LOCUS       NM_024593               2104 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens calaxin (CLXN), transcript variant 1, mRNA.
ACCESSION   NM_024593
VERSION     NM_024593.4
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 2104)
  AUTHORS   Hjeij,R., Aprea,I., Poeta,M., Nothe-Menchen,T., Bracht,D.,
            Raidt,J., Honecker,B.I., Dougherty,G.W., Olbrich,H., Schwartz,O.,
            Keller,U., Nusse,H., Diderich,K.E.M., Vogelberg,C., Santamaria,F.
            and Omran,H.
  TITLE     Pathogenic variants in CLXN encoding the outer dynein arm
            docking-associated calcium-binding protein calaxin cause primary
            ciliary dyskinesia
  JOURNAL   Genet Med 25 (5), 100798 (2023)
   PUBMED   36727596
  REMARK    GeneRIF: Pathogenic variants in CLXN encoding the outer dynein arm
            docking-associated calcium-binding protein calaxin cause primary
            ciliary dyskinesia.
REFERENCE   2  (bases 1 to 2104)
  AUTHORS   Gui,M., Farley,H., Anujan,P., Anderson,J.R., Maxwell,D.W.,
            Whitchurch,J.B., Botsch,J.J., Qiu,T., Meleppattu,S., Singh,S.K.,
            Zhang,Q., Thompson,J., Lucas,J.S., Bingle,C.D., Norris,D.P., Roy,S.
            and Brown,A.
  TITLE     De novo identification of mammalian ciliary motility proteins using
            cryo-EM
  JOURNAL   Cell 184 (23), 5791-5806 (2021)
   PUBMED   34715025
REFERENCE   3  (bases 1 to 2104)
  AUTHORS   Pineau,C., Hikmet,F., Zhang,C., Oksvold,P., Chen,S., Fagerberg,L.,
            Uhlen,M. and Lindskog,C.
  TITLE     Cell Type-Specific Expression of Testis Elevated Genes Based on
            Transcriptomics and Antibody-Based Proteomics
  JOURNAL   J Proteome Res 18 (12), 4215-4230 (2019)
   PUBMED   31429579
REFERENCE   4  (bases 1 to 2104)
  AUTHORS   Sasaki,K., Shiba,K., Nakamura,A., Kawano,N., Satouh,Y.,
            Yamaguchi,H., Morikawa,M., Shibata,D., Yanase,R., Jokura,K.,
            Nomura,M., Miyado,M., Takada,S., Ueno,H., Nonaka,S., Baba,T.,
            Ikawa,M., Kikkawa,M., Miyado,K. and Inaba,K.
  TITLE     Calaxin is required for cilia-driven determination of vertebrate
            laterality
  JOURNAL   Commun Biol 2, 226 (2019)
   PUBMED   31240264
  REMARK    Erratum:[Commun Biol. 2019 Jul 4;2:254. doi:
            10.1038/s42003-019-0512-5.. PMID: 31286071]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2104)
  AUTHORS   Aouizerat,B.E., Vittinghoff,E., Musone,S.L., Pawlikowska,L.,
            Kwok,P.Y., Olgin,J.E. and Tseng,Z.H.
  TITLE     GWAS for discovery and replication of genetic loci associated with
            sudden cardiac arrest in patients with coronary artery disease
  JOURNAL   BMC Cardiovasc Disord 11, 29 (2011)
   PUBMED   21658281
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2104)
  AUTHORS   Takeuchi,F., Isono,M., Katsuya,T., Yamamoto,K., Yokota,M.,
            Sugiyama,T., Nabika,T., Fujioka,A., Ohnaka,K., Asano,H., Yamori,Y.,
            Yamaguchi,S., Kobayashi,S., Takayanagi,R., Ogihara,T. and Kato,N.
  TITLE     Blood pressure and hypertension are associated with 7 loci in the
            Japanese population
  JOURNAL   Circulation 121 (21), 2302-2309 (2010)
   PUBMED   20479155
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB204697.1, BC025676.1, CB250588.1, DB536362.1 and AC022915.14.
