LOCUS       NM_152393               2499 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens kelch like family member 40 (KLHL40), mRNA.
ACCESSION   NM_152393
VERSION     NM_152393.4
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 2499)
  AUTHORS   Yuan,H., Wang,Q., Zeng,X., He,P., Xu,W., Guo,H., Liu,Y. and Lin,Y.
  TITLE     Clinical and molecular analysis of four unrelated Chinese families
            with pathogenic KLHL40 variants causing nemaline myopathy 8
  JOURNAL   Orphanet J Rare Dis 17 (1), 149 (2022)
   PUBMED   35379254
  REMARK    GeneRIF: Clinical and molecular analysis of four unrelated Chinese
            families with pathogenic KLHL40 variants causing nemaline myopathy
            8.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2499)
  AUTHORS   Yi,S., Zhang,Y., Qin,Z., Yi,S., Zheng,H., Luo,J., Li,Q., Wang,J.,
            Yang,Q., Li,M., Chen,F., Zhang,Q., Zhang,Q. and Shen,Y.
  TITLE     A novel and recurrent KLHL40 pathogenic variants in a Chinese
            family of multiple affected neonates with nemaline myopathy 8
  JOURNAL   Mol Genet Genomic Med 9 (6), e1683 (2021)
   PUBMED   33978323
  REMARK    GeneRIF: A novel and recurrent KLHL40 pathogenic variants in a
            Chinese family of multiple affected neonates with nemaline myopathy
            8.
REFERENCE   3  (bases 1 to 2499)
  AUTHORS   Yeung,K.S., Yu,F.N.Y., Fung,C.W., Wong,S., Lee,H.H.C., Fung,S.T.H.,
            Fung,G.P.G., Leung,K.Y., Chung,W.H., Lee,Y.T., Ng,V.K.S.,
            Yu,M.H.C., Fung,J.L.F., Tsang,M.H.Y., Chan,K.Y.K., Chan,S.H.S.,
            Kan,A.S.Y. and Chung,B.H.Y.
  TITLE     The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing
            nemaline myopathy 8: Report of six patients with pre- and postnatal
            phenotypes
  JOURNAL   Mol Genet Genomic Med 8 (7), e1229 (2020)
   PUBMED   32352246
  REMARK    GeneRIF: The KLHL40 c.1516A>C is a Chinese-specific founder
            mutation causing nemaline myopathy 8: Report of six patients with
            pre- and postnatal phenotypes.
REFERENCE   4  (bases 1 to 2499)
  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   5  (bases 1 to 2499)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2499)
  AUTHORS   Chen,T.H., Tian,X., Kuo,P.L., Pan,H.P., Wong,L.C. and Jong,Y.J.
  TITLE     Identification of KLHL40 mutations by targeted next-generation
            sequencing facilitated a prenatal diagnosis in a family with three
            consecutive affected fetuses with fetal akinesia deformation
            sequence
  JOURNAL   Prenat Diagn 36 (12), 1135-1138 (2016)
   PUBMED   27762439
  REMARK    GeneRIF: Two compound heterozygous mutations; c.602G > A(p.W201*)
            and c.1516A > C(p.T506P), in the Kelch-like 40 (KLHL40) gene were
            discovered in a family with 3 fetuses affected by fetal akinesia
            deformation sequence.
REFERENCE   7  (bases 1 to 2499)
  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
  REMARK    GeneRIF: NEB and LMOD3 were reduced in skeletal muscle of
            KLHL40-deficient patients, providing a potential basis for the
            development of nemaline myopathy.
REFERENCE   8  (bases 1 to 2499)
  AUTHORS   Ravenscroft,G., Miyatake,S., Lehtokari,V.L., Todd,E.J.,
            Vornanen,P., Yau,K.S., Hayashi,Y.K., Miyake,N., Tsurusaki,Y.,
            Doi,H., Saitsu,H., Osaka,H., Yamashita,S., Ohya,T., Sakamoto,Y.,
            Koshimizu,E., Imamura,S., Yamashita,M., Ogata,K., Shiina,M.,
            Bryson-Richardson,R.J., Vaz,R., Ceyhan,O., Brownstein,C.A.,
            Swanson,L.C., Monnot,S., Romero,N.B., Amthor,H., Kresoje,N.,
            Sivadorai,P., Kiraly-Borri,C., Haliloglu,G., Talim,B., Orhan,D.,
            Kale,G., Charles,A.K., Fabian,V.A., Davis,M.R., Lammens,M.,
            Sewry,C.A., Manzur,A., Muntoni,F., Clarke,N.F., North,K.N.,
            Bertini,E., Nevo,Y., Willichowski,E., Silberg,I.E., Topaloglu,H.,
            Beggs,A.H., Allcock,R.J., Nishino,I., Wallgren-Pettersson,C.,
            Matsumoto,N. and Laing,N.G.
