LOCUS       NM_033123               2105 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens phospholipase C zeta 1 (PLCZ1), transcript variant 1,
            mRNA.
ACCESSION   NM_033123
VERSION     NM_033123.4
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 2105)
  AUTHORS   Tong,K.Y., Liu,W.W., Sun,L.W., Liu,D.Y., Xiang,Y.Z., Li,C.,
            Chai,L.W., Chen,K., Huang,G.N. and Li,J.Y.
  TITLE     Novel PLCZ1 mutation caused polyspermy during in vitro
            fertilization
  JOURNAL   Asian J Androl 26 (4), 389-395 (2024)
   PUBMED   38445955
  REMARK    GeneRIF: Novel PLCZ1 mutation caused polyspermy during in vitro
            fertilization.
REFERENCE   2  (bases 1 to 2105)
  AUTHORS   Parrella,A., Medrano,L., Aizpurua,J. and Gomez-Torres,M.J.
  TITLE     Phospholipase C Zeta in Human Spermatozoa: A Systematic Review on
            Current Development and Clinical Application
  JOURNAL   Int J Mol Sci 25 (2), 1344 (2024)
   PUBMED   38279344
  REMARK    GeneRIF: Phospholipase C Zeta in Human Spermatozoa: A Systematic
            Review on Current Development and Clinical Application.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2105)
  AUTHORS   Zhao,S., Cui,Y., Guo,S., Liu,B., Bian,Y., Zhao,S., Chen,Z. and
            Zhao,H.
  TITLE     Novel variants in ACTL7A and PLCZ1 are associated with male
            infertility and total fertilization failure
  JOURNAL   Clin Genet 103 (5), 603-608 (2023)
   PUBMED   36593593
  REMARK    GeneRIF: Novel variants in ACTL7A and PLCZ1 are associated with
            male infertility and total fertilization failure.
REFERENCE   4  (bases 1 to 2105)
  AUTHORS   Meng,X., Jones,C., Melo,P., Ross,C., Mounce,G., Child,T. and
            Coward,K.
  TITLE     Antigen unmasking does not improve the visualization of
            phospholipase C zeta in human spermatozoa
  JOURNAL   Asian J Androl 24 (4), 345-352 (2022)
   PUBMED   34893574
  REMARK    GeneRIF: Antigen unmasking does not improve the visualization of
            phospholipase C zeta in human spermatozoa.
REFERENCE   5  (bases 1 to 2105)
  AUTHORS   Bi,Y., Xu,W.M., Wong,H.Y., Zhu,H., Zhou,Z.M., Chan,H.C. and
            Sha,J.H.
  TITLE     NYD-SP27, a novel intrinsic decapacitation factor in sperm
  JOURNAL   Asian J Androl 11 (2), 229-239 (2009)
   PUBMED   19252507
REFERENCE   6  (bases 1 to 2105)
  AUTHORS   Yu,Y., Saunders,C.M., Lai,F.A. and Swann,K.
  TITLE     Preimplantation development of mouse oocytes activated by different
            levels of human phospholipase C zeta
  JOURNAL   Hum Reprod 23 (2), 365-373 (2008)
   PUBMED   18003622
  REMARK    GeneRIF: Human PLCzeta can readily activate mouse oocytes, however,
            effective development to blastocyst stages is only achieved within
            a specific window of hPLCzeta-luc protein expression levels.
REFERENCE   7  (bases 1 to 2105)
  AUTHORS   Yoshida,N., Amanai,M., Fukui,T., Kajikawa,E., Brahmajosyula,M.,
            Iwahori,A., Nakano,Y., Shoji,S., Diebold,J., Hessel,H., Huss,R. and
            Perry,A.C.
  TITLE     Broad, ectopic expression of the sperm protein PLCZ1 induces
            parthenogenesis and ovarian tumours in mice
  JOURNAL   Development 134 (21), 3941-3952 (2007)
   PUBMED   17933795
  REMARK    GeneRIF: narrow spectrum of PLCZ1 activity indicates that it is
            modulated by tissue-restricted accessory factors
REFERENCE   8  (bases 1 to 2105)
  AUTHORS   Zhu,J.X., Yang,N., Zhu,H., Chung,Y.W. and Chan,H.C.
