LOCUS       NM_007009               1195 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens zona pellucida binding protein (ZPBP), transcript
            variant 1, mRNA.
ACCESSION   NM_007009
VERSION     NM_007009.3
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 1195)
  AUTHORS   Oud,M.S., Okutman,O., Hendricks,L.A.J., de Vries,P.F.,
            Houston,B.J., Vissers,L.E.L.M., O'Bryan,M.K., Ramos,L.,
            Chemes,H.E., Viville,S. and Veltman,J.A.
  TITLE     Exome sequencing reveals novel causes as well as new candidate
            genes for human globozoospermia
  JOURNAL   Hum Reprod 35 (1), 240-252 (2020)
   PUBMED   31985809
REFERENCE   2  (bases 1 to 1195)
  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   3  (bases 1 to 1195)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   4  (bases 1 to 1195)
  AUTHORS   Yatsenko,A.N., O'Neil,D.S., Roy,A., Arias-Mendoza,P.A., Chen,R.,
            Murthy,L.J., Lamb,D.J. and Matzuk,M.M.
  TITLE     Association of mutations in the zona pellucida binding protein 1
            (ZPBP1) gene with abnormal sperm head morphology in infertile men
  JOURNAL   Mol Hum Reprod 18 (1), 14-21 (2012)
   PUBMED   21911476
  REMARK    GeneRIF: Data suggest that missense mutations exert a
            dominant-negative effect due to altered ZPBP1 protein folding and
            protein:protein interactions in the acrosome.
REFERENCE   5  (bases 1 to 1195)
  AUTHORS   Furney,S.J., Simmons,A., Breen,G., Pedroso,I., Lunnon,K.,
            Proitsi,P., Hodges,A., Powell,J., Wahlund,L.O., Kloszewska,I.,
            Mecocci,P., Soininen,H., Tsolaki,M., Vellas,B., Spenger,C.,
            Lathrop,M., Shen,L., Kim,S., Saykin,A.J., Weiner,M.W. and
            Lovestone,S.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative; AddNeuroMed Consortium
  TITLE     Genome-wide association with MRI atrophy measures as a quantitative
            trait locus for Alzheimer's disease
  JOURNAL   Mol Psychiatry 16 (11), 1130-1138 (2011)
   PUBMED   21116278
REFERENCE   6  (bases 1 to 1195)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   7  (bases 1 to 1195)
  AUTHORS   Franke,A., McGovern,D.P., Barrett,J.C., Wang,K.,
            Radford-Smith,G.L., Ahmad,T., Lees,C.W., Balschun,T., Lee,J.,
            Roberts,R., Anderson,C.A., Bis,J.C., Bumpstead,S., Ellinghaus,D.,
            Festen,E.M., Georges,M., Green,T., Haritunians,T., Jostins,L.,
            Latiano,A., Mathew,C.G., Montgomery,G.W., Prescott,N.J.,
            Raychaudhuri,S., Rotter,J.I., Schumm,P., Sharma,Y., Simms,L.A.,
            Taylor,K.D., Whiteman,D., Wijmenga,C., Baldassano,R.N., Barclay,M.,
            Bayless,T.M., Brand,S., Buning,C., Cohen,A., Colombel,J.F.,
            Cottone,M., Stronati,L., Denson,T., De Vos,M., D'Inca,R.,
            Dubinsky,M., Edwards,C., Florin,T., Franchimont,D., Gearry,R.,
            Glas,J., Van Gossum,A., Guthery,S.L., Halfvarson,J.,
            Verspaget,H.W., Hugot,J.P., Karban,A., Laukens,D., Lawrance,I.,
            Lemann,M., Levine,A., Libioulle,C., Louis,E., Mowat,C., Newman,W.,
            Panes,J., Phillips,A., Proctor,D.D., Regueiro,M., Russell,R.,
            Rutgeerts,P., Sanderson,J., Sans,M., Seibold,F., Steinhart,A.H.,
            Stokkers,P.C., Torkvist,L., Kullak-Ublick,G., Wilson,D.,
            Walters,T., Targan,S.R., Brant,S.R., Rioux,J.D., D'Amato,M.,
            Weersma,R.K., Kugathasan,S., Griffiths,A.M., Mansfield,J.C.,
            Vermeire,S., Duerr,R.H., Silverberg,M.S., Satsangi,J.,
            Schreiber,S., Cho,J.H., Annese,V., Hakonarson,H., Daly,M.J. and
            Parkes,M.
  TITLE     Genome-wide meta-analysis increases to 71 the number of confirmed
            Crohn's disease susceptibility loci
  JOURNAL   Nat Genet 42 (12), 1118-1125 (2010)
   PUBMED   21102463
REFERENCE   8  (bases 1 to 1195)
  AUTHORS   Lin,Y.N., Roy,A., Yan,W., Burns,K.H. and Matzuk,M.M.
  TITLE     Loss of zona pellucida binding proteins in the acrosomal matrix
            disrupts acrosome biogenesis and sperm morphogenesis
  JOURNAL   Mol Cell Biol 27 (19), 6794-6805 (2007)
   PUBMED   17664285
  REMARK    GeneRIF: Data show that loss of zona pellucida binding proteins 1
            and 2 in the acrosomal matrix disrupts acrosome biogenesis and
            sperm morphogenesis.
