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

Gene ID: 284359, updated on 3-May-2025
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
NEW
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See IZUMO1 in Genome Data Viewer
Location:
19q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48740852..48746909, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51735271..51741330, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49244109..49250166, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene fucosyltransferase 2 (H blood group) Neighboring gene MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49223623-49224568 Neighboring gene Ras interacting protein 1 Neighboring gene uncharacterized LOC124904737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49242120-49242659 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49249661-49250446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49250447-49251232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49254255-49254894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49256100-49256686 Neighboring gene FGF21/FUT1 promoter region Neighboring gene fucosyltransferase 1 (H blood group) Neighboring gene fibroblast growth factor 21

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBI GWAS Catalog

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

Markers

Potential readthrough

Included gene: FUT1

Clone Names

  • FLJ61440, MGC34799

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables receptor ligand 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 IEA
Inferred from Electronic Annotation
more info
 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in binding of sperm to zona pellucida IEA
Inferred from Electronic Annotation
more info
 
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 fusion of sperm to egg plasma membrane involved in single fertilization IEA
Inferred from Electronic Annotation
more info
 
involved_in heterotypic cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in single fertilization IEA
Inferred from Electronic Annotation
more info
 
involved_in sperm-egg recognition IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sperm-egg recognition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sperm-egg recognition IEA
Inferred from Electronic Annotation
more info
 
involved_in sperm-egg recognition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in syncytium formation by plasma membrane fusion 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 IEA
Inferred from Electronic Annotation
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 cytoplasmic vesicle IEA
Inferred from Electronic Annotation
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 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
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
 
Preferred Names
izumo sperm-egg fusion protein 1
Names
izumo sperm-egg fusion 1
oocyte binding/fusion factor
sperm-specific protein Izumo

NEW Try the new Transcript table

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)

  1. NM_001321864.1NP_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:153
    IZUMO; Izumo sperm-egg fusion, Ig domain-associated
    pfam16706
    Location:57142
    Izumo-Ig; Immunoglobulin domain
  2. NM_001321865.1NP_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:181
    Izumo-Ig; Immunoglobulin domain
  3. NM_182575.3NP_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:21166
    IZUMO; Izumo sperm-egg fusion, Ig domain-associated
    pfam16706
    Location:170255
    Izumo-Ig; Immunoglobulin domain

RNA

  1. NR_135832.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AY552610, BC034769, BC050460, HY234566
    Related
    ENST00000595517.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    48740852..48746909 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    51735271..51741330 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)