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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 Male Infertility and Niemann-Pick Disease, Type C1. 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:0042802 | identical protein binding | IPI | -- |
GO:0042803 | protein homodimerization activity | ISS | -- |
GO:0086080 | protein binding involved in heterotypic cell-cell adhesion | IBA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002080 | acrosomal membrane | IBA,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 | IBA,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 |
---|---|---|
male infertility |
|
|
niemann-pick disease, type c1 |
|
|