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Protein

Izumo sperm-egg fusion protein 1

Gene

IZUMO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'.1 Publication

GO - Molecular functioni

GO - Biological processi

  • cell adhesion Source: HGNC
  • fusion of sperm to egg plasma membrane Source: HGNC
  • heterotypic cell-cell adhesion Source: UniProtKB
  • single fertilization Source: UniProtKB
  • sperm-egg recognition Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Fertilization

Enzyme and pathway databases

BioCyciZFISH:G66-31141-MONOMER.
ReactomeiR-HSA-1300652. Sperm:Oocyte Membrane Binding.

Protein family/group databases

TCDBi8.A.55.1.1. the izumo sperm-egg fusion protein 1 (izumo1) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Izumo sperm-egg fusion protein 1
Alternative name(s):
Oocyte binding/fusion factor
Short name:
OBF
Sperm-specific protein izumo
Gene namesi
Name:IZUMO1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:28539. IZUMO1.

Subcellular locationi

  • Cell membrane By similarity; Single-pass type I membrane protein By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 292ExtracellularSequence analysisAdd BLAST271
Transmembranei293 – 313HelicalSequence analysisAdd BLAST21
Topological domaini314 – 350CytoplasmicSequence analysisAdd BLAST37

GO - Cellular componenti

  • acrosomal membrane Source: Ensembl
  • integral component of membrane Source: HGNC
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi71E → A or K: Mildly decreases interaction with IZUMO1R. 1 Publication1
Mutagenesisi148W → A: Abolishes interaction with IZUMO1R. 1 Publication1
Mutagenesisi157H → A: Nearly abolishes interaction with IZUMO1R. 1 Publication1
Mutagenesisi160R → A or E: Nearly abolishes interaction with IZUMO1R. 1 Publication1

Organism-specific databases

DisGeNETi284359.
OpenTargetsiENSG00000182264.
PharmGKBiPA142671647.

Polymorphism and mutation databases

BioMutaiIZUMO1.
DMDMi296434545.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000004548222 – 350Izumo sperm-egg fusion protein 1Add BLAST329

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi22 ↔ 149Combined sources2 Publications
Disulfide bondi25 ↔ 152Combined sources2 Publications
Disulfide bondi135 ↔ 159Combined sources2 Publications
Disulfide bondi139 ↔ 165Combined sources2 Publications
Disulfide bondi182 ↔ 233PROSITE-ProRule annotationCombined sources2 Publications
Glycosylationi204N-linked (GlcNAc...)Sequence analysis1
Modified residuei325PhosphoserineBy similarity1

Post-translational modificationi

N-glycosylated. Glycosylation is not essential for fusion and for proper protein trafficking in sperm.By similarity
Phosphorylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ8IYV9.
PeptideAtlasiQ8IYV9.
PRIDEiQ8IYV9.

PTM databases

iPTMnetiQ8IYV9.
PhosphoSitePlusiQ8IYV9.

Expressioni

Tissue specificityi

Sperm-specific (at protein level). Detectable on sperm surface only after the acrosome reaction.1 Publication

Gene expression databases

BgeeiENSG00000182264.
CleanExiHS_IZUMO1.
ExpressionAtlasiQ8IYV9. baseline and differential.
GenevisibleiQ8IYV9. HS.

Organism-specific databases

HPAiHPA038104.

Interactioni

Subunit structurei

Monomer (PubMed:27309818, PubMed:27309808). Monomer, homodimer and homooligomer (By similarity). Interacts with IZUMO1R/JUNO. IZUMO1 and IZUMO1R/JUNO form a complex with 1:1 stoichiometry (PubMed:27309818, PubMed:27309808).By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi129843. 20 interactors.
DIPiDIP-62033N.
STRINGi9606.ENSP00000327786.

Structurei

Secondary structure

1350
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi22 – 25Combined sources4
Helixi27 – 39Combined sources13
Helixi41 – 44Combined sources4
Helixi47 – 49Combined sources3
Helixi50 – 62Combined sources13
Helixi63 – 65Combined sources3
Turni66 – 69Combined sources4
Beta strandi70 – 72Combined sources3
Beta strandi76 – 78Combined sources3
Helixi80 – 99Combined sources20
Helixi104 – 132Combined sources29
Beta strandi138 – 148Combined sources11
Turni149 – 151Combined sources3
Beta strandi154 – 160Combined sources7
Beta strandi162 – 164Combined sources3
Beta strandi168 – 173Combined sources6
Beta strandi178 – 181Combined sources4
Helixi187 – 189Combined sources3
Beta strandi191 – 201Combined sources11
Beta strandi203 – 205Combined sources3
Beta strandi207 – 214Combined sources8
Beta strandi216 – 222Combined sources7
Helixi225 – 227Combined sources3
Beta strandi229 – 241Combined sources13
Beta strandi243 – 253Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5F4EX-ray2.40A22-254[»]
5F4TX-ray3.08A22-254[»]
5F4VX-ray2.90A22-268[»]
5JK9X-ray2.10A/B/C/D/E/F22-255[»]
5JKCX-ray2.90A22-255[»]
5JKDX-ray2.90A22-255[»]
5JKEX-ray2.86A/C22-255[»]
ProteinModelPortaliQ8IYV9.
SMRiQ8IYV9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini167 – 251Ig-like C2-typePROSITE-ProRule annotationAdd BLAST85