  TITLE     Effect of NYD-SP27 down-regulation on ATP-induced Ca2+-dependent
            pancreatic duct anion secretion in cystic fibrosis cells
  JOURNAL   Cell Biol Int 31 (5), 521-525 (2007)
   PUBMED   17196844
  REMARK    GeneRIF: confirm the previously proposed inhibitory role of
            NYD-SP27 in the PLC pathway and demonstrate that the suppression of
            its expression could result in an enhancement of ATP-stimulated
            Ca(2+) dependent pancreatic anion secretion.
REFERENCE   9  (bases 1 to 2105)
  AUTHORS   Zhu,H., Zhu,J.X., Lo,P.S., Li,J., Leung,K.M., Rowlands,D.K.,
            Tsang,L.L., Yu,M.K., Jiang,J.L., Lam,S.Y., Chung,Y.W., Zhou,Z.,
            Sha,J. and Chang Chan,H.
  TITLE     Rescue of defective pancreatic secretion in cystic-fibrosis cells
            by suppression of a novel isoform of phospholipase C
  JOURNAL   Lancet 362 (9401), 2059-2065 (2003)
   PUBMED   14697805
REFERENCE   10 (bases 1 to 2105)
  AUTHORS   Cox,L.J., Larman,M.G., Saunders,C.M., Hashimoto,K., Swann,K. and
            Lai,F.A.
  TITLE     Sperm phospholipase Czeta from humans and cynomolgus monkeys
            triggers Ca2+ oscillations, activation and development of mouse
            oocytes
  JOURNAL   Reproduction 124 (5), 611-623 (2002)
   PUBMED   12416999
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB038101.1, AF532185.1 and
            HY197954.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_033123.3.
            
            Summary: The protein encoded by this gene is a member of the
            phosphoinositide-specific phospholipase C family. Members in this
            family, classified into six isotypes that are tissue- and
            organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate
            just before the phosphate group to yield diacylglycerol and
            inositol 1,4,5-trisphosphate. This protein localizes to the
            acrosome in spermatozoa and elicits Ca(2+) oscillations and egg
            activation during fertilization that leads to early embryonic
            development. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: AK292279.1, AF532185.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2145774 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266505.12/ ENSP00000266505.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                DB038101.1         49-76
            29-2103             AF532185.1         1-2075
            2104-2105           HY197954.1         5-6                 c
FEATURES             Location/Qualifiers
     source          1..2105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     gene            1..2105
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /note="phospholipase C zeta 1"
                     /db_xref="GeneID:89869"
                     /db_xref="HGNC:HGNC:19218"
                     /db_xref="MIM:608075"
     exon            1..81
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            82..230
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..2046
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /EC_number="3.1.4.11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PI-phospholipase C zeta 1; testis-development related
                     NYD-SP27; phosphoinositide phospholipase C-zeta-1;
                     1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase
                     zeta-1; testicular tissue protein Li 145"
                     /codon_start=1
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase zeta-1 isoform 1"
                     /protein_id="NP_149114.2"
                     /db_xref="CCDS:CCDS8680.1"
                     /db_xref="GeneID:89869"
                     /db_xref="HGNC:HGNC:19218"
                     /db_xref="MIM:608075"
                     /translation="MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIF
                     KDNDRLKQGRITIEEFRAIYRIITHREEIIEIFNTYSENRKILLASNLAQFLTQEQYA
                     AEMSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHP
                     LNDYFISSSHNTYLVSDQLLGPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYT
                     LTSKLLFKTVIQAIHKYAFMTSDYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDM
