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] See more...

Aliases for IZUMO1 Gene

Aliases for IZUMO1 Gene

  • Izumo Sperm-Egg Fusion 1 2 3 5
  • Oocyte Binding/Fusion Factor 2 3 4
  • Izumo Sperm-Egg Fusion Protein 1 3 4
  • Sperm-Specific Protein Izumo 3 4
  • OBF 3 4
  • IZUMO 3

External Ids for IZUMO1 Gene

Previous GeneCards Identifiers for IZUMO1 Gene

  • GC19M053939
  • GC19M049244
  • GC19M045623

Summaries for IZUMO1 Gene

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 Glaucoma, Normal Tension and Hajdu-Cheney Syndrome. Among its related pathways are Fertilization. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and signaling receptor binding.

UniProtKB/Swiss-Prot Summary for IZUMO1 Gene

  • Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg (PubMed:15759005). The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion (PubMed:15759005). The ligand-receptor interaction probably does not act as a membrane 'fusogen' (PubMed:15759005).

Additional gene information for IZUMO1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IZUMO1 Gene

Genomics for IZUMO1 Gene

GeneHancer (GH) Regulatory Elements for IZUMO1 Gene

Promoters and enhancers for IZUMO1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IZUMO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IZUMO1 gene promoter:
  • ATF
  • MyoD
  • p300
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3

Genomic Locations for IZUMO1 Gene

Genomic Locations for IZUMO1 Gene
chr19:48,740,852-48,747,650
(GRCh38/hg38)
Size:
6,799 bases
Orientation:
Minus strand
chr19:49,244,109-49,250,166
(GRCh37/hg19)
Size:
6,058 bases
Orientation:
Minus strand

Genomic View for IZUMO1 Gene

Genes around IZUMO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IZUMO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IZUMO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IZUMO1 Gene

Proteins for IZUMO1 Gene

  • Protein details for IZUMO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYV9-IZUM1_HUMAN
    Recommended name:
    Izumo sperm-egg fusion protein 1
    Protein Accession:
    Q8IYV9
    Secondary Accessions:
    • Q6Q8P6
    • Q6Q8P7

    Protein attributes for IZUMO1 Gene

    Size:
    350 amino acids
    Molecular mass:
    38930 Da
    Quaternary structure:
    • Monomer (PubMed:27309808, PubMed:27309818). Monomer, homodimer and homooligomer; depending on the context (By similarity). Interacts with IZUMO1R/JUNO. IZUMO1 and IZUMO1R/JUNO form a complex with 1:1 stoichiometry (PubMed:27309808, PubMed:27309818). In gamete recognition, IZUMO1R/JUNO first binds to monomeric IZUMO1 (By similarity). The weak, but specific interaction with IZUMO1R/JUNO induces IZUMO1 homodimerization (By similarity). The process follows a tight binding phase where IZUMO1 bends the entire structure towards the sperm membrane side through a thiol-disulfide exchange reaction (By similarity). The molecule no longer binds to IZUMO1R/JUNO and instead binds to a putative second oocyte receptor (By similarity). Interacts with ACE3 (By similarity).
    Miscellaneous:
    • Izumo is the name of a Japanese shrine to marriage.

    Three dimensional structures from OCA and Proteopedia for IZUMO1 Gene

    Alternative splice isoforms for IZUMO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IZUMO1 Gene

Post-translational modifications for IZUMO1 Gene

  • N-glycosylated. Glycosylation is not essential for fusion and for proper protein trafficking in sperm.
  • Phosphorylated. The cytoplasmic C-terminus is phosphorylated and undergoes phosphorylation changes during epididymal transit.
  • Glycosylation at Asn204
  • Modification sites at PhosphoSitePlus

Other Protein References for IZUMO1 Gene

No data available for DME Specific Peptides for IZUMO1 Gene

Domains & Families for IZUMO1 Gene

Gene Families for IZUMO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for IZUMO1 Gene

Suggested Antigen Peptide Sequences for IZUMO1 Gene

GenScript: Design optimal peptide antigens:
  • Sperm-specific protein izumo (IZUM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYV9

UniProtKB/Swiss-Prot:

IZUM1_HUMAN :
  • The extracellular domain assumes a distinct boomerang shape when not bound to IZUMO1R/JUNO (PubMed:27309818). Interaction with IZUMO1R/JUNO triggers a conformation change, so that the IZUMO1 extracellular domain assumes an upright conformation (PubMed:27309818).
  • Belongs to the Izumo family.
Domain:
  • The extracellular domain assumes a distinct boomerang shape when not bound to IZUMO1R/JUNO (PubMed:27309818). Interaction with IZUMO1R/JUNO triggers a conformation change, so that the IZUMO1 extracellular domain assumes an upright conformation (PubMed:27309818).
  • The cytoplasmic C-terminus region is not essential for fertilization. It is however required for protein stability.
Family:
  • Belongs to the Izumo family.
genes like me logo Genes that share domains with IZUMO1: view

Function for IZUMO1 Gene

Molecular function for IZUMO1 Gene

UniProtKB/Swiss-Prot Function:
Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg (PubMed:15759005). The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion (PubMed:15759005). The ligand-receptor interaction probably does not act as a membrane 'fusogen' (PubMed:15759005).

