IZUMO1 izumo sperm-oocyte fusion 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IZUMO1provided by HGNC
Official Full Name: izumo sperm-oocyte fusion 1provided by HGNC
Primary source: HGNC:HGNC:28539
See related: Ensembl:ENSG00000182264 MIM:609278; AllianceGenome:HGNC:28539
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OBF; IZUMO
Summary: 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]
Expression: Biased expression in testis (RPKM 5.7), placenta (RPKM 0.3) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48740852..48746909, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51735271..51741330, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49244109..49250166, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction.
Title: Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction.
crystal structures of human IZUMO1 and JUNO in unbound and bound conformations
Title: Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex.
crystal structures of human IZUMO1, JUNO and the IZUMO1-JUNO complex, establishing the structural basis for the IZUMO1-JUNO-mediated sperm-oocyte interaction
Title: Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization.
these findings indicate that human sperm expresses Izumo protein, and the immunoinfertile female sera have circulating isoantibodies against this protein.
Title: Presence and incidence of izumo antibodies in sera of immunoinfertile women and men.
We observed in our populations two combinations of four polymorphisms that appeared to be preferentially linked (CGG-CG and TAA-TT) without any significant difference between different genotype repartitions.
Title: Preliminary study on the role of the human IZUMO gene in oocyte-spermatozoa fusion failure.
Observational study of gene-disease association. (HuGE Navigator)
Title: Preliminary study on the role of the human IZUMO gene in oocyte-spermatozoa fusion failure.
human sperm contain Izumo and addition of the antibody against human Izumo left the sperm unable to fuse with zona-free hamster eggs [Izumo]
Title: The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel locus including FGF21 is associated with dietary macronutrient intake. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FUT1_318 (e-PCR)
- UniSTS:277257

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-152310 (e-PCR)
- UniSTS:177471

D19S596 (e-PCR)
- UniSTS:42586

RH78937 (e-PCR)
- UniSTS:64899

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding involved in heterotypic cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding involved in heterotypic cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IC Inferred by Curator more info	PubMed
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	IDA Inferred from Direct Assay more info	PubMed
involved_in heterotypic cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in heterotypic cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in single fertilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm-egg recognition	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm-egg recognition	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in acrosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in acrosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in acrosomal vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein complex involved in cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: izumo sperm-egg fusion protein 1

Names: izumo sperm-egg fusion 1; oocyte binding/fusion factor; sperm-specific protein Izumo

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001321864.1 → NP_001308793.1 izumo sperm-egg fusion protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC009002

UniProtKB/TrEMBL

B4DX00

Conserved Domains (2) summary

pfam15005
Location:1 → 53

IZUMO; Izumo sperm-egg fusion, Ig domain-associated

pfam16706
Location:57 → 142

Izumo-Ig; Immunoglobulin domain
NM_001321865.1 → NP_001308794.1 izumo sperm-egg fusion protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC009002, AY552609, BC034769, BC050460

UniProtKB/Swiss-Prot

Q8IYV9

Conserved Domains (1) summary

pfam16706
Location:1 → 81

Izumo-Ig; Immunoglobulin domain
NM_182575.3 → NP_872381.2 izumo sperm-egg fusion protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_872381.2

Status: VALIDATED

Source sequence(s)

AC009002, BC034769

Consensus CDS

CCDS12732.1

UniProtKB/Swiss-Prot

Q6Q8P6, Q6Q8P7, Q8IYV9

Related

ENSP00000327786.2, ENST00000332955.7

Conserved Domains (2) summary

pfam15005
Location:21 → 166

IZUMO; Izumo sperm-egg fusion, Ig domain-associated

pfam16706
Location:170 → 255

Izumo-Ig; Immunoglobulin domain