLVSLAGSLYAIGGFAMIQLESKEFAPTEVN
                     DIWKYEDDKKEWAGMLKEIRYASGASCLATRLNLFKLSKL"
     exon            1188..1345
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1453
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1454..1639
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1640..1786
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1787..2460
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2106..2111
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /note="hexamer: ATTAAA"
     polyA_site      2127
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
     regulatory      2439..2444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /note="hexamer: AGTAAA"
     polyA_site      2460
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /note="major polyA site"
ORIGIN      
        1 ctttttacag ctagacctgt gtgctgcaag gagctaaggc cttcagtgtc cccttcctta
       61 cccaggtttc tcacagaatg gattcccagc gggaacttgc agaggaactg cggctttacc
      121 aatccaccct tcttcaggat ggtctaaaag atctcctgga tgagaaaaaa ttcatcgatt
      181 gcaccctaaa agcaggtgac aaaagtcttc cttgccacag attgattttg tcagcttgta
      241 gtccttactt ccgtgagtac tttttatctg aaattgatga ggcgaaaaaa aaggaggtag
      301 tgctagacaa tgtggatcct gctatacttg atttaatcat caaatacctg tactctgcca
      361 gtattgatct caatgacgga aatgtgcaag atatttttgc attggccagc cgctttcaga
      421 tcccctcagt gtttactgtc tgcgtttctt atcttcagaa aagacttgct cctggtaact
      481 gtctagccat cctaagatta ggacttcttc ttgactgccc gagactcgcc atttctgccc
      541 gtgaatttgt gtctgatcgc tttgtacaga tttgtaagga agaggacttt atgcaactgt
      601 ctccacagga actgatctca gtcatttcaa atgacagcct aaatgtagaa aaagaagaag
      661 cagtatttga ggcagtgatg aaatgggtgc gaacagacaa ggaaaacagg gttaaaaacc
      721 ttagtgaagt gtttgattgt atccgttttc gccttatgac agaaaaatat tttaaggatc
      781 atgttgagaa agatgatata attaaaagca acccagacct ccagaaaaaa atcaaagttc
      841 taaaagatgc tttcgcaggc aaactcccag aacctagcaa aaatgccgcg aagactgggg
      901 ctggtgaggt gaatggtgat gttggtgatg aagatttact tcctggttac ctgaatgaca
      961 ttcccaggca tggaatgttt gtaaaagacc tcatcctctt ggttaatgac acagcagcag
     1021 tggcttatga ccccacggaa aatgaatgct accttactgc actggctgag cagattccca
     1081 gaaatcattc cagcattgtt acccagcaaa atcagatata tgtggtagga ggactatatg
     1141 tggatgaaga aaataaggat caacctctac agtcatactt cttccagctc gatagcatag
     1201 catctgaatg ggttggactt ccacctctgc cttcagccag gtgtctcttc ggtctgggag
     1261 aggtggatga taaaatctat gtagttgcag gcaaagacct tcaaacagag gcttcgctgg
     1321 attcagtatt atgctatgat cctgtggctg caaaatggaa cgaagtaaaa aaactcccta
     1381 tcaaagtcta tggccataat gtgatttcac ataaagggat gatatattgt ctaggaggaa
     1441 agacagatga caaaaaatgt acaaacaggg tgtttatctt caaccccaaa aaaggagatt
     1501 ggaaagatct ggctccaatg aaaattcctc gttccatgtt tggagtagca gtccataaag
     1561 gcaaaattgt gattgcagga ggtgtcactg aagatggtct ttcagcttca gttgaagctt
     1621 ttgaccttac aacaaataaa tgggatgtaa tgaccgaatt tccccaagaa agaagctcca
     1681 tcagtttggt cagcctggct ggatctctgt atgcaattgg tggttttgct atgattcaac
     1741 tggagtctaa agaatttgca cccactgaag tcaatgacat atggaagtat gaagatgata
     1801 aaaaagaatg ggctgggatg ttgaaggaaa tacgttatgc ttcaggagct agttgcctag
     1861 caacacgttt aaatctcttc aaactgtcta aactgtgaac aaggtgacaa aacataatag
     1921 attgggaggt ggtttgtttg gtgaatgggg ctttaattta ttctgttttt taaaagcttg
     1981 tacagacact catgtagaaa ttattcaaga agttattgtc taagagatga gcagtaggta
     2041 agaaaacctc agtcattgac tcttcaatgt aatgatcaga gtttaaaacc attttctaat
     2101 aataaattaa atcttcagtt gaacaaatta ttttgtgaat ctgtttcact caatggattg
     2161 taaagaaggc tcctaaattt gagttgtttg ctaatcattt catttgcatc attagggtat
     2221 ccttaaactg attttctatt acaattggaa gtggagaata tgtgcatcta cactaaaaaa
     2281 atgtttaaga tatcaaaaac ctctcctcgt gcttcaaaat gacaggaatc ctgtgcatta
     2341 tactaagaat tacatgccat aagatgactt cagaaatcct acttcagaag tgtaataaat
     2401 ggatggggaa atcgtttgat ggggaaaagt ctcttgtaag taaaagtagt caaattcaaa
//
