LOCUS       NM_207341               1968 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens zona pellucida glycoprotein 1 (ZP1), transcript
            variant 1, mRNA.
ACCESSION   NM_207341
VERSION     NM_207341.4
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 1968)
  AUTHORS   Sun,L., Tong,K., Liu,W., Tian,Y., Liu,D., Huang,G. and Li,J.
  TITLE     Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle
            syndrome and abnormal zona pellucida
  JOURNAL   Reprod Biomed Online 46 (5), 847-855 (2023)
   PUBMED   36931917
  REMARK    GeneRIF: Novel variants in ZP1, ZP2 and ZP3 associated with empty
            follicle syndrome and abnormal zona pellucida.
REFERENCE   2  (bases 1 to 1968)
  AUTHORS   Zou,T., Xi,Q., Liu,Z., Li,Z., Hou,M., Zhu,L., Jin,L. and Zhang,X.
  TITLE     A Novel Homozygous Nonsense Mutation in ZP1 Causes Female
            Infertility due to Empty Follicle Syndrome
  JOURNAL   Reprod Sci 29 (12), 3516-3520 (2022)
   PUBMED   35773450
  REMARK    GeneRIF: A Novel Homozygous Nonsense Mutation in ZP1 Causes Female
            Infertility due to Empty Follicle Syndrome.
REFERENCE   3  (bases 1 to 1968)
  AUTHORS   Loeuillet,C., Dhellemmes,M., Cazin,C., Kherraf,Z.E., Fourati Ben
            Mustapha,S., Zouari,R., Thierry-Mieg,N., Arnoult,C. and Ray,P.F.
  TITLE     A recurrent ZP1 variant is responsible for oocyte maturation defect
            with degenerated oocytes in infertile females
  JOURNAL   Clin Genet 102 (1), 22-29 (2022)
   PUBMED   35460069
  REMARK    GeneRIF: A recurrent ZP1 variant is responsible for oocyte
            maturation defect with degenerated oocytes in infertile females.
REFERENCE   4  (bases 1 to 1968)
  AUTHORS   Wang,J., Yang,X., Sun,X., Ma,L., Yin,Y., He,G., Zhang,Y., Zhou,J.,
            Cai,L., Liu,J. and Ma,X.
  TITLE     A novel homozygous nonsense mutation in zona pellucida 1 (ZP1)
            causes human female empty follicle syndrome
  JOURNAL   J Assist Reprod Genet 38 (6), 1459-1468 (2021)
   PUBMED   33665726
  REMARK    GeneRIF: A novel homozygous nonsense mutation in zona pellucida 1
            (ZP1) causes human female empty follicle syndrome.
REFERENCE   5  (bases 1 to 1968)
  AUTHORS   Wu,L., Li,M., Yin,M., Ou,Y., Yan,Z., Kuang,Y., Yan,Z. and Li,B.
  TITLE     Novel mutations in ZP1: Expanding the mutational spectrum
            associated with empty follicle syndrome in infertile women
  JOURNAL   Clin Genet 99 (4), 583-587 (2021)
   PUBMED   33423275
  REMARK    GeneRIF: Novel mutations in ZP1: Expanding the mutational spectrum
            associated with empty follicle syndrome in infertile women.
REFERENCE   6  (bases 1 to 1968)
  AUTHORS   Mannikko,M., Tormala,R.M., Tuuri,T., Haltia,A., Martikainen,H.,
            Ala-Kokko,L., Tapanainen,J.S. and Lakkakorpi,J.T.
  TITLE     Association between sequence variations in genes encoding human
            zona pellucida glycoproteins and fertilization failure in IVF
  JOURNAL   Hum Reprod 20 (6), 1578-1585 (2005)
   PUBMED   15860499
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1968)
  AUTHORS   Van de Water,N., Tan,T., Ashton,F., O'Grady,A., Day,T., Browett,P.,
            Ockelford,P. and Harper,P.
  TITLE     Mutations within the protein Z-dependent protease inhibitor gene
            are associated with venous thromboembolic disease: a new form of
            thrombophilia
  JOURNAL   Br J Haematol 127 (2), 190-194 (2004)
   PUBMED   15461625
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1968)
  AUTHORS   Lefievre,L., Conner,S.J., Salpekar,A., Olufowobi,O., Ashton,P.,
            Pavlovic,B., Lenton,W., Afnan,M., Brewis,I.A., Monk,M., Hughes,D.C.
            and Barratt,C.L.
