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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IZUMO1 Gene

protein-coding   GIFtS: 50
GCID: GC19M049244

Izumo Sperm-Egg Fusion 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Izumo Sperm-Egg Fusion 11 2
Oocyte Binding/Fusion Factor1 2 3
Sperm-Specific Protein Izumo2 3
OBF2 3
IZUMO2
Izumo Sperm-Egg Fusion Protein 12

External Ids:    HGNC: 285391   Entrez Gene: 2843592   Ensembl: ENSG000001822647   OMIM: 6092785   UniProtKB: Q8IYV93   

Export aliases for IZUMO1 gene to outside databases

Previous GC identifers: GC19M053939 GC19M045623


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IZUMO1 Gene:
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)

GeneCards Summary for IZUMO1 Gene: 
IZUMO1 (izumo sperm-egg fusion 1) is a protein-coding gene. Diseases associated with IZUMO1 include male infertility, and infertility, and among its related super-pathways are Interaction With The Zona Pellucida. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot: IZUM1_HUMAN, Q8IYV9
Function: Involved in the fertilization process. May be involved in the fusion of the sperm with the egg




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IZUMO1 gene promoter:
         PPAR-gamma1   p300   MyoD   STAT3   PPAR-gamma2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIZUMO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for IZUMO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IZUMO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

IZUMO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IZUMO1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049244:  view genomic region     (about GC identifiers)

Start:
49,244,109 bp from pter      End:
49,250,166 bp from pter
Size:
6,058 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IZUM1_HUMAN, Q8IYV9 (See protein sequence)
Recommended Name: Izumo sperm-egg fusion protein 1 precursor  
Size: 350 amino acids; 38930 Da
Subunit: Monomer, homodimer and homooligomer (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Miscellaneous: Izumo is the name of a Japanese shrine to marriage
Secondary accessions: Q6Q8P6 Q6Q8P7
Alternative splicing: 3 isoforms:  Q8IYV9-1   Q8IYV9-2   Q8IYV9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IZUMO1: NX_Q8IYV9

Explore proteomics data for IZUMO1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated. Glycosylation is not essential for fusion and for proper protein trafficking in sperm (By
    similarity)
  • UniProtKB: Phosphorylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IYV9

  • IZUMO1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IZUMO1 Protein Expression
    REFSEQ proteins: NP_872381.2  
    ENSEMBL proteins: 
     ENSP00000327786   ENSP00000470144   ENSP00000471815   ENSP00000471134  
    Reactome Protein details: Q8IYV9
    Human Recombinant Protein Products for IZUMO1: 
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    Cloud-Clone Corp. Proteins for IZUMO1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle ----
    GO:0002080acrosomal membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IDA15759005

    IZUMO1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR013783 Ig-like_fold
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q8IYV9

    ProtoNet protein and cluster: Q8IYV9

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: IZUM1_HUMAN, Q8IYV9
    Similarity: Belongs to the Izumo family
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain


    IZUMO1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IZUM1_HUMAN, Q8IYV9
    Function: Involved in the fertilization process. May be involved in the fusion of the sperm with the egg

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity ISS--
         
    IZUMO1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Izumo1):
     reproductive system 

    IZUMO1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Izumo1tm1Osb for IZUMO1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for IZUMO1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IZUMO1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fertilization
    Fertilization0.38
    Reproduction0.38
    2Sperm:Oocyte Membrane Binding
    Sperm:Oocyte Membrane Binding

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for IZUMO1
        Fertilization
    Reproduction
    Sperm:Oocyte Membrane Binding



    IZUMO1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IZUMO1

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IC15759005
    GO:0007338single fertilization TAS--
    GO:0007342fusion of sperm to egg plasma membrane TAS--
    GO:0032504multicellular organism reproduction TAS--

    IZUMO1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IZUMO1 (IZUM1)

    Search CenterWatch for drugs/clinical trials and news about IZUMO1 / IZUM1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IZUMO1 gene: 
    NM_182575.2  

    Unigene Cluster for IZUMO1:

    Izumo sperm-egg fusion 1
    Hs.400688  [show with all ESTs]
    Unigene Representative Sequence: AK301750
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000599871 ENST00000332955(uc010eme.3 uc010emf.3 uc002pkj.3)
    ENST00000595937 ENST00000595517 ENST00000597553 ENST00000602105
    miRNA
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    Inhib. RNA
    Products:
         
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    Additional mRNA sequence: 

    AB195682.1 AK301750.1 AY552609.1 AY552610.1 BC034769.1 

    5 DOTS entries:

    DT.97790052  DT.102826248  DT.99963967  DT.121466017  DT.95187831 

    24/68 AceView cDNA sequences (see all 68):

