LOCUS       NM_178019               1355 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens cation channel sperm associated 3 (CATSPER3), mRNA.
ACCESSION   NM_178019
VERSION     NM_178019.3
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 1355)
  AUTHORS   He,M., Xu,M., Zhang,B., Liang,J., Chen,P., Lee,J.Y., Johnson,T.A.,
            Li,H., Yang,X., Dai,J., Liang,L., Gui,L., Qi,Q., Huang,J., Li,Y.,
            Adair,L.S., Aung,T., Cai,Q., Cheng,C.Y., Cho,M.C., Cho,Y.S.,
            Chu,M., Cui,B., Gao,Y.T., Go,M.J., Gu,D., Gu,W., Guo,H., Hao,Y.,
            Hong,J., Hu,Z., Hu,Y., Huang,J., Hwang,J.Y., Ikram,M.K., Jin,G.,
            Kang,D.H., Khor,C.C., Kim,B.J., Kim,H.T., Kubo,M., Lee,J., Lee,J.,
            Lee,N.R., Li,R., Li,J., Liu,J., Longe,J., Lu,W., Lu,X., Miao,X.,
            Okada,Y., Ong,R.T., Qiu,G., Seielstad,M., Sim,X., Song,H.,
            Takeuchi,F., Tanaka,T., Taylor,P.R., Wang,L., Wang,W., Wang,Y.,
            Wu,C., Wu,Y., Xiang,Y.B., Yamamoto,K., Yang,H., Liao,M., Yokota,M.,
            Young,T., Zhang,X., Kato,N., Wang,Q.K., Zheng,W., Hu,F.B., Lin,D.,
            Shen,H., Teo,Y.Y., Mo,Z., Wong,T.Y., Lin,X., Mohlke,K.L., Ning,G.,
            Tsunoda,T., Han,B.G., Shu,X.O., Tai,E.S., Wu,T. and Qi,L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   2  (bases 1 to 1355)
  AUTHORS   Wade,T.D., Gordon,S., Medland,S., Bulik,C.M., Heath,A.C.,
            Montgomery,G.W. and Martin,N.G.
  TITLE     Genetic variants associated with disordered eating
  JOURNAL   Int J Eat Disord 46 (6), 594-608 (2013)
   PUBMED   23568457
REFERENCE   3  (bases 1 to 1355)
  AUTHORS   Ruark,E., Seal,S., McDonald,H., Zhang,F., Elliot,A., Lau,K.,
            Perdeaux,E., Rapley,E., Eeles,R., Peto,J., Kote-Jarai,Z., Muir,K.,
            Nsengimana,J., Shipley,J., Bishop,D.T., Stratton,M.R., Easton,D.F.,
            Huddart,R.A., Rahman,N. and Turnbull,C.
  CONSRTM   UK Testicular Cancer Collaboration (UKTCC)
  TITLE     Identification of nine new susceptibility loci for testicular
            cancer, including variants near DAZL and PRDM14
  JOURNAL   Nat Genet 45 (6), 686-689 (2013)
   PUBMED   23666240
REFERENCE   4  (bases 1 to 1355)
  AUTHORS   Jia,W.H., Zhang,B., Matsuo,K., Shin,A., Xiang,Y.B., Jee,S.H.,
            Kim,D.H., Ren,Z., Cai,Q., Long,J., Shi,J., Wen,W., Yang,G.,
            Delahanty,R.J., Ji,B.T., Pan,Z.Z., Matsuda,F., Gao,Y.T., Oh,J.H.,
            Ahn,Y.O., Park,E.J., Li,H.L., Park,J.W., Jo,J., Jeong,J.Y.,
            Hosono,S., Casey,G., Peters,U., Shu,X.O., Zeng,Y.X. and Zheng,W.
  CONSRTM   Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO);
            Colon Cancer Family Registry (CCFR)
  TITLE     Genome-wide association analyses in East Asians identify new
            susceptibility loci for colorectal cancer
  JOURNAL   Nat Genet 45 (2), 191-196 (2013)
   PUBMED   23263487
REFERENCE   5  (bases 1 to 1355)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   6  (bases 1 to 1355)
  AUTHORS   Qi,H., Moran,M.M., Navarro,B., Chong,J.A., Krapivinsky,G.,
            Krapivinsky,L., Kirichok,Y., Ramsey,I.S., Quill,T.A. and
            Clapham,D.E.
  TITLE     All four CatSper ion channel proteins are required for male
            fertility and sperm cell hyperactivated motility
  JOURNAL   Proc Natl Acad Sci U S A 104 (4), 1219-1223 (2007)
   PUBMED   17227845
REFERENCE   7  (bases 1 to 1355)
  AUTHORS   Clapham,D.E. and Garbers,D.L.
  TITLE     International Union of Pharmacology. L. Nomenclature and
            structure-function relationships of CatSper and two-pore channels
  JOURNAL   Pharmacol Rev 57 (4), 451-454 (2005)
   PUBMED   16382101
  REMARK    Review article
REFERENCE   8  (bases 1 to 1355)
  AUTHORS   Lobley,A., Pierron,V., Reynolds,L., Allen,L. and Michalovich,D.
  TITLE     Identification of human and mouse CatSper3 and CatSper4 genes:
            characterisation of a common interaction domain and evidence for
            expression in testis
  JOURNAL   Reprod Biol Endocrinol 1, 53 (2003)
   PUBMED   12932298
  REMARK    GeneRIF: Catsper3 has a single channel-forming domain, a pore-loop
            with the consensus sequence TxDxW, & a coiled-coil protein-protein
            interaction domain in the C-terminal tail. CatSpers 1,2,3 & 4 may
            interact directly or indirectly to form a functional tetramer.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1355)
  AUTHORS   Arias,J.M., Murbartian,J. and Perez-Reyes,E.