Phenotypes From GWAS Catalog for IZUMO1 Gene

Gene Ontology (GO) - Molecular Function for IZUMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 24739963
GO:0005515 protein binding IPI 27309808
GO:0042803 protein homodimerization activity ISS --
GO:0086080 protein binding involved in heterotypic cell-cell adhesion ISS --
genes like me logo Genes that share ontologies with IZUMO1: view
genes like me logo Genes that share phenotypes with IZUMO1: view

Animal Models for IZUMO1 Gene

MGI Knock Outs for IZUMO1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IZUMO1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for IZUMO1 Gene

Localization for IZUMO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IZUMO1 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle, acrosome membrane; Single-pass type I membrane protein. Note=Localizes initially to the acrosome membrane of the sperm head (both outer and inner acrosomal membranes) (By similarity). During the acrosome reaction, translocates to the plasma membrane (PubMed:15759005). {ECO:0000250 UniProtKB:Q9D9J7, ECO:0000269 PubMed:15759005}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IZUMO1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for IZUMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002080 acrosomal membrane ISS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA 15759005
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with IZUMO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IZUMO1 Gene

Pathways & Interactions for IZUMO1 Gene

PathCards logo

SuperPathways for IZUMO1 Gene

SuperPathway Contained pathways
1 Fertilization
genes like me logo Genes that share pathways with IZUMO1: view

Pathways by source for IZUMO1 Gene

3 Reactome pathways for IZUMO1 Gene

Gene Ontology (GO) - Biological Process for IZUMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IC 15759005
GO:0007338 single fertilization ISS --
GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization IDA,TAS --
GO:0034113 heterotypic cell-cell adhesion ISS --
GO:0035036 sperm-egg recognition IEA,ISS --
genes like me logo Genes that share ontologies with IZUMO1: view

No data available for SIGNOR curated interactions for IZUMO1 Gene

Drugs & Compounds for IZUMO1 Gene

No Compound Related Data Available

Transcripts for IZUMO1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IZUMO1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IZUMO1 Gene

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

Relevant External Links for IZUMO1 Gene

GeneLoc Exon Structure for
IZUMO1
ECgene alternative splicing isoforms for
IZUMO1

Expression for IZUMO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IZUMO1 Gene

mRNA differential expression in normal tissues according to GTEx for IZUMO1 Gene

This gene is overexpressed in Testis (x24.3), Pancreas (x7.4), and Stomach (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of IZUMO1 Gene:

IZUMO1

SOURCE GeneReport for Unigene cluster for IZUMO1 Gene:

Hs.400688

mRNA Expression by UniProt/SwissProt for IZUMO1 Gene:

Q8IYV9-IZUM1_HUMAN
Tissue specificity: Sperm-specific (at protein level) (PubMed:15759005). Detectable on sperm surface only after the acrosome reaction (PubMed:15759005).

Evidence on tissue expression from TISSUES for IZUMO1 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with IZUMO1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for IZUMO1 Gene

Orthologs for IZUMO1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for IZUMO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IZUMO1 33 32
  • 99.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IZUMO1 33 32
  • 77.38 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Izumo1 32
  • 69.35 (n)
mouse
(Mus musculus)
Mammalia Izumo1 17 33 32
  • 65.13 (n)
dog
(Canis familiaris)
Mammalia IZUMO1 33
  • 44 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 41 (a)
OneToMany
-- 33
  • 31 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia IZUMO1 33
  • 31 (a)
OneToOne
Species where no ortholog for IZUMO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IZUMO1 Gene

ENSEMBL:
Gene Tree for IZUMO1 (if available)
TreeFam:
Gene Tree for IZUMO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IZUMO1: view image

Paralogs for IZUMO1 Gene

No data available for Paralogs for IZUMO1 Gene

Variants for IZUMO1 Gene

Sequence variations from dbSNP and Humsavar for IZUMO1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000099034 -- 48,748,486(-) T/C upstream_transcript_variant
rs1000154500 -- 48,742,383(-) T/G intron_variant
rs1000302332 -- 48,748,251(-) G/A upstream_transcript_variant
rs1000330236 -- 48,748,481(-) C/T upstream_transcript_variant
rs1001275986 -- 48,740,742(-) T/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IZUMO1 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV gain+loss 18304495

Variation tolerance for IZUMO1 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IZUMO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IZUMO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IZUMO1 Gene

Disorders for IZUMO1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IZUMO1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
hajdu-cheney syndrome
  • hjcys
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for IZUMO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IZUMO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IZUMO1 Gene

Publications for IZUMO1 Gene

  1. The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs. (PMID: 15759005) Inoue N … Okabe M (Nature 2005) 2 3 4 23 56
  2. Preliminary study on the role of the human IZUMO gene in oocyte-spermatozoa fusion failure. (PMID: 18082733) Granados-Gonzalez V … Levy R (Fertility and sterility 2008) 3 4 43 56
  3. Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization. (PMID: 27309808) Ohto U … Shimizu T (Nature 2016) 3 4 56
  4. Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex. (PMID: 27309818) Aydin H … Lee JE (Nature 2016) 3 4 56
  5. Positive Selection and the Evolution of izumo Genes in Mammals. (PMID: 22957301) Grayson P … Civetta A (International journal of evolutionary biology 2012) 2 3 56

Products for IZUMO1 Gene

Sources for IZUMO1 Gene