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 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 for IZUMO1 Gene
-
Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg. 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. The ligand-receptor interaction probably does not act as a membrane fusogen.
Additional gene information for IZUMO1 Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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:
-
- STAT3
- MyoD
- PPAR-gamma2
- PPAR-gamma1
- ATF
- p300
Regulatory Element Products
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:
-
- 19q13.33 by Entrez Gene
- 19q13.33 by HGNC
- 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:27309818, PubMed:27309808). Monomer, homodimer and homooligomer (By similarity). Interacts with IZUMO1R/JUNO. IZUMO1 and IZUMO1R/JUNO form a complex with 1:1 stoichiometry (PubMed:27309818, PubMed:27309808).
- 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.
- Glycosylation at isoforms=204
- Modification sites at PhosphoSitePlus
Other Protein References for IZUMO1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Abcam antibodies for IZUMO1
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-
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Abcam proteins for IZUMO1
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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:
- ProtoNet:
Suggested Antigen Peptide Sequences for IZUMO1 Gene
- GenScript: Design optimal peptide antigens:
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. Interaction with IZUMO1R/JUNO triggers a conformation change, so that the IZUMO1 extracellular domain assumes an upright conformation.
- Belongs to the Izumo family.
- Domain:
-
- The extracellular domain assumes a distinct boomerang shape when not bound to IZUMO1R/JUNO. Interaction with IZUMO1R/JUNO triggers a conformation change, so that the IZUMO1 extracellular domain assumes an upright conformation.
- 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. 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. The ligand-receptor interaction probably does not act as a membrane fusogen.
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
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-
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Clone Products
- Sino Biological Human cDNA Clone for IZUMO1
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-
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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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IDA | 15759005 |
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:
ENSP00000327786
Q8IYV9-IZUM1_HUMAN
for IZUMO1 Gene via
STRING
IID
UniProtKB
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 | ISS,IEA | -- |
No data available for SIGNOR curated interactions for IZUMO1 Gene
Transcripts for IZUMO1 Gene
mRNA/cDNA for IZUMO1 Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (68) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000599871 437 bps (uc061avv.1)
- ENST00000332955 1621 bps (uc002pkj.3)
- ENST00000595937 1090 bps (uc061avx.1)
- ENST00000595517 1016 bps (uc061avw.1)
- ENST00000597553 2218 bps (uc061avy.1)
Unigene Clusters for IZUMO1 Gene
CRISPR Products
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-
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Clone Products
- Sino Biological Human cDNA Clone for IZUMO1
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-
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| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||
| SP3: | - |
Expression 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:
IZUMO1SOURCE 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). Detectable on sperm surface only after the acrosome reaction.
Evidence on tissue expression from TISSUES for IZUMO1 Gene
- Nervous system(4)
Primer Products
-
OriGene qPCR primer pairs for IZUMO1
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Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | IZUMO1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | IZUMO1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Izumo1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Izumo1 16 34 33 |
|
||
| dog (Canis familiaris) |
Mammalia | IZUMO1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | IZUMO1 34 |
|
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
| 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 |
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 |
|---|---|---|
| hajdu-cheney syndrome |
|
|
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
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 22 58
- 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 44 58
- Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex. (PMID: 27309818) Aydin H … Lee JE (Nature 2016) 3 4 58
- Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization. (PMID: 27309808) Ohto U … Shimizu T (Nature 2016) 3 4 58
- Positive Selection and the Evolution of izumo Genes in Mammals. (PMID: 22957301) Grayson P … Civetta A (International journal of evolutionary biology 2012) 2 3 58
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Sources for IZUMO1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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