IZUMO1R IZUMO1 receptor, JUNO [Homo sapiens (human)] - Gene

Summary

Official Symbol: IZUMO1Rprovided by HGNC
Official Full Name: IZUMO1 receptor, JUNOprovided by HGNC
Primary source: HGNC:HGNC:32565
See related: Ensembl:ENSG00000183560 MIM:615737; AllianceGenome:HGNC:32565
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: JUNO; FOLR4; Folbp3; FR-delta
Summary: Enables signaling receptor activity. Predicted to be involved in cell adhesion; fusion of sperm to egg plasma membrane involved in single fertilization; and sperm-egg recognition. Predicted to be located in extracellular region and plasma membrane. Predicted to be anchored component of external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 11q21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (94304580..94308146)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (94311597..94315165)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (94037746..94041312)

Chromosome 11 - NC_000011.10 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.
Study revealed a progressive expression of JUNO according to oocyte maturity and showed that human zona-free oocytes, inseminated in the presence of anti-hJUNO mAb, were not fertilized by human sperm.
Title: JUNO, the receptor of sperm IZUMO1, is expressed by the human oocyte and is essential for human fertilisation.
Juno single nucleotide polymorphisms associated with fertilization failure and polyspermy after in vitro fertilization in women.
Title: Mutational analysis of IZUMO1R in women with fertilization failure and polyspermy after in vitro fertilization.
JUNO interacts with IZUMO1 during sperm binding.
Title: Structural and functional insights into IZUMO1 recognition by JUNO in mammalian fertilization.
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.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables folic acid binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
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	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 external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in microvillus membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sperm-egg fusion protein Juno

Names: IZUMO1 receptor protein JUNO; IZUMO1 receptor, JUNO, FR-delta; folate receptor 4 (delta) homolog; folate receptor 4, delta (putative); folate receptor delta; probable folate receptor delta

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_001199206.4 → NP_001186135.1 sperm-egg fusion protein Juno precursor

See identical proteins and their annotated locations for NP_001186135.1

Status: VALIDATED

Source sequence(s)

AP002784

Consensus CDS

CCDS81615.1

UniProtKB/Swiss-Prot

A6ND01

Related

ENSP00000510041.1, ENST00000687084.1

Conserved Domains (1) summary

pfam03024
Location:27 → 208

Folate_rec; Folate receptor family
NM_001393610.1 → NP_001380539.1 sperm-egg fusion protein Juno precursor

Status: VALIDATED

Source sequence(s)

AP002784

Consensus CDS

CCDS81615.1

UniProtKB/Swiss-Prot

A6ND01

Related

ENSP00000332963.5, ENST00000328458.6

Conserved Domains (1) summary

pfam03024
Location:27 → 208

Folate_rec; Folate receptor family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

94304580..94308146

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

94311597..94315165

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001080486.1: Suppressed sequence

Description

NM_001080486.1: This RefSeq was permanently suppressed because currently there is insufficient human transcript support.