  TITLE     Four zona pellucida glycoproteins are expressed in the human
  JOURNAL   Hum Reprod 19 (7), 1580-1586 (2004)
   PUBMED   15142998
REFERENCE   9  (bases 1 to 1968)
  AUTHORS   Hughes,D.C. and Barratt,C.L.
  TITLE     Identification of the true human orthologue of the mouse Zp1 gene:
            evidence for greater complexity in the mammalian zona pellucida?
  JOURNAL   Biochim Biophys Acta 1447 (2-3), 303-306 (1999)
   PUBMED   10542331
REFERENCE   10 (bases 1 to 1968)
  AUTHORS   Epifano,O., Liang,L.F. and Dean,J.
  TITLE     Mouse Zp1 encodes a zona pellucida protein homologous to egg
            envelope proteins in mammals and fish
  JOURNAL   J Biol Chem 270 (45), 27254-27258 (1995)
   PUBMED   7592984
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000777.4 and KF455399.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 18, 2020 this sequence version replaced NM_207341.3.
            
            Summary: The zona pellucida is an extracellular matrix that
            surrounds the oocyte and early embryo. It is composed primarily of
            three or four glycoproteins with various functions during
            fertilization and preimplantation development. The protein encoded
            by this gene ensures the structural integrity of the zona
            pellucida. Mutations in this gene are a cause of oocyte maturation
            defect and infertility. [provided by RefSeq, May 2014].
            
            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 :: EU794684.1, SRR14038195.1587106.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2144335,
                                           SAMEA2145743 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278853.10/ ENSP00000278853.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-216               AP000777.4         95214-95429
            217-338             AP000777.4         96817-96938
            339-702             AP000777.4         97209-97572
            703-846             AP000777.4         98004-98147
            847-1034            KF455399.1         154-341
            1035-1132           AP000777.4         98889-98986
            1133-1260           AP000777.4         100834-100961
            1261-1450           AP000777.4         101047-101236
            1451-1592           AP000777.4         101306-101447
            1593-1674           AP000777.4         102605-102686
            1675-1794           AP000777.4         102801-102920
            1795-1968           AP000777.4         103186-103359
FEATURES             Location/Qualifiers
     source          1..1968
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..1968
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /note="zona pellucida glycoprotein 1"
                     /db_xref="GeneID:22917"
                     /db_xref="HGNC:HGNC:13187"
                     /db_xref="MIM:195000"
     exon            1..216
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1937
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; epididymis luminal protein 163; zona pellucida
                     sperm-binding protein 1; zona pellucida glycoprotein 1
                     (sperm receptor)"
                     /codon_start=1
                     /product="zona pellucida sperm-binding protein 1 isoform 1
                     precursor"
                     /protein_id="NP_997224.2"
                     /db_xref="CCDS:CCDS31572.1"
                     /db_xref="GeneID:22917"
                     /db_xref="HGNC:HGNC:13187"
                     /db_xref="MIM:195000"
                     /translation="MAGGSATTWGYPVALLLLVATLGLGRWLQPDPGLPGLRHSYDCG
                     IKGMQLLVFPRPGQTLRFKVVDEFGNRFDVNNCSICYHWVTSRPQEPAVFSADYRGCH
                     VLEKDGRFHLRVFMEAVLPNGRVDVAQDATLICPKPDPSRTLDSQLAPPAMFSVSTPQ
                     TLSFLPTSGHTSQGSGHAFPSPLDPGHSSVHPTPALPSPGPGPTLATLAQPHWGTLEH
                     WDVNKRDYIGTHLSQEQCQVASGHLPCIVRRTSKEACQQAGCCYDNTREVPCYYGNTA
