LOCUS       NM_053054               2581 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens cation channel sperm associated 1 (CATSPER1), mRNA.
ACCESSION   NM_053054
VERSION     NM_053054.4
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 2581)
  AUTHORS   Liang,M., Ji,N., Song,J., Kang,H. and Zeng,X.
  TITLE     Flagellar pH homeostasis mediated by Na+/H+ exchangers regulates
            human sperm functions through coupling with CatSper and KSper
            activation
  JOURNAL   Hum Reprod 39 (4), 674-688 (2024)
   PUBMED   38366201
  REMARK    GeneRIF: Flagellar pH homeostasis mediated by Na+/H+ exchangers
            regulates human sperm functions through coupling with CatSper and
            KSper activation.
REFERENCE   2  (bases 1 to 2581)
  AUTHORS   Zhang,X., Liang,M., Song,D., Huang,R., Chen,C., Liu,X., Chen,H.,
            Wang,Q., Sun,X., Song,J., Zhang,J., Kang,H. and Zeng,X.
  TITLE     Both protein and non-protein components in extracellular vesicles
            of human seminal plasma improve human sperm function via
            CatSper-mediated calcium signaling
  JOURNAL   Hum Reprod 39 (4), 658-673 (2024)
   PUBMED   38335261
  REMARK    GeneRIF: Both protein and non-protein components in extracellular
            vesicles of human seminal plasma improve human sperm function via
            CatSper-mediated calcium signaling.
REFERENCE   3  (bases 1 to 2581)
  AUTHORS   Manfrevola,F., Ferraro,B., Sellitto,C., Rocco,D., Fasano,S.,
            Pierantoni,R. and Chianese,R.
  TITLE     CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic
            Semen
  JOURNAL   Cells 10 (8), 1956 (2021)
   PUBMED   34440724
  REMARK    GeneRIF: CRISP2, CATSPER1 and PATE1 Expression in Human
            Asthenozoospermic Semen.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2581)
  AUTHORS   Jin,Z.R., Fang,D., Liu,B.H., Cai,J., Tang,W.H., Jiang,H. and
            Xing,G.G.
  TITLE     Roles of CatSper channels in the pathogenesis of asthenozoospermia
            and the therapeutic effects of acupuncture-like treatment on
            asthenozoospermia
  JOURNAL   Theranostics 11 (6), 2822-2844 (2021)
   PUBMED   33456575
  REMARK    GeneRIF: Roles of CatSper channels in the pathogenesis of
            asthenozoospermia and the therapeutic effects of acupuncture-like
            treatment on asthenozoospermia.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2581)
  AUTHORS   Rahban,R. and Nef,S.
  TITLE     CatSper: The complex main gate of calcium entry in mammalian
            spermatozoa
  JOURNAL   Mol Cell Endocrinol 518, 110951 (2020)
   PUBMED   32712386
  REMARK    GeneRIF: CatSper: The complex main gate of calcium entry in
            mammalian spermatozoa.
            Review article
REFERENCE   6  (bases 1 to 2581)
  AUTHORS   Quill,T.A., Ren,D., Clapham,D.E. and Garbers,D.L.
  TITLE     A voltage-gated ion channel expressed specifically in spermatozoa
  JOURNAL   Proc Natl Acad Sci U S A 98 (22), 12527-12531 (2001)
   PUBMED   11675491
REFERENCE   7  (bases 1 to 2581)
  AUTHORS   Ren,D., Navarro,B., Perez,G., Jackson,A.C., Hsu,S., Shi,Q.,
            Tilly,J.L. and Clapham,D.E.
  TITLE     A sperm ion channel required for sperm motility and male fertility
  JOURNAL   Nature 413 (6856), 603-609 (2001)
   PUBMED   11595941
REFERENCE   8  (bases 1 to 2581)
  AUTHORS   Garbers,D.L.
  TITLE     Ion channels. Swimming with sperm
  JOURNAL   Nature 413 (6856), 579 (2001)
   PUBMED   11595929
REFERENCE   9  (bases 1 to 2581)
  AUTHORS   Hildebrand,M.S., Avenarius,M.R. and Smith,R.J.H.
  TITLE     CATSPER-Related Male Infertility - 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   20301780
REFERENCE   10 (bases 1 to 2581)
  AUTHORS   Santiago,J.V.