            
            On Nov 23, 2018 this sequence version replaced NM_024593.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC025676.1, AK021829.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262103.8/ ENSP00000262103.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                DB204697.1         44-79
            37-1582             BC025676.1         1-1546
            1583-2091           CB250588.1         2-510               c
            2092-2101           DB536362.1         456-465
            2102-2104           AC022915.14        127012-127014       c
FEATURES             Location/Qualifiers
     source          1..2104
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.21"
     gene            1..2104
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /note="calaxin"
                     /db_xref="GeneID:79645"
                     /db_xref="HGNC:HGNC:25678"
                     /db_xref="MIM:619564"
     exon            1..175
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             118..753
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /note="isoform a is encoded by transcript variant 1;
                     EF-hand calcium-binding domain-containing protein 1;
                     EF-hand calcium binding domain 1; outer dynein arm docking
                     complex subunit 5"
                     /codon_start=1
                     /product="calaxin isoform a"
                     /protein_id="NP_078869.1"
                     /db_xref="CCDS:CCDS6145.1"
                     /db_xref="GeneID:79645"
                     /db_xref="HGNC:HGNC:25678"
                     /db_xref="MIM:619564"
                     /translation="MNRKKLQKLTDTLTKNCKHFNKFEVNCLIKLFYDLVGGVERQGL
                     VVGLDRNAFRNILHVTFGMTDDMIMDRVFRGFDKDNDGCVNVLEWIHGLSLFLRGSLE
                     EKMKYCFEVFDLNGDGFISKEEMFHMLKNSLLKQPSEEDPDEGIKDLVEITLKKMDHD
                     HDGKLSFADYELAVREETLLLEAFGPCLPDPKSQMEFEAQVFKDPNEFNDM"
     exon            176..331
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /inference="alignment:Splign:2.1.0"
     exon            332..436
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /inference="alignment:Splign:2.1.0"
     exon            437..588
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /inference="alignment:Splign:2.1.0"
     exon            589..693
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /inference="alignment:Splign:2.1.0"
     exon            694..2104
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      783..788
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /note="hexamer: AGTAAA"
     polyA_site      802
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /note="major polyA site"
     regulatory      1082..1087
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /note="hexamer: AATACA"
     polyA_site      1110
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
     regulatory      2050..2055
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /note="hexamer: AATAAA"
     polyA_site      2068
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
     regulatory      2081..2086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
                     /note="hexamer: AAGAAA"
     polyA_site      2104
                     /gene="CLXN"
                     /gene_synonym="CILD53; EFCAB1; ODAD5"
ORIGIN      
        1 agtaactgag acctcaccgc gttgacccag caccagggct cgcgggggtc ccgcgagggt
       61 ctcggtagcc gcgcgcccag agacccccgc cgcggcccga ttctctgagc gccagacatg
      121 aaccgcaaga aactgcagaa gctgacggac accttaacca aaaattgcaa gcattttaat
      181 aaatttgaag tgaactgtct tataaagctt ttttatgact tggtgggagg agtagagagg
      241 caaggtctgg ttgttggact ggatcgtaat gcatttcgaa acatcctgca tgtgacattt
      301 ggaatgacag atgacatgat tatggacaga gtattccgag gttttgataa agataatgat
      361 ggctgtgtaa atgtattgga gtggattcat ggattatcac tgtttcttcg aggatctttg
      421 gaagaaaaaa tgaaatattg ctttgaagtg tttgatttga atggtgacgg attcatttca
      481 aaggaggaaa tgtttcacat gttgaagaac agccttctca aacagccatc tgaggaagac
      541 cctgatgaag gaattaaaga tttggttgaa ataacactga agaaaatgga tcatgaccat
      601 gatgggaagc tgtcttttgc agactatgaa ctggctgtga gagaagagac tcttctactg
      661 gaggcctttg ggccatgtct tcctgatcca aagagccaga tggaatttga agctcaagta
      721 ttcaaagatc caaatgaatt caatgatatg tgaataacta aatgtctata ttgtctcaag
      781 tgagtaaaaa aggaggcaca cacatattgc ttattttttc tacttagttc agaaaaatga
      841 tgttgaattg tgtgtttcag ggtgaagatg aggttcactt acatatatca tttaacatca
      901 gtgtaagatg caattaaaat agatggaaga caagaagtcc cttattagat gatgggtttg
      961 gcaagacagt taacttttct acagatgttt tatcacatag actatctgtc gaagcacata
     1021 actggcataa aacctttggg ttcattaaat gaatagagag attacataat tatgaattgt
     1081 taatacaaat attctgcatg tcaaaaagaa gctgggtgta cactgaaaaa tcattgaaac
     1141 tactggattt cctttgaaac aaataatgaa gatggcatca aaagaataag agtattctat
     1201 tgagcattga aacgcctttc tggtaggcat tgagggagat ctagagagat gaaagataca
     1261 tggaaatcat attatattga aatataatat gatttgcatt attgtttgag gctttggcta
     1321 aataacgtta ctgattgtaa gcacctgaag gcaagggttt tatccaccac atctttgtct
     1381 gccatagcat ttagtcctct gcatacaatg ggctgtccat aattactgta gattggactg
     1441 aaaatcaaaa agtaccacaa gataaatgca aactcttggt gagcagaggg agaacatgta
     1501 ctgagtttct taggtttcat ggctaatgca ttggcacagc tttcagtgta tccctgcagt
     1561 ccttccagat agtccctgcc ccatgcattg cagatggttg ccaaagcccc cctctgtcct
     1621 ggcacccagt gttcctccat cctgactcca cgtattgccc ccttgccact gcctgagtgc
     1681 accatagtgt ccccatcccc ccactgcctg gagttcccct tgtgtacccc cttatcaggg
     1741 cacgacctaa ctgtgccctg ctggctgtga cctcctgaag acagacctgg cttctccctg
     1801 catccagttc cccagtatgt gctgtgggca tcctgagaag cctgaaaaag acagggccag
     1861 gttaggcttg ggtgagctgc tttctgcctt cttggtacac acagtaagca gtggagaggc
     1921 gtgttacacc gtatctgttc tatcctcatc taaatactga gaggctagtt gggatagtaa
     1981 atctttctta ctacatatgc attaagttta agtaaaatag aatattgtgt gaaaaaatgc
     2041 actgttacta ataaatggaa taaacagatc catgaaataa aagaaaacat attttactgt
     2101 ccaa
//