  TITLE     Mutations in KLHL40 are a frequent cause of severe
            autosomal-recessive nemaline myopathy
  JOURNAL   Am J Hum Genet 93 (1), 6-18 (2013)
   PUBMED   23746549
  REMARK    GeneRIF: KLHL40 mutations as a frequent cause of severe
            autosomal-recessive nemaline myopathy. It plays a key role in
            muscle development and function.
REFERENCE   9  (bases 1 to 2499)
  AUTHORS   Dhanoa,B.S., Cogliati,T., Satish,A.G., Bruford,E.A. and
            Friedman,J.S.
  TITLE     Update on the Kelch-like (KLHL) gene family
  JOURNAL   Hum Genomics 7 (1), 13 (2013)
   PUBMED   23676014
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 2499)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY177390.1, AK291294.1, AI274020.1, AW445105.1 and KC876887.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_152393.3.
            
            Summary: This gene encodes a protein containing a BACK domain, a
            BTB/POZ domain, and 5 Kelch repeats, however, its exact function is
            not known. The gene and the multi-domain protein structure are
            conserved across different taxa, including primates, rodents,
            chicken and zebrafish. [provided by RefSeq, Dec 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK291294.1, DRR138525.393269.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287777.5/ ENSP00000287777.4
            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
            1-2134              AY177390.1         19-2152
            2135-2261           AK291294.1         2135-2261
            2262-2395           AI274020.1         9-142               c
            2396-2401           AW445105.1         18-23               c
            2402-2499           KC876887.1         31-128              c
FEATURES             Location/Qualifiers
     source          1..2499
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..2499
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /note="kelch like family member 40"
                     /db_xref="GeneID:131377"
                     /db_xref="HGNC:HGNC:30372"
                     /db_xref="MIM:615340"
     exon            1..1234
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..1948
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /note="kelch repeat and BTB domain-containing protein 5;
                     kelch repeat and BTB (POZ) domain containing 5; nemaline
                     myopathy type 8; sarcosynapsin"
                     /codon_start=1
                     /product="kelch-like protein 40"
                     /protein_id="NP_689606.2"
                     /db_xref="CCDS:CCDS2703.1"
                     /db_xref="GeneID:131377"
                     /db_xref="HGNC:HGNC:30372"
                     /db_xref="MIM:615340"
                     /translation="MALGLEQAEEQRLYQQTLLQDGLKDMLDHGKFLDCVVRAGEREF
                     PCHRLVLAACSPYFRARFLAEPERAGELHLEEVSPDVVAQVLHYLYTSEIALDEASVQ
                     DLFAAAHRFQIPSIFTICVSFLQKRLCLSNCLAVFRLGLLLDCARLAVAARDFICAHF
                     TLVARDADFLGLSADELIAIISSDGLNVEKEEAVFEAVMRWAGSGDAEAQAERQRALP
                     TVFESVRCRLLPRAFLESRVERHPLVRAQPELLRKVQMVKDAHEGRITTLRKKKKGKD
                     GAGAKEADKGTSKAKAEEDEEAERILPGILNDTLRFGMFLQDLIFMISEEGAVAYDPA
                     ANECYCASLSNQVPKNHVSLVTKENQVFVAGGLFYNEDNKEDPMSAYFLQFDHLDSEW
                     LGMPPLPSPRCLFGLGEALNSIYVVGGREIKDGERCLDSVMCYDRLSFKWGESDPLPY
                     VVYGHTVLSHMDLVYVIGGKGSDRKCLNKMCVYDPKKFEWKELAPMQTARSLFGATVH
                     DGRIIVAAGVTDTGLTSSAEVYSITDNKWAPFEAFPQERSSLSLVSLVGTLYAIGGFA
                     TLETESGELVPTELNDIWRYNEEEKKWEGVLREIAYAAGATFLPVRLNVLCLTKM"
     exon            1235..1395