  TITLE     Overview of the complications of diabetes
  JOURNAL   Clin Chem 32 (10 Suppl), B48-B53 (1986)
   PUBMED   3530540
  REMARK    GeneRIF: Overview of the complications of diabetes.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032950.2, BC036522.2,
            AF407333.1 and AP006287.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_053054.3.
            
            Summary: Calcium ions play a primary role in the regulation of
            sperm motility. This gene belongs to a family of putative cation
            channels that are specific to spermatozoa and localize to the
            flagellum. The protein family features a single repeat with six
            membrane-spanning segments and a predicted calcium-selective pore
            region. [provided by RefSeq, Jul 2008].
            
            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 :: BC036522.2, AF407333.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312106.6/ ENSP00000309052.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BC032950.2         39-46
            9-429               BC036522.2         9-429
            430-1321            AF407333.1         330-1221
            1322-2053           BC032950.2         1359-2090
            2054-2054           AP006287.2         135852-135852       c
            2055-2581           BC032950.2         2092-2618
FEATURES             Location/Qualifiers
     source          1..2581
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2581
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /note="cation channel sperm associated 1"
                     /db_xref="GeneID:117144"
                     /db_xref="HGNC:HGNC:17116"
                     /db_xref="MIM:606389"
     exon            1..1316
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..2443
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /note="sperm ion channel; sperm-associated cation channel
                     1; hCatSper"
                     /codon_start=1
                     /product="cation channel sperm-associated protein 1"
                     /protein_id="NP_444282.3"
                     /db_xref="CCDS:CCDS8127.1"
                     /db_xref="GeneID:117144"
                     /db_xref="HGNC:HGNC:17116"
                     /db_xref="MIM:606389"
                     /translation="MDQNSVPEKAQNEADTNNADRFFRSHSSPPHHRPGHSRALHHYE
                     LHHHGVPHQRGESHHPPEFQDFHDQALSSHVHQSHHHSEARNHGRAHGPTGFGLAPSQ
                     GAVPSHRSYGEDYHDELQRDGRRHHDGSQYGGFHQQSDSHYHRGSHHGRPQYLGENLS
                     HYSSGVPHHGEASHHGGSYLPHGPNPYSESFHHSEASHLSGLQHDESQHHQVPHRGWP
                     HHHQVHHHGRSRHHEAHQHGKSPHHGETISPHSSVGSYQRGISDYHSEYHQGDHHPSE
                     YHHGDHPHHTQHHYHQTHRHRDYHQHQDHHGAYHSSYLHGDYVQSTSQLSIPHTSRSL
                     IHDAPGPAASRTGVFPYHVAHPRGSAHSMTRSSSTIRSRVTQMSKKVHTQDISTKHSE
                     DWGKEEGQFQKRKTGRLQRTRKKGHSTNLFQWLWEKLTFLIQGFREMIRNLTQSLAFE
                     TFIFFVVCLNTVMLVAQTFAEVEIRGEWYFMALDSIFFCIYVVEALLKIIALGLSYFF
                     DFWNNLDFFIMAMAVLDFLLMQTHSFAIYHQSLFRILKVFKSLRALRAIRVLRRLSFL
                     TSVQEVTGTLGQSLPSIAAILILMFTCLFLFSAVLRALFRKSDPKRFQNIFTTIFTLF
                     TLLTLDDWSLIYMDSRAQGAWYIIPILVIYIIIQYFIFLNLVITVLVDSFQTALFKGL
                     EKAKQERAARIQEKLLEDSLTELRAAEPKEVASEGTMLKRLIEKKFGTMTEKQQELLF
                     HYLQLVASVEQEQQKFRSQAAVIDEIVDTTFEAGEEDFRN"
     exon            1317..1529
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1643
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            1644..1791
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1883
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            1884..2027
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            2028..2091
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2164