    BC021860 BM906443 BM694838 AW969501 BE856162 AA503542 AK123179 BF516076 
    AK000408 CR608210 NM_017805 AI241453 AW772163 BF197429 AI143393 BX089325 
    BC050460 AI928221 BM856693 AI830353 BM993355 BX389914 AI808410 AY378097 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for IZUMO1    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:                                                  -           -                           
    SP2:                    -                             -                                       
    SP3:                                                              -                           


    ECgene alternative splicing isoforms for IZUMO1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IZUMO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGGTCCAG
    IZUMO1 Expression
    About this image


    See IZUMO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IZUMO1

    SOURCE GeneReport for Unigene cluster: Hs.400688

    UniProtKB/Swiss-Prot: IZUM1_HUMAN, Q8IYV9
    Tissue specificity: Sperm-specific (at protein level). Detectable on sperm surface only after the acrosome
    reaction

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for IZUMO1 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Izumo11 , 5 izumo sperm-egg fusion 11, 5 63.11(n)1
    52.45(a)1
      7 (29.39 cM)5
    734561  NM_001018013.11  NP_001018013.11 
     456218115 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003293651 izumo sperm-egg fusion protein 1-like 43.27(n)
    29.09(a)
      100329365  XM_002663183.2  XP_002663229.2 


    ENSEMBL Gene Tree for IZUMO1 (if available)
    TreeFam Gene Tree for IZUMO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/159 SNPs in IZUMO1 are shown (see all 159)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0553994
    ----see VAR_0553992 A V mis40--------
    rs348948071,2
    C--49245982(+) CTCTCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1907376811,2
    --49246008(+) TAGATG/TAAGTC 1 -- int10--------
    rs8381481,2
    C,F--49246378(-) tggacC/Tcagga 1 -- int16Minor allele frequency- T:0.19WA CSA NA EA 364
    rs1385734751,2
    --49246487(+) GCTATA/GTTGCC 1 -- int10--------
    rs3729516041,2
    C--49246722(+) ACTTTC/G/TGACAA 3 Q P R mis10--------
    rs1416749291,2
    C--49246810(+) TGTATA/TTGCCC 1 -- int10--------
    rs2020853501,2
    --49246826(+) GGGGCA/GTGGCT 1 -- int10--------
    rs8381471,2
    C,F,O,A,H--49246866(-) GATGAC/TCTGGC 1 -- int125Minor allele frequency- T:0.27EA MN NS NA WA CSA 2217
    rs1830260691,2
    C--49246896(+) CAGACA/GAAGGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for IZUMO1 (49244109 - 49250166 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for IZUMO1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3967n71CNV Loss21882294
    dgv3968n71CNV Loss21882294
    nsv912242CNV Loss21882294
    nsv912244CNV Gain21882294
    nsv912238CNV Gain21882294
    nsv9739CNV Gain+Loss18304495

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609278    OMIM disorders: --

    2 diseases for IZUMO1:    About MalaCards
    male infertility    infertility


    IZUMO1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IZUMO1
    Human Genome Epidemiology (HuGE) Navigator: IZUMO1 (1 document)

    Export disorders for IZUMO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IZUMO1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with IZUMO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs. (PubMed id 15759005)1, 2, 3, 9 Inoue N.... Okabe M. (2005)
    2. Preliminary study on the role of the human IZUMO gene in oocyte- spermatozoa fusion failure. (PubMed id 18082733)1, 2, 4 Granados-Gonzalez V.... Levy R. (2008)
    3. Positive Selection and the Evolution of izumo Genes in Mammals. (PubMed id 22957301)1, 3 Grayson P. and Civetta A. (2012)
    4. Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm. (PubMed id 19658160)1, 3 Ellerman D.A....Primakoff P. (2009)
    5. Putative sperm fusion protein IZUMO and the role of N-glycosylation. (PubMed id 18952059)1, 3 Inoue N....Okabe M. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Genome-wide meta-analysis of observational studies sho ws common genetic variants associated with macronutrient intake. (PubMed id 23636237)1 Tanaka T....Nettleton J.A. (2013)
    8. Presence and incidence of izumo antibodies in sera of immunoinfertile women and men. (PubMed id 23279005)1 Clark S. and Naz R.K. (2013)
    9. Novel locus including FGF21 is associated with dietary macronutrient intake. (PubMed id 23372041)1 Chu A.Y....Qi L. (2013)
    10. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 284359 HGNC: 28539 AceView: RASIP1andMGC34799 Ensembl:ENSG00000182264 euGenes: HUgn284359
    ECgene: IZUMO1 H-InvDB: IZUMO1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IZUMO1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IZUMO1 gene:
    Search GeneIP for patents involving IZUMO1

    GeneCards and IP:
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