LOCUS       NM_027974               2208 bp    mRNA    linear   ROD 19-SEP-2024
DEFINITION  Mus musculus EF-hand domain (C-terminal) containing 1 (Efhc1),
            mRNA.
ACCESSION   NM_027974 XM_129694 XM_907335
VERSION     NM_027974.1
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 2208)
  AUTHORS   Tai,L., Yin,G., Huang,X., Sun,F. and Zhu,Y.
  TITLE     In-cell structural insight into the stability of sperm microtubule
            doublet
  JOURNAL   Cell Discov 9 (1), 116 (2023)
   PUBMED   37989994
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2208)
  AUTHORS   Chen,Z., Shiozaki,M., Haas,K.M., Skinner,W.M., Zhao,S., Guo,C.,
            Polacco,B.J., Yu,Z., Krogan,N.J., Lishko,P.V., Kaake,R.M.,
            Vale,R.D. and Agard,D.A.
  TITLE     De novo protein identification in mammalian sperm using in situ
            cryoelectron tomography and AlphaFold2 docking
  JOURNAL   Cell 186 (23), 5041-5053 (2023)
   PUBMED   37865089
REFERENCE   3  (bases 1 to 2208)
  AUTHORS   Zhou,L., Liu,H., Liu,S., Yang,X., Dong,Y., Pan,Y., Xiao,Z.,
            Zheng,B., Sun,Y., Huang,P., Zhang,X., Hu,J., Sun,R., Feng,S.,
            Zhu,Y., Liu,M., Gui,M. and Wu,J.
  TITLE     Structures of sperm flagellar doublet microtubules expand the
            genetic spectrum of male infertility
  JOURNAL   Cell 186 (13), 2897-2910 (2023)
   PUBMED   37295417
REFERENCE   4  (bases 1 to 2208)
  AUTHORS   Suzuki,T., Inoue,I. and Yamakawa,K.
  TITLE     Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile
            cilia but not in neurons or mitotic apparatuses in brain
  JOURNAL   Sci Rep 10 (1), 22076 (2020)
   PUBMED   33328576
  REMARK    GeneRIF: Epilepsy protein Efhc1/myoclonin1 is expressed in cells
            with motile cilia but not in neurons or mitotic apparatuses in
            brain.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2208)
  AUTHORS   Bailey,J.N., de Nijs,L., Bai,D., Suzuki,T., Miyamoto,H., Tanaka,M.,
            Patterson,C., Lin,Y.C., Medina,M.T., Alonso,M.E., Serratosa,J.M.,
            Duron,R.M., Nguyen,V.H., Wight,J.E., Martinez-Juarez,I.E.,
            Ochoa,A., Jara-Prado,A., Guilhoto,L., Molina,Y., Yacubian,E.M.,
            Lopez-Ruiz,M., Inoue,Y., Kaneko,S., Hirose,S., Osawa,M., Oguni,H.,
            Fujimoto,S., Grisar,T.M., Stern,J.M., Yamakawa,K., Lakaye,B. and
            Delgado-Escueta,A.V.
  TITLE     Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy
  JOURNAL   N Engl J Med 378 (11), 1018-1028 (2018)
   PUBMED   29539279
REFERENCE   6  (bases 1 to 2208)
  AUTHORS   McClintock,T.S., Glasser,C.E., Bose,S.C. and Bergman,D.A.
  TITLE     Tissue expression patterns identify mouse cilia genes
  JOURNAL   Physiol Genomics 32 (2), 198-206 (2008)
   PUBMED   17971504
  REMARK    GeneRIF: Efhc1 is most abundantly expressed in tissues rich in
            highly ciliated cells, such as olfactory sensory neurons, and is
            predicted to be important to cilia.
REFERENCE   7  (bases 1 to 2208)
  AUTHORS   King,S.M.
  TITLE     Axonemal protofilament ribbons, DM10 domains, and the link to
            juvenile myoclonic epilepsy
  JOURNAL   Cell Motil Cytoskeleton 63 (5), 245-253 (2006)
   PUBMED   16572395
REFERENCE   8  (bases 1 to 2208)
  AUTHORS   Ikeda,T., Ikeda,K., Enomoto,M., Park,M.K., Hirono,M. and Kamiya,R.