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1503
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1504..1689
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1836
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1837..2499
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2358..2363
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /note="hexamer: AATAAA"
     polyA_site      2381
                     /gene="KLHL40"
                     /gene_synonym="KBTBD5; NEM8; SRYP; SYRP"
                     /note="major polyA site"
ORIGIN      
        1 agtctaagca aaccccagca ggaaagcagg ggtacagaga ggagccccct tggcaccgcc
       61 accgcaccct aggccaccca ccatggcgct gggcttggag caggcggagg agcagcggtt
      121 gtaccagcag acgctcctgc aagacgggct caaagacatg ctggaccatg gcaagttcct
      181 cgactgtgtg gtgcgggcgg gcgagcgcga gttcccgtgc catcgcctgg tgctggccgc
      241 ctgcagcccc tacttccggg cgcgctttct agccgagccg gagcgcgcgg gcgagctgca
      301 cctggaggag gtgtccccgg acgtggtggc ccaggtgctg cactacctgt acacatcaga
      361 gatcgcgctg gatgaggcga gcgtgcagga tttgttcgcc gcggcacacc gcttccagat
      421 cccttccatc ttcaccatct gcgtgtcctt cctgcagaag cgcctgtgcc tctccaactg
      481 cttggccgtc ttccgtctcg gcctcctgct cgactgcgcg cgtctcgccg tggctgcccg
      541 cgacttcatc tgcgctcact tcacgctggt ggcgcgcgac gctgacttcc tcggactctc
      601 ggccgacgag ctcatcgcca tcatctccag cgacggcctt aacgtggaga aggaggaggc
      661 agtgttcgag gcggtgatgc ggtgggcggg tagcggcgac gccgaggcgc aggctgagcg
      721 ccagcgcgcg ctgcccaccg tcttcgagag cgtgcgctgc cgcttgctgc cgcgcgcctt
      781 tctggaaagc cgcgtggagc gccaccctct cgtgcgtgcc cagcccgagt tgctgcgcaa
      841 ggtgcagatg gtgaaggatg cacacgaggg ccgcatcacc acgctgcgga agaaaaagaa
      901 ggggaaggat ggagccgggg ccaaggaggc tgataagggc acaagcaaag ccaaagcaga
      961 ggaggatgag gaggccgaac gtatccttcc tgggatcctc aatgacaccc tgcgcttcgg
     1021 catgttcctg caggatctca tcttcatgat cagtgaggag ggcgctgtgg cctacgatcc
     1081 agcagccaac gagtgctact gtgcttccct ctccaaccag gtccccaaga accacgtcag
     1141 cctggttacc aaggagaacc aggtcttcgt ggctggaggc ctcttctaca acgaagacaa
     1201 caaagaggac cccatgagcg catacttcct gcagtttgac catctggact cagagtggct
     1261 ggggatgcca ccgctgccct cgccccgctg cctctttggc ctgggagaag ctctcaactc
     1321 catctacgtg gtcggtggca gagagatcaa ggacggcgag cgctgcctgg actcggtcat
     1381 gtgctacgac aggctgtcat tcaaatgggg tgaatcggac ccgctgcctt acgtggtgta
     1441 tggccacaca gtgctctccc acatggacct tgtctacgta attggcggca aaggcagtga
     1501 caggaagtgc ctgaacaaga tgtgcgtcta tgaccccaag aagtttgagt ggaaggagct
     1561 ggcacccatg cagaccgccc gctcactctt tggggccact gtccatgatg gccgcattat
     1621 cgtggcagct ggggtcaccg acacagggct gaccagttct gccgaagtgt acagcatcac
     1681 agacaacaag tgggcaccct tcgaggcctt cccacaggag cgtagctcac tcagcctggt
     1741 cagcctggtg ggtaccctct atgccattgg tggctttgcc acactggaga cggagtctgg
     1801 agagctggtt cccacagagc tcaatgacat ctggaggtat aacgaggagg agaagaaatg
     1861 ggagggtgtc ctgcgggaga tcgcctatgc agcaggtgcc accttcctac cagtgcggct
     1921 caatgtgctg tgcctgacta agatgtgacc agctcaggca gactgaacta agcacccctc
     1981 ccatcctgcg accctcactg gcctggcctt gtgggggctc cagaaaagag gctaggagag
     2041 gccagagtct acctggatcc agttatggtg cctcaggggc tgcgtcagcc aaggaaaggg
     2101 aagtgctgct tagtcctgga cttttgggca agggtgagaa actagaggct tctccagtgt
     2161 tgccatatcc ccctaggttg tcttgatcca tgaaccagaa ccacagggcg gtatcccagg
     2221 ccgtgtgctg gccctgcccc agcctagctg agtgtgctgg caaagttccc cacaggactc
     2281 agccttctcg tctgtccgat gggagcatcc ccatcaagtg cagtgtacag tgcagatatg
     2341 tctccttctt taggaagaat aaagtgcctt ctgagcaagc agctcagggt ctgcatcagt
     2401 gctccaagag tcagtgagca ggtgtgttga agacttgggg cttcagtgtt ctgctgttgg
     2461 gctgccaagg tcgatggtct ctgctctcca tctggtgtc
//
