LOCUS       NM_182575               1657 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens izumo sperm-oocyte fusion 1 (IZUMO1), transcript
            variant 1, mRNA.
ACCESSION   NM_182575
VERSION     NM_182575.3
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 1657)
  AUTHORS   Deneke,V.E., Blaha,A., Lu,Y., Suwita,J.P., Draper,J.M., Phan,C.S.,
            Panser,K., Schleiffer,A., Jacob,L., Humer,T., Stejskal,K.,
            Krssakova,G., Roitinger,E., Handler,D., Kamoshita,M., Vance,T.D.R.,
            Wang,X., Surm,J.M., Moran,Y., Lee,J.E., Ikawa,M. and Pauli,A.
  TITLE     A conserved fertilization complex bridges sperm and egg in
            vertebrates
  JOURNAL   Cell 187 (25), 7066-7078 (2024)
   PUBMED   39423812
REFERENCE   2  (bases 1 to 1657)
  AUTHORS   Bianchi,E., Jimenez-Movilla,M., Cots-Rodriguez,P., Viola,C. and
            Wright,G.J.
  TITLE     No evidence for a direct extracellular interaction between human Fc
            receptor-like 3 (MAIA) and the sperm ligand IZUMO1
  JOURNAL   Sci Adv 10 (8), eadk6352 (2024)
   PUBMED   38381819
  REMARK    GeneRIF: No evidence for a direct extracellular interaction between
            human Fc receptor-like 3 (MAIA) and the sperm ligand IZUMO1.
REFERENCE   3  (bases 1 to 1657)
  AUTHORS   Allingham,J. and Floriano,W.B.
  TITLE     Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved
            in human reproduction
  JOURNAL   PLoS One 16 (12), e0260692 (2021)
   PUBMED   34879103
  REMARK    GeneRIF: Genetic diversity in the IZUMO1-JUNO protein-receptor pair
            involved in human reproduction.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1657)
  AUTHORS   Aydin,H., Sultana,A., Li,S., Thavalingam,A. and Lee,J.E.
  TITLE     Molecular architecture of the human sperm IZUMO1 and egg JUNO
            fertilization complex
  JOURNAL   Nature 534 (7608), 562-565 (2016)
   PUBMED   27309818
  REMARK    GeneRIF: crystal structures of human IZUMO1 and JUNO in unbound and
            bound conformations
REFERENCE   5  (bases 1 to 1657)
  AUTHORS   Ohto,U., Ishida,H., Krayukhina,E., Uchiyama,S., Inoue,N. and
            Shimizu,T.
  TITLE     Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during
            mammalian fertilization
  JOURNAL   Nature 534 (7608), 566-569 (2016)
   PUBMED   27309808
  REMARK    GeneRIF: crystal structures of human IZUMO1, JUNO and the
            IZUMO1-JUNO complex, establishing the structural basis for the
            IZUMO1-JUNO-mediated sperm-oocyte interaction
REFERENCE   6  (bases 1 to 1657)
  AUTHORS   Ellerman,D.A., Pei,J., Gupta,S., Snell,W.J., Myles,D. and
            Primakoff,P.
  TITLE     Izumo is part of a multiprotein family whose members form large
            complexes on mammalian sperm
  JOURNAL   Mol Reprod Dev 76 (12), 1188-1199 (2009)
   PUBMED   19658160
REFERENCE   7  (bases 1 to 1657)
  AUTHORS   Inoue,N., Ikawa,M. and Okabe,M.
  TITLE     Putative sperm fusion protein IZUMO and the role of N-glycosylation
  JOURNAL   Biochem Biophys Res Commun 377 (3), 910-914 (2008)
   PUBMED   18952059
REFERENCE   8  (bases 1 to 1657)
  AUTHORS   Granados-Gonzalez,V., Aknin-Seifer,I., Touraine,R.L., Chouteau,J.,
            Wolf,J.P. and Levy,R.
  TITLE     Preliminary study on the role of the human IZUMO gene in
            oocyte-spermatozoa fusion failure
  JOURNAL   Fertil Steril 90 (4), 1246-1248 (2008)
   PUBMED   18082733
  REMARK    GeneRIF: We observed in our populations two combinations of four
            polymorphisms that appeared to be preferentially linked (CGG-CG and
            TAA-TT) without any significant difference between different
            genotype repartitions.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1657)
  AUTHORS   Yatsenko,A.N., Roy,A., Chen,R., Ma,L., Murthy,L.J., Yan,W.,
            Lamb,D.J. and Matzuk,M.M.
  TITLE     Non-invasive genetic diagnosis of male infertility using
            spermatozoal RNA: KLHL10 mutations in oligozoospermic patients
            impair homodimerization
  JOURNAL   Hum Mol Genet 15 (23), 3411-3419 (2006)
   PUBMED   17047026
REFERENCE   10 (bases 1 to 1657)
  AUTHORS   Inoue,N., Ikawa,M., Isotani,A. and Okabe,M.
  TITLE     The immunoglobulin superfamily protein Izumo is required for sperm
            to fuse with eggs
  JOURNAL   Nature 434 (7030), 234-238 (2005)
   PUBMED   15759005
  REMARK    GeneRIF: human sperm contain Izumo and addition of the antibody
            against human Izumo left the sperm unable to fuse with zona-free
            hamster eggs [Izumo]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC034769.1 and AC009002.5.
            
            On May 17, 2019 this sequence version replaced NM_182575.2.
