IZUMO1 (original) (raw)

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Protein-coding gene in the species Homo sapiens

IZUMO1
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes5JKD, 5F4T, 5JKC, 5JK9, 5JKE, 5F4V, 5F4E
Identifiers
Aliases	IZUMO1, IZUMO, OBF, izumo sperm-egg fusion 1
External IDs	OMIM: 609278; MGI: 1920706; HomoloGene: 77701; GeneCards: IZUMO1; OMA:IZUMO1 - orthologs
Gene location (Human)Chr.Chromosome 19 (human)[1]Band19q13.33Start48,740,852 bp[1]End48,746,909 bp[1]
Gene location (Mouse)Chr.Chromosome 7 (mouse)[2]Band7|7 B3Start45,621,811 bp[2]End45,628,823 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright testisleft testisspermbody of pancreasupper lobe of left lungright hemisphere of cerebellumbody of stomachright adrenal cortexright lungapex of heartTop expressed inspermatidseminiferous tubulespermatocyteembryoblastocystembryoyolk sacepiblastlipesophagusMore reference expression dataBioGPSn/a
Gene ontologyMolecular function signaling receptor binding protein homodimerization activity protein binding identical protein binding protein binding involved in heterotypic cell-cell adhesion Cellular component membrane integral component of membrane plasma membrane acrosomal membrane cytoplasmic vesicle Biological process cell adhesion sperm-egg recognition single fertilization fusion of sperm to egg plasma membrane involved in single fertilization heterotypic cell-cell adhesion Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez28435973456EnsemblENSG00000182264ENSMUSG00000064158UniProtQ8IYV9Q9D9J7RefSeq (mRNA)NM_182575NM_001321864NM_001321865NM_001018013RefSeq (protein)NP_001308793NP_001308794NP_872381NP_001018013Location (UCSC)Chr 19: 48.74 – 48.75 MbChr 7: 45.62 – 45.63 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Izumo sperm-egg fusion protein 1 (Sperm-specific protein izumo) is encoded in humans by the IZUMO1 gene.[5] In mammalian fertilisation, IZUMO1 binds to its egg receptor counterpart, Juno, to facilitate recognition and fusion of the gametes. [6]

The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion.[7]

Studies have shown that male Izumo knockout mice are sterile because their sperm are unable to fuse to the oocyte membrane.[1] Izumo -/- mice produced morphologically normal sperm that were able to penetrate the zona pellucida, but could not fuse with to the eggs. In fact, it is necessary to relocate the IZUMO1 to the site of oocyte fusion.[8] In-vitro human experiments have also been conducted, suggesting that Izumo is required for human gamete fusion. [1]

Through the use of Western Blot analyses, it has been shown that Izumo is only expressed in the testis and is found on mature spermatozoa. [9] Izumo-1 located on mature spermatozoa that have undergone capacitation binds to its receptor Juno, which is located on the oolemma of eggs. [10]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182264 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064158 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: Izumo sperm-egg fusion 1".
6. ^ Bianchi, Enrica, et al. "Juno is the egg Izumo receptor and is essential for mammalian fertilization." Nature 508.7497 (2014): 483.
7. ^ Inoue N, Ikawa M, Isotani A, Okabe M (2005). "The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs". Nature. 434 (7030): 234–8. Bibcode:2005Natur.434..234I. doi:10.1038/nature03362. PMID 15759005. S2CID 4402928.
8. ^ Ikawa, M., Inoue, N., Benham, A. M., & Okabe, M. (2010). Fertilization: a sperm's journey to and interaction with the oocyte. The Journal of clinical investigation, 120(4), 984-94.
9. ^ Ellerman DA, Pei J, Gupta S, Snell WJ, Myles D, Primakoff P. Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm. Molecular reproduction and development. 2009;76(12):1188-1199.
10. ^ Bianchi E, Doe B, Goulding D, Sanger Mouse Genetics Project, Wright GJ. Juno is the egg Izumo receptor and is essential for mammalian fertilisation. Nature. 2014;508(7497):483-487.

• Chu AY, Workalemahu T, Paynter NP, Rose LM, Giulianini F, Tanaka T, Ngwa JS, Qi Q, Curhan GC, Rimm EB, Hunter DJ, Pasquale LR, Ridker PM, Hu FB, Chasman DI, Qi L (2013). "Novel locus including FGF21 is associated with dietary macronutrient intake". Human Molecular Genetics. 22 (9): 1895–902. doi:10.1093/hmg/ddt032. PMC 3612009. PMID 23372041.
• Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ, Yan W, Lamb DJ, Matzuk MM (2006). "Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization". Human Molecular Genetics. 15 (23): 3411–9. doi:10.1093/hmg/ddl417. PMID 17047026.
• Granados-Gonzalez V, Aknin-Seifer I, Touraine RL, Chouteau J, Wolf JP, Levy R (2008). "Preliminary study on the role of the human IZUMO gene in oocyte-spermatozoa fusion failure". Fertility and Sterility. 90 (4): 1246–8. doi:10.1016/j.fertnstert.2007.09.008. PMID 18082733.
• Ellerman DA, Pei J, Gupta S, Snell WJ, Myles D, Primakoff P (2009). "Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm". Molecular Reproduction and Development. 76 (12): 1188–99. doi:10.1002/mrd.21092. PMC 3779078. PMID 19658160.
• Grayson P, Civetta A (2012). "Positive Selection and the Evolution of izumo Genes in Mammals". International Journal of Evolutionary Biology. 2012: 958164. doi:10.1155/2012/958164. PMC 3432370. PMID 22957301.
• Inoue N, Ikawa M, Okabe M (2008). "Putative sperm fusion protein IZUMO and the role of N-glycosylation". Biochemical and Biophysical Research Communications. 377 (3): 910–4. doi:10.1016/j.bbrc.2008.10.073. PMID 18952059.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.