IZUMO1 Gene
protein-coding GIFtS: 45
GCID: GC19M049244
|
|
izumo sperm-egg fusion 1
| |
Aliases
for IZUMO1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Izumo Sperm-Egg Fusion 11 2 | | OBF2 3 | | IZUMO1 2 | | MGC347991 | | Oocyte Binding/Fusion Factor2 3 | | Izumo Sperm-Egg Fusion Protein 12 | | Sperm-Specific Protein Izumo2 3 | | |
Export aliases for IZUMO1 gene to outside databasesPrevious GC identifers: GC19M053939 GC19M045623 |
Summaries
for IZUMO1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for IZUMO1:
The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasmamembrane binding and fusion (Inoue et al., 2005 (PubMed 15759005)).(supplied by OMIM, Mar 2008)
UniProtKB/Swiss-Prot: IZUM1_HUMAN, Q8IYV9Function: Involved in the fertilization process. May be involved in the fusion of the sperm with the egg
|
Genomic Views
for IZUMO1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the IZUMO1 gene promoter:
PPAR-gamma1 p300 MyoD STAT3 PPAR-gamma2 ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for IZUMO1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IZUMO1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.33 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33IZUMO1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M049244: view genomic region
(about GC identifiers)
Start:
|
49,244,145 bp from pter |
End:
|
49,250,166 bp from pter |
Size:
|
6,022 bases |
Orientation:
|
minus strand |
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Proteins
for IZUMO1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: IZUM1_HUMAN, Q8IYV9 (See
protein sequence)Recommended Name: Izumo sperm-egg fusion protein 1 precursor Size: 350 amino acids; 38930 Da
Subunit: Monomer, homodimer and homooligomer (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Miscellaneous: Izumo is the name of a Japanese shrine to marriage
Secondary accessions: Q6Q8P6 Q6Q8P7Alternative splicing: 3 isoforms: Q8IYV9-1 Q8IYV9-2 Q8IYV9-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for IZUMO1: NX_Q8IYV9
Post-translational modifications:
N-glycosylated. Glycosylation is not essential for fusion and for proper protein trafficking in sperm (By similarity)1
Phosphorylated (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IYV9
IZUMO1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_872381.2
ENSEMBL proteins: ENSP00000327786
Human Recombinant Protein Products for IZUMO1:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
IZUMO1 for ontologies About GeneDecksing
IZUMO1 Antibody Products:
Assay Products for IZUMO1: |
Protein
Domains /
Families
for IZUMO1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
IZUMO1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8IYV9ProtoNet protein and cluster: Q8IYV9 1 Blocks protein family: IPB003599 Immunoglobulin subtype
UniProtKB/Swiss-Prot: IZUM1_HUMAN, Q8IYV9Similarity: Belongs to the Izumo familySimilarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain |
Function
for IZUMO1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: IZUM1_HUMAN, Q8IYV9Function: Involved in the fertilization process. May be involved in the fusion of the sperm with the egg Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0042803 | protein homodimerization activity |
ISS | -- |
IZUMO1 for ontologies About GeneDecksing
Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Izumo1):
IZUMO1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Izumo1tm1Osb for IZUMO1
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IZUMO1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IZUMO1 |
|
Pathways & Interactions
for IZUMO1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IZUMO1
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
IZUMO1 for ontologies About GeneDecksing
|
Drugs & Compounds
for IZUMO1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for IZUMO1
Search CenterWatch for drugs/clinical trials and news about IZUMO1 / IZUM1
|
Transcripts
for IZUMO1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for IZUMO1 gene: NM_182575.2 Unigene Cluster for IZUMO1: Izumo sperm-egg fusion 1 Hs.400688 [show with all ESTs]Unigene Representative Sequence: AK3017501 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000332955(uc010eme.3 uc010emf.3 uc002pkj.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IZUMO1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IZUMO1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: IZUMO1 (NM_182575) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IZUMO1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IZUMO1 |
Additional cDNA sequence: AB195682.1 AK301750.1 AY552609.1 AY552610.1 BC034769.1 5 DOTS entries: DT.97790052 DT.102826248 DT.99963967 DT.121466017 DT.95187831 24/68 AceView cDNA sequences (see all 68): AI143393 BX089325 BE856162 BM906443 BF197429 BM694838 AW969501 BF516076 NM_017805 AI241453 CR608210 AK000408 AK123179 AA503542 BC021860 AW772163 R80760 AI018800 AA383135 AL556313 AI928221 BI822309 AI808410 BM993355
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for IZUMO1 About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | |
| SP2: | | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for IZUMO1
|
Expression
for IZUMO1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| IZUMO1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGGGTCCAG
About this image
See IZUMO1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IZUMO1
SOURCE GeneReport for Unigene cluster: Hs.400688
UniProtKB/Swiss-Prot: IZUM1_HUMAN, Q8IYV9Tissue specificity: Sperm-specific (at protein level). Detectable on sperm surface only after the acrosome reaction
SABiosciences Custom PCR Arrays for IZUMO1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IZUMO1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IZUMO1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IZUMO1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IZUMO1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IZUMO1 |
Orthologs
for IZUMO1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for IZUMO1 gene from 2/7 species (see all 7) About this table
ENSEMBL Gene Tree for IZUMO1 (if available)
TreeFam Gene Tree for IZUMO1 (if available) |
Paralogs
for IZUMO1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for IZUMO1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for IZUMO1 (49244145 - 49250166 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for IZUMO1
1 CNV: 32261 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IZUMO1 |
|
Disorders
/ Diseases
for IZUMO1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
IZUMO1 for disorders About GeneDecksing
OMIM gene information: 609278
OMIM disorders: --
2  diseases for IZUMO1: About MalaCardsmale infertility infertility
Human Genome Epidemiology (HuGE) Navigator: IZUMO1 (1 document)
Export disorders for IZUMO1 gene to outside databases
|
Publications
for IZUMO1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for IZUMO1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with IZUMO1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs. (PubMed id 15759005)1, 2, 3, 9 Inoue N.... Okabe M. (2005)
- Positive Selection and the Evolution of izumo Genes in Mammals. (PubMed id 22957301)1, 3 Grayson P. and Civetta A. (2012)
- Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm. (PubMed id 19658160)1, 3 Ellerman D.A....Primakoff P. (2009)
- Putative sperm fusion protein IZUMO and the role of N-glycosylation. (PubMed id 18952059)1, 3 Inoue N....Okabe M. (2008)
- Preliminary study on the role of the human IZUMO gene in oocyte- spermatozoa fusion failure. (PubMed id 18082733)1, 2 Granados-Gonzalez V.... Levy R. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Large-scale genome-wide association analysis of bipol ar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 Sklar P....Purcell S.M. (2011)
- Four novel Loci (19q13, 6q24, 12q24, and 5q14) influe nce the microcirculation in vivo. (PubMed id 21060863)1 Ikram M.K....Wong T.Y. (2010)
- Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. (PubMed id 17047026)1 Yatsenko A.N....Matzuk M.M. (2006)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
|
External Searches for IZUMO1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing IZUMO1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing IZUMO1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing IZUMO1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for IZUMO1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for IZUMO1 gene:
Search GeneIP for patents involving IZUMO1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for IZUMO1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IZUMO1 |
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