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    IZUMO1 izumo sperm-oocyte fusion 1 [ Homo sapiens (human) ]

    Gene ID: 284359, updated on 3-Nov-2024

    Summary

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    Official Symbol
    IZUMO1provided by HGNC
    Official Full Name
    izumo sperm-oocyte fusion 1provided by HGNC
    Primary source
    HGNC:HGNC:28539
    See related
    Ensembl:ENSG00000182264 MIM:609278; AllianceGenome:HGNC:28539
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OBF; IZUMO
    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]
    Expression
    Biased expression in testis (RPKM 5.7), placenta (RPKM 0.3) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IZUMO1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48740852..48746909, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51735271..51741330, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49244109..49250166, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene fucosyltransferase 2 (H blood group) Neighboring gene MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49223623-49224568 Neighboring gene Ras interacting protein 1 Neighboring gene uncharacterized LOC124904737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49242120-49242659 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49249661-49250446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49250447-49251232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49254255-49254894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49256100-49256686 Neighboring gene FGF21/FUT1 promoter region Neighboring gene fucosyltransferase 1 (H blood group) Neighboring gene fibroblast growth factor 21

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. No evidence for a direct extracellular interaction between human Fc receptor-like 3 (MAIA) and the sperm ligand IZUMO1.
      Title: No evidence for a direct extracellular interaction between human Fc receptor-like 3 (MAIA) and the sperm ligand IZUMO1.
    2. Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction.
      Title: Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction.
    3. crystal structures of human IZUMO1 and JUNO in unbound and bound conformations
      Title: Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex.
    4. crystal structures of human IZUMO1, JUNO and the IZUMO1-JUNO complex, establishing the structural basis for the IZUMO1-JUNO-mediated sperm-oocyte interaction
      Title: Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization.
    5. these findings indicate that human sperm expresses Izumo protein, and the immunoinfertile female sera have circulating isoantibodies against this protein.
      Title: Presence and incidence of izumo antibodies in sera of immunoinfertile women and men.
    6. 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.
      Title: Preliminary study on the role of the human IZUMO gene in oocyte-spermatozoa fusion failure.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Preliminary study on the role of the human IZUMO gene in oocyte-spermatozoa fusion failure.
    8. human sperm contain Izumo and addition of the antibody against human Izumo left the sperm unable to fuse with zona-free hamster eggs [Izumo]
      Title: The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    EBI GWAS Catalog
    Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Novel locus including FGF21 is associated with dietary macronutrient intake.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: FUT1

    Homology

    Clone Names

    • FLJ61440, MGC34799

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding involved in heterotypic cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding involved in heterotypic cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heterotypic cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heterotypic cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in single fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm-egg recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm-egg recognition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in acrosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of protein complex involved in cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    izumo sperm-egg fusion protein 1
    Names
    izumo sperm-egg fusion 1
    oocyte binding/fusion factor
    sperm-specific protein Izumo

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001321864.1 → NP_001308793.1  izumo sperm-egg fusion protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009002
      UniProtKB/TrEMBL
      B4DX00
      Conserved Domains (2) summary
      pfam15005
      Location:1 → 53
      IZUMO; Izumo sperm-egg fusion, Ig domain-associated
      pfam16706
      Location:57 → 142
      Izumo-Ig; Immunoglobulin domain

    2. NM_001321865.1 → NP_001308794.1  izumo sperm-egg fusion protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC009002, AY552609, BC034769, BC050460
      UniProtKB/Swiss-Prot
      Q8IYV9
      Conserved Domains (1) summary
      pfam16706
      Location:1 → 81
      Izumo-Ig; Immunoglobulin domain

    3. NM_182575.3 → NP_872381.2  izumo sperm-egg fusion protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_872381.2

      Status: VALIDATED

      Source sequence(s)
      AC009002, BC034769
      Consensus CDS
      CCDS12732.1
      UniProtKB/Swiss-Prot
      Q6Q8P6, Q6Q8P7, Q8IYV9
      Related
      ENSP00000327786.2, ENST00000332955.7
      Conserved Domains (2) summary
      pfam15005
      Location:21 → 166
      IZUMO; Izumo sperm-egg fusion, Ig domain-associated
      pfam16706
      Location:170 → 255
      Izumo-Ig; Immunoglobulin domain

    RNA

    1. NR_135832.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY552610, BC034769, BC050460, HY234566
      Related
      ENST00000595517.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48740852..48746909 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51735271..51741330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYV9.2 GenPept UniProtKB/Swiss-Prot:Q8IYV9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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