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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
External Ids for IZUMO1 Gene
- HGNC: 28539
- Entrez Gene: 284359
- Ensembl: ENSG00000182264
- OMIM: 609278
- UniProtKB: Q8IYV9
Previous GeneCards Identifiers for IZUMO1 Gene
- GC19M053939
- GC19M049244
- GC19M045623
Summaries 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. 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
- HGNC(28539)
- Entrez Gene(284359)
- Ensembl(ENSG00000182264)
- OMIM(609278)
- UniProtKB(Q8IYV9)
- Open Targets Platform(ENSG00000182264)
- Search for IZUMO1 at DataMed
- Search for IZUMO1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IZUMO1
- 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
- chr19:48,740,852-48,746,909
- (GRCh38/hg38)
- Size:
- 6,058 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:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
IZUMO1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
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
- NX_Q8IYV9 (NX_Q8IYV9-1)
- Modification sites at PhosphoSitePlus
Other Protein References for IZUMO1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for IZUMO1
-
Abcam antibodies for IZUMO1
- Invitrogen Antibodies for IZUMO1 (AFLGC-Izumo1)
-
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-
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Protein Products
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Signalway Proteins for IZUMO1
-
Abcam proteins for IZUMO1
Assay Products
- antibodies-online: Show 8 available IZUMO1 Elisa Kits ranked by validation data
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Quality Products:
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
- InterPro:
- Blocks:
-
- Immunoglobulin subtype
- ProtoNet:
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
Q8IYV9UniProtKB/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.
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
| 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 | -- |
Phenotypes for IZUMO1 Gene
- MGI mutant phenotypes for IZUMO1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for IZUMO1:
Animal Models for IZUMO1 Gene
- MGI Knock Outs for IZUMO1:
-
- Izumo1 Izumo1<tm1Osb>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IZUMO1 - Select products 50% OFF >
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for IZUMO1
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for IZUMO1 Gene
Pathways & Interactions for IZUMO1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fertilization |
1.00
1.00
|
|
Pathways by source for IZUMO1 Gene
3 Reactome pathways for IZUMO1 Gene
Interacting Proteins for IZUMO1 Gene
Selected Interacting proteins:
Q8IYV9-IZUM1_HUMAN
ENSP00000327786
for IZUMO1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for IZUMO1
| 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 | -- |
No data available for SIGNOR curated interactions for IZUMO1 Gene
Transcripts for IZUMO1 Gene
mRNA/cDNA for IZUMO1 Gene
- 3 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000332955 1657 nts (view in UCSC)
- ENST00000595517 1016 nts (view in UCSC)
- ENST00000595937 1090 nts (view in UCSC)
- ENST00000597553 2218 nts (view in UCSC)
- ENST00000599871 437 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IZUMO1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for IZUMO1
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for IZUMO1
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| 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
Expression for IZUMO1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
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).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IZUMO1
SOURCE GeneReport for Unigene cluster for IZUMO1 Gene:
Hs.400688mRNA 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(4.3)
Primer Products
-
OriGene qPCR primer pairs for IZUMO1
Gene Expression Assay Products
No data available for 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IZUMO1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IZUMO1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Izumo1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Izumo1 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IZUMO1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IZUMO1 31 |
|
OneToOne |
- Species where no ortholog for IZUMO1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IZUMO1 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs2307019 | - | p.Ala333Val |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IZUMO1 Gene
Disorders for IZUMO1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glaucoma, normal tension |
|
|
Search IZUMO1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for IZUMO1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for IZUMO1 Gene
Publications for IZUMO1 Gene
- 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
- 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 41
- Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex. (PMID: 27309818) Aydin H … Lee JE (Nature 2016) 3 4
- Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization. (PMID: 27309808) Ohto U … Shimizu T (Nature 2016) 3 4
- Positive Selection and the Evolution of izumo Genes in Mammals. (PMID: 22957301) Grayson P … Civetta A (International journal of evolutionary biology 2012) 2 3
ExternalLinks
Products for IZUMO1 Gene
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Sources for IZUMO1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
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