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Aliases for IZUMO1 Gene

Aliases for IZUMO1 Gene

  • Izumo Sperm-Egg Fusion 1 2 3 5
  • Oocyte Binding/Fusion Factor 2 3 4
  • Sperm-Specific Protein Izumo 3 4
  • OBF 3 4
  • Izumo Sperm-Egg Fusion Protein 1 3
  • 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 Borderline Glaucoma and Hajdu-Cheney Syndrome. Among its related pathways are Reproduction. GO annotations related to this gene include protein homodimerization activity and 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IZUMO1 Gene

Genomics for IZUMO1 Gene

Regulatory Elements for IZUMO1 Gene

Enhancers for IZUMO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F048712 1.1 ENCODE 35.3 +30.4 30358 8.6 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FUT2 IZUMO1 TEAD2 RASIP1 PLEKHA4 KDELR1 ENSG00000268157 ENSG00000197813 RRAS GRWD1
GH19F048745 1.1 Ensembl ENCODE 26 +2.2 2249 0.4 CREB3L1 ZFP64 ZNF76 DEAF1 ETS1 SMARCC2 ZNF143 CREM THAP11 SP3 FUT2 IZUMO1 TEAD2 PLEKHA4 KDELR1 PRR12 ENSG00000268157 ENSG00000197813 RRAS GRWD1
GH19F048958 1.7 FANTOM5 ENCODE 16.7 -216.4 -216380 10.2 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ENSG00000269321 NUP62 PRR12 TEAD2 PPP1R15A RUVBL2 KDELR1 PIH1D1 GRWD1 ENSG00000268157
GH19F048736 1 ENCODE 27.1 +8.1 8067 5.5 HDGF ATF1 PKNOX1 CREB3L1 SIN3A ZNF48 ZNF121 GLIS2 GATA2 ZNF143 FUT2 IZUMO1 DBP SEC1P PRR12 RASIP1 MAMSTR
GH19F048746 1 ENCODE 27 +0.4 427 1.9 PKNOX1 ATF1 ARNT CREB3L1 ZNF133 YY1 ETS1 ZNF121 GLIS2 ELK1 FUT2 IZUMO1 TEAD2 GRWD1 PLEKHA4 KDELR1 ENSG00000268157 ENSG00000197813 RRAS SNORD35A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IZUMO1 on UCSC Golden Path with GeneCards custom track

Promoters for IZUMO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001404633 550 1001 TBP PKNOX1 ATF1 CREB3L1 ZNF133 ZNF76 DEAF1 YY1 ETS1 ZNF121

Genomic Location for IZUMO1 Gene

Chromosome:
19
Start:
48,740,852 bp from pter
End:
48,747,650 bp from pter
Size:
6,799 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: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

    Alternative splice isoforms for IZUMO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IZUMO1 Gene

Post-translational modifications for IZUMO1 Gene

No data available for DME Specific Peptides for IZUMO1 Gene

Domains & Families for IZUMO1 Gene

Gene Families for IZUMO1 Gene

Protein Domains for IZUMO1 Gene

Suggested Antigen Peptide Sequences for IZUMO1 Gene

GenScript: Design optimal peptide antigens:

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. 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.
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
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. 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.

Gene Ontology (GO) - Molecular Function for IZUMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 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

Phenotypes for IZUMO1 Gene

genes like me logo Genes that share phenotypes with IZUMO1: view

Animal Models for IZUMO1 Gene

MGI Knock Outs for IZUMO1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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.

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 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for IZUMO1 Gene

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

Pathways & Interactions for IZUMO1 Gene

SuperPathways for IZUMO1 Gene

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

Pathways by source for IZUMO1 Gene

3 Reactome pathways for IZUMO1 Gene

Interacting Proteins for IZUMO1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000327786%0d%0a9606.ENSP00000009180%0d%0a
Selected Interacting proteins: ENSP00000327786 Q8IYV9-IZUM1_HUMAN for IZUMO1 Gene via STRING IID

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 TAS --
GO:0034113 heterotypic cell-cell adhesion ISS --
GO:0035036 sperm-egg recognition ISS --
genes like me logo Genes that share ontologies with IZUMO1: view

No data available for SIGNOR curated interactions for IZUMO1 Gene

Transcripts for IZUMO1 Gene

Unigene Clusters for IZUMO1 Gene

Izumo sperm-egg fusion 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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). Detectable on sperm surface only after the acrosome reaction.
genes like me logo Genes that share expression patterns with IZUMO1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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 34 35
  • 99.24 (n)
cow
(Bos Taurus)
Mammalia IZUMO1 34 35
  • 77.38 (n)
rat
(Rattus norvegicus)
Mammalia Izumo1 34
  • 69.35 (n)
mouse
(Mus musculus)
Mammalia Izumo1 34 16 35
  • 65.13 (n)
dog
(Canis familiaris)
Mammalia IZUMO1 35
  • 44 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 41 (a)
OneToMany
-- 35
  • 31 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia IZUMO1 35
  • 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)

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 Sequence Context AA Info Type
rs11083948 -- 48,744,863(+) TATAC(A/G)TATGT intron-variant
rs112035565 -- 48,742,834(+) GCAAT(G/T)CTCTG intron-variant
rs112625145 -- 48,744,492(+) GGTTT(C/T)CTTTT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs112707747 -- 48,748,278(+) CTGGG(A/T)CCAGG intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs112786436 -- 48,744,756(+) ATCGT(A/G)GCTCA intron-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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
borderline glaucoma
  • preglaucoma
hajdu-cheney syndrome
  • acroosteolysis with osteoporosis and changes in skull and mandible
glaucoma 1, open angle, e
  • primary open angle glaucoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for IZUMO1

Genetic Association Database (GAD)
IZUMO1
Human Genome Epidemiology (HuGE) Navigator
IZUMO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IZUMO1
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 22 64
  2. Preliminary study on the role of the human IZUMO gene in oocyte- spermatozoa fusion failure. (PMID: 18082733) Granados-Gonzalez V. … Levy R. (Fertil. Steril. 2008) 3 4 46 64
  3. Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization. (PMID: 27309808) Ohto U. … Shimizu T. (Nature 2016) 3 4 64
  4. Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex. (PMID: 27309818) Aydin H. … Lee J.E. (Nature 2016) 3 4 64
  5. Positive Selection and the Evolution of izumo Genes in Mammals. (PMID: 22957301) Grayson P. … Civetta A. (Int J Evol Biol 2012) 2 3 64

Products for IZUMO1 Gene

Sources for IZUMO1 Gene

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