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            2165..2225
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            2226..2301
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            2302..2416
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     exon            2417..2581
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2581
                     /gene="CATSPER1"
                     /gene_synonym="CATSPER; SPGF7"
                     /note="major polyA site"
ORIGIN      
        1 agtctgcatt gagcttggct caggaaagaa gggaaatcca ggcggggcct gttgggccca
       61 ggtcttgagc tcttttggct ccagagttcc cagcacagtc atggatcaaa actcagtgcc
      121 tgaaaaggct cagaatgagg cagacaccaa taacgcagat aggttctttc gctctcactc
      181 atcaccccca caccacaggc caggccacag cagagctctc caccattacg agttgcacca
      241 tcacggcgtg ccccaccaac gtggtgaatc tcaccaccct ccggagttcc aagacttcca
      301 cgaccaagcc ttgtcctccc atgtccacca atctcaccac cacagcgagg cacggaatca
      361 cggcagagcc catggcccca caggctttgg tctggctccc tctcaaggcg ccgtcccctc
      421 ccaccgttcc tacggtgagg actaccatga tgagctccaa cgtgatggca ggaggcatca
      481 tgatgggtcc caatacggtg ggttccatca gcagagtgac tcccattacc atagggggtc
      541 tcaccatggc agaccccaat atctcggtga gaatttatcc cactattcct ctggcgtgcc
      601 ccaccacggt gaggcttccc accatggtgg gtcctacctc ccccatggac ccaatcccta
      661 cagtgagtcc ttccaccaca gcgaggcttc ccaccttagc gggctccaac acgatgagtc
      721 ccagcatcac caagtccccc accgtggctg gccccaccat caccaagtcc accaccatgg
      781 caggtcccgt catcatgaag cccaccagca tggaaagtct cctcatcacg gagagaccat
      841 ttcccctcat tcctctgtgg ggtcctacca gcgtgggata tctgactatc acagcgagta
      901 ccaccaaggt gatcaccacc ccagtgagta ccaccatggc gaccatcccc accacacaca
      961 gcaccactac caccagaccc accggcaccg agactaccat cagcaccaag accaccacgg
     1021 cgcgtatcat tccagttacc tccatggcga ctacgtccag agcacttccc aactctctat
     1081 cccacacaca tcccggagcc tgattcacga tgcccccggc cctgctgctt ctcgtacagg
     1141 agtcttcccc tatcacgtag cacacccacg gggctcggct cacagcatga ctcggtcctc
     1201 cagcacaatc cgctcacgtg tcacccagat gtccaaaaaa gtccataccc aggatatctc
     1261 caccaaacat tcagaagact ggggcaaaga agaagggcaa tttcagaaac gcaaaaccgg
     1321 ccggctccag cggacccgca agaagggaca ctctaccaat ctcttccagt ggctgtggga
     1381 aaagctaacc ttcctcattc agggcttccg ggaaatgatc cggaacctga cccaatcctt
     1441 ggcctttgaa actttcatct tcttcgttgt ctgcctcaac accgtcatgc tggtggccca
     1501 gaccttcgct gaagtcgaga tccggggcga gtggtacttc atggccttgg actccatatt
     1561 cttctgcatc tacgtggtgg aagccctgct caagatcatc gccctgggcc tctcgtactt
     1621 ctttgacttc tggaacaatt tggacttctt cattatggcc atggccgtgc tggacttctt
     1681 gctgatgcag acccactcct tcgccatcta ccaccaaagc ctcttccgga tcctcaaggt
     1741 cttcaagagc ctgcgggccc tgagggcaat ccgggtcctg cggaggctca gcttcctgac
     1801 cagcgtccag gaagtgacag ggaccctggg ccagtccttg ccgtccatcg cagccatcct
     1861 catcctcatg tttacctgcc tcttcctctt ctccgcggtc ctccgggcac tgttccgcaa
     1921 atctgacccc aagcgcttcc agaacatctt caccaccatc ttcaccctct tcaccttgct
     1981 cacgctggat gactggtccc tcatctacat ggacagccgt gcccagggcg cctggtacat
     2041 cattcccatc ctcgtaattt acatcatcat ccagtacttc atcttcctca acctggtgat
     2101 tactgtcctg gtggatagct tccagacggc gctgttcaaa ggccttgaga aagcgaagca
     2161 ggagagggcc gcccggatcc aagagaagct gctggaagac tcactgacgg agctcagagc
     2221 tgcagagccc aaagaggtgg cgagtgaagg caccatgctg aagcggctca tcgagaaaaa
     2281 gtttgggacc atgactgaga agcagcagga gctcctgttc cattacctgc agctggtggc
     2341 aagcgtggag caggagcagc agaagttccg ctcccaggca gccgtcatcg atgagattgt
     2401 ggacaccaca tttgaggctg gagaagagga cttcaggaat tgaccccagg aggacaccag
     2461 atacagactt cagcccctgg cagtctgccc acctgggtgc actgggacgg gtccccagat
     2521 ctgctggaat gattgtccgg gccctgcaga gcaggggccc caacagagtt tttaaacccc
     2581 a
//
