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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]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Fertilization |
1.00
1.00
|
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 | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||
SP3: | - |
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 |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2307019 | - | p.Ala333Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
glaucoma, normal tension |
|
|