  TITLE     The mouse ortholog of EFHC1 implicated in juvenile myoclonic
            epilepsy is an axonemal protein widely conserved among organisms
            with motile cilia and flagella
  JOURNAL   FEBS Lett 579 (3), 819-822 (2005)
   PUBMED   15670853
  REMARK    GeneRIF: abundantly present in sperm flagella and tracheal cilia
            but only in a small amount in the brain
REFERENCE   9  (bases 1 to 2208)
  AUTHORS   Suzuki,T., Delgado-Escueta,A.V., Aguan,K., Alonso,M.E., Shi,J.,
            Hara,Y., Nishida,M., Numata,T., Medina,M.T., Takeuchi,T.,
            Morita,R., Bai,D., Ganesh,S., Sugimoto,Y., Inazawa,J., Bailey,J.N.,
            Ochoa,A., Jara-Prado,A., Rasmussen,A., Ramos-Peek,J., Cordova,S.,
            Rubio-Donnadieu,F., Inoue,Y., Osawa,M., Kaneko,S., Oguni,H.,
            Mori,Y. and Yamakawa,K.
  TITLE     Mutations in EFHC1 cause juvenile myoclonic epilepsy
  JOURNAL   Nat Genet 36 (8), 842-849 (2004)
   PUBMED   15258581
REFERENCE   10 (bases 1 to 2208)
  AUTHORS   Patel-King,R.S., Benashski,S.E. and King,S.M.
  TITLE     A bipartite Ca2+-regulated nucleoside-diphosphate kinase system
            within the Chlamydomonas flagellum. The regulatory subunit p72
  JOURNAL   J Biol Chem 277 (37), 34271-34279 (2002)
   PUBMED   12095989
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY037196.1, EU520262.1, AK006489.1 and AC156980.9.
            
            On or before Jul 23, 2009 this sequence version replaced
            XM_907335.2, XM_129694.8.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK006489.1, EU520262.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [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
            1-108               BY037196.1         1-108
            109-2055            EU520262.1         1-1947
            2056-2159           AK006489.1         1995-2098
            2160-2208           AC156980.9         8021-8069           c
FEATURES             Location/Qualifiers
     source          1..2208
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 6.5 cM"
     gene            1..2208
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /note="EF-hand domain (C-terminal) containing 1"
                     /db_xref="GeneID:71877"
                     /db_xref="MGI:MGI:1919127"
     exon            1..171
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..2055
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /note="myoclonin-1"
                     /codon_start=1
                     /product="EF-hand domain-containing protein 1"
                     /protein_id="NP_082250.1"
                     /db_xref="CCDS:CCDS48227.1"
                     /db_xref="GeneID:71877"
                     /db_xref="MGI:MGI:1919127"
                     /translation="MGTNPVHGLPFLPGSSFTDSTKTAFHRSQTLNYRNGYAVVRRPT
                     MGIGGDRLHYNQLSQAELDELANKAPILTYGPLKQAPLAEFVPAHVAFDKKVLKFSAY
                     FQEDVPISMEEHYRIRHVNIYYYLEDDSMSVIEPVVENSGIPQGKLIKRQRFTKNDMG
                     DHYHWKDLNRGINLTVYGKTFRIVDCDRFTQDFLESQGIELNPSEKIPLDPYTQLRKE
                     PVRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSLFGECRHYIIHYYLMDDTVEIR
                     EVHERNNGRDPFPLLMNRQRMPKVLVENAKNFPKCVLEISDQEVLEWYTAKDFIVGKP
                     LTILGRTFFIYDCDPFTRQFYKDKFGMPDLPPVDVTKKEPPPVKQELPPYNGYGLIED
                     SAQNCFALIPKAPRKDVVKMLMNDNKVLRYLAALESPIPEDKDRRFVFSYFLATDMIS
                     IFEPPVRNSGIIGGKFLGRTKVVKSFSPVDNPIYYSPSDFFIGAVIEVFGHRFVILDT
                     DEYVLKYMESNASQYSPEALASIQNRIQKPELPAPELESKQATGEPMVQGTEESKVQD
                     LDALIDQIHMHLKYNSCKENLRETFQMYDKDESGYVDRETFFKICETLNVPVDDSLIK
                     ELIRLCTHGEGRINYYNFVRAFSN"
