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

Gene ID: 284359, updated on 9-Jan-2022

Summary

Official Symbol
IZUMO1provided by HGNC
Official Full Name
izumo sperm-egg fusion 1provided by HGNC
Primary source
HGNC:HGNC:28539
See related
Ensembl:ENSG00000182264 MIM:609278
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
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Genomic context

See IZUMO1 in Genome Data Viewer
Location:
19q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48740852..48746909, complement)
105.20201022 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 MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element Neighboring gene Ras interacting protein 1 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element Neighboring gene fucosyltransferase 1 (H blood group) Neighboring gene FGF21/FUT1 promoter region Neighboring gene fibroblast growth factor 21

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: FUT1

Homology

Clone Names

  • FLJ61440, MGC34799

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
located_in acrosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
izumo sperm-egg fusion protein 1
Names
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)

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

    Status: VALIDATED

    Source sequence(s)
    AC009002
    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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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