• Gene id: 284359

Gene Summary

• Gene Symbol: IZUMO1   Gene   UCSC   Ensembl
• Aliases: IZUMO, OBF
• Gene name: izumo sperm-egg fusion 1
• Alternate names: izumo sperm-egg fusion protein 1, oocyte binding/fusion factor, sperm-specific protein Izumo,
• Gene location: 19q13.33 (48746908: 48740887)     Exons: 10     NC_000019.10
• Gene summary(Entrez): 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]
• OMIM: 609278

Protein Summary

• Protein general information: Q8IYV9  
  • Name: Izumo sperm egg fusion protein 1 (Oocyte binding/fusion factor) (OBF) (Sperm specific protein izumo)
  • Length: 350  
  • Mass: 38,930
• Sequence:

  MGPHFTLLCAALAGCLLPAEGCVICDPSVVLALKSLEKDYLPGHLDAKHHKAMMERVENAVKDFQELSLNEDAYM
  GVVDEATLQKGSWSLLKDLKRITDSDVKGDLFVKELFWMLHLQKETFATYVARFQKEAYCPNKCGVMLQTLIWCK
  NCKKEVHACRKSYDCGERNVEVPQMEDMILDCELNWHQASEGLTDYSFYRVWGNNTETLVSKGKEATLTKPMVGP
  EDAGSYRCELGSVNSSPATIINFHVTVLPKMIKEEKPSPNIVTPGEATTESSISLQPLQPEKMLASRLLGLLICG
  SLALITGLTFAIFRRRKVIDFIKSSLFGLGSGAAEQTQVPKEKATDSRQQ

• Structural information:
  • Protein Domains: Ig-like (167-251)
  • Interpro: IPR036179  IPR013783  IPR029389  IPR032699  IPR032700  
  • PDB: 5F4E 5F4T 5F4V 5JK9 5JKC 5JKD 5JKE
  • PDBsum: 5F4E 5F4T 5F4V 5JK9 5JKC 5JKD 5JKE
  • DIP: 62033
  • STRING: ENSP00000327786
• Other Databases: GeneCards:  IZUMO1  Malacards:  IZUMO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002080	acrosomal membrane	IEA	cellular component
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	IC	biological process
GO:0007338	single fertilization	ISS	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IDA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	TAS	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0035036	sperm-egg recognition	ISS	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0002080	acrosomal membrane	IEA	cellular component
GO:0005102	receptor binding	IEA	molecular function
GO:0005102	receptor binding	IEA	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	IC	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007338	single fertilization	ISS	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IEA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IEA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IDA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0035036	sperm-egg recognition	IEA	biological process
GO:0035036	sperm-egg recognition	IEA	biological process
GO:0035036	sperm-egg recognition	ISS	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	IC	biological process
GO:0007338	single fertilization	ISS	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IDA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	TAS	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0035036	sperm-egg recognition	ISS	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function

Diseases

Associated diseases	References
Fertilizing defects	MIK: 17296188
Azoospermia	MIK: 22182811
Male factor infertility	MIK: 18082733
Oligozoospermia	MIK: 22182811
Asthenozoospermia	MIK: 17296188
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Important for spontaneous acrosome reaction	MIK: 24277869
Fertilization failure	MIK: 17296188
Athenozoospermia	MIK: 17296188
Male infertility	MIK: 17296188
Oligozoospermia	MIK: 22182811

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17296188	Male infertility, severe oligozoospermia and/or athenozoospermia, fertilization failure			25 (12 infertile patients with fertilization failure, 13 male infertile patients with severe oligozoospermia and/or athenozoospermia)	Male infertility
22182811	Oligospermia				Male infertility	Lactoferrin Prostatic acid phosphatase Human Zinc-Alpha-2-Glycoprotein Prostate specific antigen Progestagen-associated endometrial protein Kinesin light chain 4 Kinesin light chain 4 Prolactin inducible protein Izumo sperm-egg fusion protein 1
24277869	Important for spontaneous acrosome reaction				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881