     exon            172..393
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            394..681
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            682..831
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            832..1024
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1245
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1386
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1600
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            1601..1748
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1983
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2208
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2208
                     /gene="Efhc1"
                     /gene_synonym="1700029F22Rik; mRib72-1; myoclonin1"
                     /note="major polyA site"
ORIGIN      
        1 tagtgtgttt ggcgttacca gggagtctgg agaggcccgc gagtgcagtt tgttgccagg
       61 gtaacccgag cggcaaaagg caaccgaggt ggcagctgca gggcagcgat ggggaccaac
      121 ccggtgcacg gcctgccctt tctcccgggc tcgtccttta cagactccac gaaaacagca
      181 ttccaccgaa gccagacact caactacagg aacggctatg cagttgtccg acgtcccacc
      241 atggggatag gtggagaccg gctccactac aaccagctgt ctcaggccga gctggatgaa
      301 ctggccaata aggcacccat cttaacttac gggccactca agcaagcccc acttgcagag
      361 tttgttcctg cgcatgtggc ttttgacaaa aaggtgctga aatttagtgc ctacttccaa
      421 gaagatgttc ccatatcaat ggaggagcat taccgaatcc gccacgtgaa catttactac
      481 tacctagaag atgacagcat gtctgtcatc gagcccgtag tggagaactc tgggatccca
      541 caaggcaagc taatcaaacg ccagcggttc accaagaatg atatgggaga ccactaccac
      601 tggaaggacc tcaaccgtgg aatcaacctt acagtgtacg gcaaaacctt ccgaattgtt
      661 gactgtgacc gattcactca ggactttttg gaaagccaag gcattgaatt aaatccatca
      721 gagaagatac ccctggatcc ttacactcaa ctccggaaag aacctgtgcg caaatatgtc
      781 accccgtcag actttgacca actgaaacag tttctcacct ttgacaaaca ggtccttcga
      841 ttctatgcca tctgggacga cacggatagc ttgttcgggg aatgtcgtca ctacatcatt
      901 cattactacc tcatggatga caccgtggag atcagagagg tccacgaacg gaacaacggg
      961 agagacccct tcccactcct catgaaccga cagcgtatgc ccaaagtttt ggtggagaat
     1021 gcaaagaatt tcccgaagtg tgtgctggaa atctcagacc aagaggtgct ggagtggtac
     1081 actgccaagg acttcattgt ggggaagccg ctcaccatcc tggggaggac cttcttcatc
     1141 tacgactgtg acccattcac acgacagttc tacaaagaca agtttggaat gcctgactta
     1201 ccaccagttg atgtgaccaa gaaggagcca cctccagtaa aacaggagtt gcctccttat
     1261 aatggctatg gactaattga agactctgct cagaattgtt ttgctctcat tcctaaagct
     1321 cccagaaaag atgtcgttaa aatgctgatg aatgacaata aggtgctccg ctacctggcg
     1381 gccctggaat cccctatccc agaagacaaa gaccgtcggt ttgtcttctc ttattttctt
     1441 gccacggata tgatcagtat ctttgagcca cctgttcgaa attctgggat catcgggggc
     1501 aaattcctgg gcaggactaa agttgttaaa tcattctctc cagttgacaa ccccatctac
     1561 tactcaccaa gtgacttctt catcggtgcc gtgattgagg tgttcggcca tcggttcgtc
     1621 atcctcgata cagatgagta tgttttaaaa tacatggaga gcaacgcttc ccagtattca
     1681 ccagaagccc tggcctcaat tcagaaccgg atccagaagc cggagcttcc cgcaccagaa
     1741 ctggaaagca agcaagctac aggagaaccc atggtgcagg gtacagagga atccaaggtg
     1801 caggacttgg atgcactgat agaccaaatc catatgcacc tgaaatacaa ttcatgcaaa
     1861 gaaaacctcc gtgaaacatt tcaaatgtat gacaaggatg aatcgggata tgtggacaga
     1921 gagacgttct ttaaaatctg tgaaactctt aatgtcccgg tcgatgactc gttgattaag
     1981 gagttgatca ggctgtgcac ccacggagaa ggcaggatta actactataa ctttgttcga
     2041 gctttctcga actgacctga acgagagaat gcgacaacat ttttgacact gagccgacat
     2101 tgagaaatct accacccaag cctttcaata actccggaag tggtatttct tttcccactc
     2161 ttctatttca ctattactca agtctaaatt aatattcaaa gaattgaa
//
