IZUMO1R (IZUMO1 receptor, JUNO)

2016-10-01 Affiliation

Identity

HGNC

IZUMO1R

LOCATION

11q21

LOCUSID

390243

ALIAS

FOLR4,FR-delta,Folbp3,JUNO

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 390243
MIM: 615737
HGNC: 32565
Ensembl: ENSG00000183560

Variants:

dbSNP: 390243
ClinVar: 390243
TCGA: ENSG00000183560
COSMIC: IZUMO1R

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000183560	ENST00000328458	A6ND01
ENSG00000183560	ENST00000440961	A6ND01

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Endocytosis	KEGG	ko04144
Endocytosis	KEGG	hsa04144
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteins	REACTOME	R-HSA-163125
Antifolate resistance	KEGG	ko01523
Antifolate resistance	KEGG	hsa01523

References

Pubmed ID	Year	Title
27309808	2016	Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization.
27309818	2016	Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex.
27416963	2016	Structural and functional insights into IZUMO1 recognition by JUNO in mammalian fertilization.
29243140	2018	Mutational analysis of IZUMO1R in women with fertilization failure and polyspermy after in vitro fertilization.
30517645	2019	JUNO, the receptor of sperm IZUMO1, is expressed by the human oocyte and is essential for human fertilisation.

Citation

Dessen P

IZUMO1R (IZUMO1 receptor, JUNO)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56326/izumo1r