                     TVQCFRDGYFVLVVSQEMALTHRITLANIHLAYAPTSCSPTQHTEAFVVFYFPLTHCG
                     TTMQVAGDQLIYENWLVSGIHIQKGPQGSITRDSTFQLHVRCVFNASDFLPIQASIFP
                     PPSPAPMTQPGPLRLELRIAKDETFSSYYGEDDYPIVRLLREPVHVEVRLLQRTDPNL
                     VLLLHQCWGAPSANPFQQPQWPILSDGCPFKGDSYRTQMVALDGATPFQSHYQRFTVA
                     TFALLDSGSQRALRGLVYLFCSTSACHTSGLETCSTACSTGTTRQRRSSGHRNDTARP
                     QDIVSSPGPVGFEDSYGQEPTLGPTDSNGNSSLRPLLWAVLLLPAVALVLGFGVFVGL
                     SQTWAQKLWESNRQ"
     exon            217..338
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            339..702
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            703..846
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            847..1034
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1132
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1260
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1450
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1592
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1674
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1675..1794
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1795..1968
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1946..1951
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /note="hexamer: AATAAA"
     polyA_site      1968
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; OZEMA1; ZPB1"
                     /note="major polyA site"
ORIGIN      
        1 gggtgtgtct gtggcgtctc atggcaggag gctcagccac gacctggggt taccctgtgg
       61 ccctgctact gctggttgcc accctggggc tgggtaggtg gctccagccc gaccctggcc
      121 tcccaggcct ccggcacagc tacgactgtg ggatcaaggg aatgcagctg ctggtgttcc
      181 ccaggccagg ccagactctc cgcttcaagg tggtggatga atttgggaac cgatttgatg
      241 tcaacaactg ctccatctgc taccactggg tcacctccag gccgcaggag cctgcagtct
      301 tctcggccga ttacagaggc tgccacgtgc tggagaagga tgggcgtttc cacctgaggg
      361 tgttcatgga ggctgtgctg cccaatggtc gtgtggatgt ggcacaagac gctactctga
      421 tctgtcccaa acctgacccc tcccggactc tggactccca gctggcacca cccgccatgt
      481 tctctgtctc aaccccacaa accctttcct tcctccccac ctctggccat acctcccaag
      541 gctctggcca tgcctttccc agcccactgg acccagggca cagctctgtc cacccaaccc
      601 ctgctttacc atcccctgga cctggaccta ccctcgccac cctggctcaa ccccactggg
      661 gcaccttgga acactgggat gtgaacaaac gagattacat aggtacccac ctgagccagg
      721 agcagtgcca ggtggcctca gggcacctcc cctgcatcgt gagaagaact tcaaaagaag
      781 cctgtcagca ggctggctgc tgctatgaca acaccagaga ggttccctgt tactatggca
      841 acacagctac tgtccagtgc ttcagagatg gctacttcgt cctcgtggtg tcccaagaaa
      901 tggccttgac acacaggatc acactggcca acatccacct ggcctatgcc cccaccagct
      961 gctccccaac acagcacacg gaagctttcg tggtcttcta cttccctctc acccactgtg
     1021 gaaccacaat gcaggtggct ggcgaccagc tcatctatga gaactggctg gtgtctggca
     1081 tccacatcca aaaggggcca cagggttcca tcacgcggga cagcaccttc cagcttcatg
     1141 tgcgctgtgt cttcaacgcc agtgacttcc tgcccattca ggcatccatt ttcccacccc
     1201 catcgcctgc tcctatgacc cagcccggcc ccctgcggct tgagctgcgg attgccaaag
     1261 acgagacctt cagctcgtac tatggggagg atgactatcc catcgtgagg ctgctccgag
     1321 aaccagtcca tgtggaggtc cggcttctgc agaggacaga ccccaacctg gtcctgctgc
     1381 tgcaccagtg ctggggcgct cccagtgcca accccttcca gcagccccag tggcccatcc
     1441 tgtcagacgg atgccctttc aagggcgaca gctacagaac ccaaatggta gccttggacg
     1501 gggccacacc tttccagtcg cactaccagc gattcactgt tgctaccttc gccctcctgg
     1561 actcaggctc ccagagagcc ctcagaggac tggtttactt gttctgcagc acctctgcct
     1621 gccacacctc agggctggag acttgctcca ctgcatgtag cactggcact acaagacagc
     1681 gacgatcctc aggtcaccgt aatgacactg ccaggcccca ggacatcgtg agctctccgg
     1741 ggccagtggg ctttgaggat tcttatgggc aggagcccac acttgggccc acagactcca
     1801 atgggaactc cagcctgaga cctctccttt gggcggtcct tttgctgcca gctgttgccc
     1861 tggtccttgg gtttggtgtc tttgtgggcc tgagccagac ctgggcccag aagctctggg
     1921 aaagcaacag acagtgaatg ggcccaataa acaatcattt caaaccta
//