            Erratum:[Mol Cell Biol. 2008 Apr;28(7):2495]
REFERENCE   9  (bases 1 to 1195)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of human ZPBP-like gene in
            silico
  JOURNAL   Int J Mol Med 12 (3), 399-404 (2003)
   PUBMED   12883658
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC034148.9, BC005223.1 and AI207093.1.
            
            On Nov 22, 2018 this sequence version replaced NM_007009.2.
            
            Summary: ZPBP is one of several proteins that are thought to
            participate in secondary binding between acrosome-reacted sperm and
            the egg-specific extracellular matrix, the zona pellucida (McLeskey
            et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC005223.1, D17570.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2144120 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000046087.7/ ENSP00000046087.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AC034148.9         146136-146158       c
            24-1186             BC005223.1         1-1163
            1187-1195           AI207093.1         15-23               c
FEATURES             Location/Qualifiers
     source          1..1195
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.2"
     gene            1..1195
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /note="zona pellucida binding protein"
                     /db_xref="GeneID:11055"
                     /db_xref="HGNC:HGNC:15662"
                     /db_xref="MIM:608498"
     exon            1..179
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..1108
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; zona pellucida-binding protein 1; inner
                     acrosomal membrane IAM38"
                     /codon_start=1
                     /product="zona pellucida-binding protein 1 isoform 1
                     precursor"
                     /protein_id="NP_008940.2"
                     /db_xref="CCDS:CCDS5509.1"
                     /db_xref="GeneID:11055"
                     /db_xref="HGNC:HGNC:15662"
                     /db_xref="MIM:608498"
                     /translation="MEAFALGPARRGRRRTRAAGSLLSRAAILLFISAFLVRVPSSVG
                     HLVRLPRAFRLTKDSVKIVGSTSFPVKAYVMLHQKSPHVLCVTQQLRNAELIDPSFQW
                     YGPKGKVVSVENRTAQITSTGSLVFQNFEESMSGIYTCFLEYKPTVEEIVKRLQLKYA
                     IYAYREPHYYYQFTARYHAAPCNSIYNISFEKKLLQILSKLLLDLSCEISLLKSECHR
                     VKMQRAGLQNELFFAFSVSSLDTEKGPKRCTDHNCEPYKRLFKAKNLIERFFNQQVEI
                     LGRRAEQLPQIYYIEGTLQMVWINRCFPGYGMNVQQHPKCPECCVICSPGSYNPRDGI
                     HCLQCNSSLVYGAKTCL"
     exon            180..260
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            261..386
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            387..539
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            540..758
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            759..835
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            836..1013
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1195
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1172..1177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /note="hexamer: AATAAA"
     polyA_site      1195
                     /gene="ZPBP"
                     /gene_synonym="SPGF66; ZPBP1"
                     /note="major polyA site"
ORIGIN      
        1 gttgcctaac gaccttccgc gcggacggtg ggcaggcgac ggcggcgtgt ggatggaggc
       61 cttcgccctt ggcccagcgc ggcggggcag gcggcggacc cgggccgccg gctccctgct
      121 ctctcgggcc gccatcctcc tctttatctc cgccttcctg gtgcgggtgc cctcatcagt
      181 tggacacttg gttcgattac caagagcttt tcgcttgacc aaagattcag tgaaaatagt
      241 gggatcaaca agttttccag tgaaagcgta tgtcatgctc catcaaaaga gtccacacgt
      301 gttatgtgta acgcaacaac tgcgaaatgc tgaactgata gacccatcat tccaatggta
      361 tgggcctaaa ggaaaagttg tttcagtaga aaaccgcact gcacaaataa catccacagg
      421 aagccttgta ttccaaaatt ttgaggagag tatgagtgga atttatacat gtttcctcga
      481 atataaacct actgtggaag aaattgttaa acgtcttcaa ctaaaatatg ctatatatgc
      541 ttatcgtgag cctcattatt attatcagtt cacagctcga tatcatgcag ctccctgcaa
      601 tagcatttat aatatttctt ttgagaagaa acttcttcag attttaagca aactgcttct
      661 tgacctttca tgtgaaattt ccttacttaa gtctgaatgc catcgcgtta aaatgcaaag
      721 agctggtttg caaaatgaat tgttctttgc attttcagtt tcatctctag acactgaaaa
      781 aggacccaag cgatgtacag accataactg tgaaccttac aaaagacttt ttaaggctaa
      841 aaatctcata gagagatttt ttaatcaaca agtagaaatt cttggcagac gtgcagaaca
      901 attacctcaa atatactata ttgaaggtac tctccaaatg gtttggatta atcgctgctt
      961 tccaggatat ggaatgaatg tccagcaaca tccaaaatgt cctgagtgct gtgtgatctg
     1021 cagccctgga tcatataacc cccgtgatgg aattcattgc cttcaatgca atagcagcct
     1081 ggtgtatgga gcaaaaacgt gcttataagc cattatcttc agttattcag tggtttatta
     1141 aatgcaaagt atatatttga aatattaaca taataaatta ttatgccaaa attaa
//