                     LDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGDNQDKETGVKKLPGVML
                     FKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRV
                     HEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFL
                     DNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLV
                     IIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNE
                     FLGQYTLPLLCMNKGYRRIPLFSRMGESLEPASLFVYVWYVR"
     exon            231..354
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            355..586
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            587..788
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            789..933
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1083
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1168
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1236
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1393
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            1394..1510
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1680
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            1681..1810
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..1960
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     exon            1961..2105
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2086..2091
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /note="hexamer: AATAAA"
     polyA_site      2105
                     /gene="PLCZ1"
                     /gene_synonym="NYD-SP27; PLC-zeta-1; PLCzeta; SPGF17"
                     /note="major polyA site"
ORIGIN      
        1 agtgtggtgc ccagccaacc agctatacct cttttgaaga ttttaagaac ttagcctcct
       61 gaacagtctt cttcgaaagt gaaaagtggt aacagctgat gagtatcaag aaattatttt
      121 ctgcaaaggg gcagagttaa ttgtatttgg aacccatgac agcacctact ggggaaagac
      181 ttctaagtga ggagaaacgg ctctacaggt catgaaacta tggaaatgag atggtttttg
      241 tcaaagattc aggatgactt cagaggtgga aaaattaacc tagaaaaaac tcagaggtta
      301 cttgaaaaat tagatattcg gtgcagttat attcatgtga aacagatttt taaggacaat
      361 gacaggctga aacaaggaag aatcaccata gaagaattta gagcaattta tcgaattatc
      421 acgcacagag aagaaattat tgagattttc aacacatatt ctgaaaaccg gaaaattctt
      481 ttagcaagta atctggctca atttctgaca caagaacaat atgcagctga gatgagtaaa
      541 gctattgctt ttgagatcat tcagaaatac gagcctatcg aagaagttag gaaagcacac
      601 caaatgtcat tagaaggttt tacaagatac atggattcac gtgaatgtct actgtttaaa
      661 aatgaatgta gaaaagttta tcaagatatg actcatccat taaatgatta ttttatttca
      721 tcttcacata acacatattt ggtatctgat caattattgg gaccaagtga cctttgggga
      781 tatgtaagtg cccttgtgaa aggatgccgt tgtttggaga ttgactgctg ggatggagca
      841 caaaatgaac ctgttgtata tcatggctac acactcacaa gcaaacttct gtttaaaact
      901 gttatccaag ctatacacaa gtatgcattc atgacatctg actacccagt ggtgctctct
      961 ttagaaaatc actgctccac tgcccaacaa gaagtaatgg cagacaattt gcaggctact
     1021 tttggagagt ccttgctttc tgatatgctt gatgattttc ctgatactct accatcacca
     1081 gaggcactaa aattcaaaat attagttaaa aataagaaaa taggaacctt aaaggaaacc
     1141 catgaaagaa aaggttctga taagcgtgga gacaatcaag acaaggaaac aggggtaaaa
     1201 aagttacctg gagtaatgct tttcaagaaa aagaagacca ggaagctaaa aattgctctg
     1261 gccttatctg atcttgtcat ttatacgaaa gctgagaaat tcaaaagctt tcaacattca
     1321 agattatatc agcaatttaa tgaaaataat tctattgggg agacacaagc ccgaaaactt
     1381 tcaaaattgc gagtccatga gtttattttt cacaccagga agttcattac cagaatatat
     1441 cccaaagcaa caagagcaga ctcttctaat tttaatcccc aagaattttg gaatataggt
     1501 tgtcaaatgg tggctttaaa tttccagacc cctggtctgc ccatggatct gcaaaatggg
     1561 aaatttttgg ataatggtgg ttctggatat attttgaaac cacatttctt aagagagagt
     1621 aaatcatact ttaacccaag taacataaaa gagggtatgc caattacact tacaataagg
     1681 ctcatcagtg gtatccagtt gcctcttact cattcatcat ctaacaaagg tgattcatta
     1741 gtaattatag aagtttttgg tgttccaaat gatcaaatga agcagcagac tcgtgtaatt
     1801 aaaaaaaatg cttttagtcc aagatggaat gaaacattca catttattat tcatgtccca
     1861 gaattggcat tgatacgttt tgttgttgaa ggtcaaggtt taatagcagg aaatgaattt
     1921 cttgggcaat atactttgcc acttctatgc atgaacaaag gttatcgtcg tattcctctg
     1981 ttttccagaa tgggtgagag ccttgagcct gcttcactgt ttgtttatgt ttggtacgtc
     2041 agataacagc taatgataaa tgacatatca ttagctatgc atcgcaataa aacagccaaa
     2101 atgaa
//