  TITLE     Cloning of a novel one-repeat calcium channel-like gene
  JOURNAL   Biochem Biophys Res Commun 303 (1), 31-36 (2003)
   PUBMED   12646162
  REMARK    GeneRIF: PMID: 12646162 concludes Alu repeats interfere with
            splicing of DCOHM and CAVL such that transcripts containing exons
            of both genes exist.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI827754.1, BC101692.1 and AW008956.1.
            
            On Nov 23, 2018 this sequence version replaced NM_178019.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.17294.1, BC110384.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282611.8/ ENSP00000282611.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-685               BI827754.1         2-686
            686-1318            BC101692.1         647-1279
            1319-1355           AW008956.1         13-49               c
FEATURES             Location/Qualifiers
     source          1..1355
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..1355
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /note="cation channel sperm associated 3"
                     /db_xref="GeneID:347732"
                     /db_xref="HGNC:HGNC:20819"
                     /db_xref="MIM:609120"
     exon            1..183
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1282
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /note="calcium channel repeat containing 1; putative ion
                     channel CatSper3; ca(v)-like protein; one-repeat calcium
                     channel-like protein"
                     /codon_start=1
                     /product="cation channel sperm-associated protein 3"
                     /protein_id="NP_821138.1"
                     /db_xref="CCDS:CCDS4181.1"
                     /db_xref="GeneID:347732"
                     /db_xref="HGNC:HGNC:20819"
                     /db_xref="MIM:609120"
                     /translation="MSQHRHQRHSRVISSSPVDTTSVGFCPTFKKFKRNDDECRAFVK
                     RVIMSRFFKIIMISTVTSNAFFMALWTSYDIRYRLFRLLEFSEIFFVSICTSELSMKV
                     YVDPINYWKNGYNLLDVIIIIVMFLPYALRQLMGKQFTYLYIADGMQSLRILKLIGYS
                     QGIRTLITAVGQTVYTVASVLLLLFLLMYIFAILGFCLFGSPDNGDHDNWGNLAAAFF
                     TLFSLATVDGWTDLQKQLDNREFALSRAFTIIFILLASFIFLNMFVGVMIMHTEDSIR
                     KFERELMLEQQEMLMGEKQVILQRQQEEISRLMHIQKNADCTSFSELVENFKKTLSHT
                     DPMVLDDFGTSLPFIDIYFSTLDYQDTTVHKLQELYYEIVHVLSLMLEDLPQEKPQSL
                     EKVDEK"
     exon            184..337
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /inference="alignment:Splign:2.1.0"
     exon            338..577
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /inference="alignment:Splign:2.1.0"
     exon            578..760
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /inference="alignment:Splign:2.1.0"
     exon            761..901
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1021
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1179
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1355
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1336..1341
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /note="hexamer: ATTAAA"
     polyA_site      1355
                     /gene="CATSPER3"
                     /gene_synonym="CACRC"
                     /note="major polyA site"
ORIGIN      
        1 agaatccaga cgctaaggaa aatccctaag cagagatttt ctgttggatg ctaaaagcaa
       61 ggaataaaag ttgaaaattt ggaaaatgtc tcaacaccgt caccagcgcc actcgagagt
      121 catttctagt tcaccagttg acactacatc ggtgggattt tgcccaacat tcaagaaatt
      181 taagaggaac gatgatgaat gtcgggcatt tgtgaagaga gtcataatga gccgtttctt
      241 taagataatt atgattagca ctgtcacatc gaatgcgttt tttatggcct tgtggaccag
      301 ttatgacata aggtaccgct tgttcagact tcttgagttc tcggagatct tctttgtgtc
      361 catctgcaca tctgagttgt ccatgaaggt ctatgtggac cccatcaact actggaagaa
      421 cggctacaac ctgctggatg tgatcattat catcgttatg tttttaccct atgccctccg
      481 ccagctcatg ggcaaacagt tcacttacct gtatatcgct gatggcatgc agtccctgcg
      541 catcctcaag cttatcggct atagccaggg catccggacg ctgatcaccg ccgtggggca
      601 gacagtctac accgtggcct ctgtgctcct cctgctcttc ctcctcatgt acatcttcgc
      661 tatcttgggc ttctgcctgt ttggatctcc agacaatggt gaccatgata actgggggaa
      721 cctggctgca gcttttttca ccctcttcag cttggccacg gttgatggct ggacagacct
      781 gcagaagcag ttggacaatc gggaatttgc tttgagccgg gcattcacca tcatcttcat
      841 cttgctcgcc tctttcatct tcctcaacat gttcgtgggt gtgatgatca tgcacacaga
      901 ggactccatc agaaagtttg agcgagagct gatgttggag cagcaggaga tgctcatggg
      961 agagaagcag gtgattctgc agcggcagca ggaggagatc agcaggctga tgcacataca
     1021 gaaaaatgct gactgcacaa gtttcagtga gctggtggag aactttaaga agaccttgag
     1081 ccacactgac ccaatggtct tggatgattt tggcactagc ttacccttca tcgatatcta
     1141 cttttccact ctggactacc aggacacaac tgtccacaag cttcaagagc tgtactatga
     1201 gatcgtgcat gtgctgagcc taatgctgga agacttgccc caggagaagc cccagtcctt
     1261 ggaaaaggtg gatgagaagt agctgggcat ggggcaccca tgtgccgaga gccttgcaga
     1321 ccatgacagg tccctattaa acacaggctt tctga
//