            
            Summary: The sperm-specific protein Izumo, named for a Japanese
            shrine dedicated to marriage, is essential for sperm-egg plasma
            membrane binding and fusion (Inoue et al., 2005 [PubMed
            15759005]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            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 :: BC034769.1, AB195682.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332955.7/ ENSP00000327786.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-278               BC034769.1         1-278
            279-469             AC009002.5         21297-21487
            470-868             BC034769.1         470-868
            869-869             AC009002.5         23399-23399
            870-1545            BC034769.1         870-1545
            1546-1621           AC009002.5         26965-27040
            1622-1657           AC009002.5         27041-27076
FEATURES             Location/Qualifiers
     source          1..1657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..1657
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /note="izumo sperm-oocyte fusion 1"
                     /db_xref="GeneID:284359"
                     /db_xref="HGNC:HGNC:28539"
                     /db_xref="MIM:609278"
     exon            1..475
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     exon            476..783
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     CDS             549..1601
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; izumo sperm-egg fusion protein 1;
                     sperm-specific protein Izumo; oocyte binding/fusion
                     factor; izumo sperm-egg fusion 1"
                     /codon_start=1
                     /product="izumo sperm-egg fusion protein 1 isoform 1
                     precursor"
                     /protein_id="NP_872381.2"
                     /db_xref="CCDS:CCDS12732.1"
                     /db_xref="GeneID:284359"
                     /db_xref="HGNC:HGNC:28539"
                     /db_xref="MIM:609278"
                     /translation="MGPHFTLLCAALAGCLLPAEGCVICDPSVVLALKSLEKDYLPGH
                     LDAKHHKAMMERVENAVKDFQELSLNEDAYMGVVDEATLQKGSWSLLKDLKRITDSDV
                     KGDLFVKELFWMLHLQKETFATYVARFQKEAYCPNKCGVMLQTLIWCKNCKKEVHACR
                     KSYDCGERNVEVPQMEDMILDCELNWHQASEGLTDYSFYRVWGNNTETLVSKGKEATL
                     TKPMVGPEDAGSYRCELGSVNSSPATIINFHVTVLPKMIKEEKPSPNIVTPGEATTES
                     SISLQPLQPEKMLASRLLGLLICGSLALITGLTFAIFRRRKVIDFIKSSLFGLGSGAA
                     EQTQVPKEKATDSRQQ"
     exon            784..858
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     exon            859..945
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     exon            946..966
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1047
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1148
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1302
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1480
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1657
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1597..1602
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /note="hexamer: AATAAA"
     polyA_site      1621
                     /gene="IZUMO1"
                     /gene_synonym="IZUMO; OBF"
                     /note="major polyA site"
ORIGIN      
        1 ggaatatcta taaaggaatt cgggccccta cgtgagaagc tcggaggggg tggtttcagg
       61 agttccttgt ggagagggga tcgtccgtga ctcagacccc gtcgaaaagc tctcgatttc
      121 acgcaaccaa ccttaccctc gtccccaaca caatccttga ttttacccct gggaaaatta
      181 gcgtaggtgg tcatgacccc ggcttcctct ttaaaagccc tcagaacctg gaccgggctc
      241 ctcaatgaac cctagtgtta gaggccacaa atcgggaacc aaggtcgggg agcggctgtt
      301 tagggtgcat cactgttcag gatgcatcgg ggctcctttt tctaagcgga agggtgcgcc
      361 ctgcaaattg ggagcccgtt agttttgggg aagggtgaac aagggccccc taggtctaga
      421 ggaccgcatg gagtctcgct taagtgttag tggggtcctc agttctagga atctgcgttc
      481 tcctgctctc ggtttggggt gagagcaccc ttcctaacgg tcttcgggaa ctgtgcgcgc
      541 cggctgcaat ggggccgcat tttaccctcc tgtgtgcggc gctggccggt tgcttgcttc
      601 ctgccgaggg gtgtgttata tgtgacccgt ctgtcgtgct ggcgctaaag tccctggaga
      661 aagattacct gcctggccac ctggatgcga agcatcacaa agccatgatg gaaagggtag
      721 agaatgccgt gaaggatttc caggaactgt cgcttaatga ggatgcctat atgggggtcg
      781 ttgatgaggc cacactgcaa aaggggtcct ggagtttgct gaaggatctg aaacgcatca
      841 cagacagtga tgtaaaaggc gatctcttcg tgaaggagct attttggatg ttgcacttgc
      901 aaaaggaaac ctttgccacc tatgttgctc gattccaaaa agaggcttat tgtcccaaca
      961 aatgtggtgt gatgttgcaa actctgatct ggtgcaagaa ctgcaaaaag gaggttcacg
     1021 cttgtcgaaa gtcctacgat tgcggggagc ggaatgtgga agttcctcaa atggaagaca
     1081 tgatcctgga ctgtgagtta aactggcatc aggcttcgga aggcctcact gattacagct
     1141 tttacagggt ttgggggaac aatacggaga ccttggtgtc caaggggaaa gaggccaccc
     1201 tgaccaagcc catggtgggt ccagaggatg caggcagcta ccgctgcgag ctgggctctg
     1261 tgaattccag cccagccacg atcatcaatt ttcacgtcac agtgttgccc aaaatgatca
     1321 aggaggaaaa accttctcca aatatcgtaa ccccggggga ggcgaccacg gagtcgtcca
     1381 taagcctcca gcctctgcag cccgagaaaa tgctggcaag ccgccttctg gggctgctga
     1441 tctgcggctc cctagcactg ataaccggcc ttacctttgc gatatttcgt cgaaggaagg
     1501 tgatcgattt catcaaatcc tcactgtttg gccttggcag tggagcggcc gagcaaaccc
     1561 aggtcccaaa agaaaaggcc acagattcga ggcaacaata aagatttatc ttgttgtcta
     1621 agcatctgac tcactccccg ggacgggact gattcta
//