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni148 – 160Important for interaction with IZUMO1R1 PublicationAdd BLAST13

Domaini

The extracellular domain assumes a distinct boomerang shape when not bound to IZUMO1R/JUNO. Interaction with IZUMO1R/JUNO triggers a conformation change, so that the IZUMO1 extracellular domain assumes an upright conformation.1 Publication

Sequence similaritiesi

Belongs to the Izumo family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHEV. Eukaryota.
ENOG410Z8SJ. LUCA.
GeneTreeiENSGT00390000015014.
HOGENOMiHOG000113123.
HOVERGENiHBG081812.
InParanoidiQ8IYV9.
OMAiKEVHACR.
OrthoDBiEOG091G0AHL.
PhylomeDBiQ8IYV9.
TreeFamiTF338356.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR029389. IZUMO.
IPR032699. Izumo-Ig.
IPR032700. IZUMO1.
[Graphical view]
PANTHERiPTHR35540:SF1. PTHR35540:SF1. 1 hit.
PfamiPF15005. IZUMO. 1 hit.
PF16706. Izumo-Ig. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IYV9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGPHFTLLCA ALAGCLLPAE GCVICDPSVV LALKSLEKDY LPGHLDAKHH
60 70 80 90 100
KAMMERVENA VKDFQELSLN EDAYMGVVDE ATLQKGSWSL LKDLKRITDS
110 120 130 140 150
DVKGDLFVKE LFWMLHLQKE TFATYVARFQ KEAYCPNKCG VMLQTLIWCK
160 170 180 190 200
NCKKEVHACR KSYDCGERNV EVPQMEDMIL DCELNWHQAS EGLTDYSFYR
210 220 230 240 250
VWGNNTETLV SKGKEATLTK PMVGPEDAGS YRCELGSVNS SPATIINFHV
260 270 280 290 300
TVLPKMIKEE KPSPNIVTPG EATTESSISL QPLQPEKMLA SRLLGLLICG
310 320 330 340 350
SLALITGLTF AIFRRRKVID FIKSSLFGLG SGAAEQTQVP KEKATDSRQQ
Length:350
Mass (Da):38,930
Last modified:May 18, 2010 - v2
Checksum:i8741BB3F93ABCFA9
GO
Isoform 2 (identifier: Q8IYV9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     167-194: ERNVEVPQMEDMILDCELNWHQASEGLT → GERTGPSRRNWCRAECGSSSNGRHDPGL
     195-350: Missing.

Note: No experimental confirmation available.
Show »
Length:194
Mass (Da):21,758
Checksum:i9D56F3FC6B308080
GO
Isoform 3 (identifier: Q8IYV9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     57-68: VENAVKDFQELS → MRPHCKRGPGVC
     69-350: Missing.

Note: No experimental confirmation available.
Show »
Length:68
Mass (Da):7,339
Checksum:iA637C1EEBC33D4FE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti36L → P in AAS59145 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055399333A → V.3 PublicationsCorresponds to variant rs2307019dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01696057 – 68VENAV…FQELS → MRPHCKRGPGVC in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_01696169 – 350Missing in isoform 3. 1 PublicationAdd BLAST282
Alternative sequenceiVSP_016962167 – 194ERNVE…SEGLT → GERTGPSRRNWCRAECGSSS NGRHDPGL in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_016963195 – 350Missing in isoform 2. 1 PublicationAdd BLAST156

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB195682 mRNA. Translation: BAD91012.1.
AY552609 mRNA. Translation: AAS59145.1.
AY552610 mRNA. Translation: AAS59146.1.
AC009002 Genomic DNA. No translation available.
BC034769 mRNA. Translation: AAH34769.1.
CCDSiCCDS12732.1. [Q8IYV9-1]
RefSeqiNP_001308794.1. NM_001321865.1.
NP_872381.2. NM_182575.2. [Q8IYV9-1]
XP_011525114.1. XM_011526812.2. [Q8IYV9-1]
XP_011525115.1. XM_011526813.2. [Q8IYV9-1]
UniGeneiHs.400688.

Genome annotation databases

EnsembliENST00000332955; ENSP00000327786; ENSG00000182264. [Q8IYV9-1]
ENST00000595517; ENSP00000471815; ENSG00000182264. [Q8IYV9-3]
ENST00000595937; ENSP00000470144; ENSG00000182264. [Q8IYV9-2]
GeneIDi284359.
KEGGihsa:284359.
UCSCiuc002pkj.3. human. [Q8IYV9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB195682 mRNA. Translation: BAD91012.1.
AY552609 mRNA. Translation: AAS59145.1.
AY552610 mRNA. Translation: AAS59146.1.
AC009002 Genomic DNA. No translation available.
BC034769 mRNA. Translation: AAH34769.1.
CCDSiCCDS12732.1. [Q8IYV9-1]
RefSeqiNP_001308794.1. NM_001321865.1.
NP_872381.2. NM_182575.2. [Q8IYV9-1]
XP_011525114.1. XM_011526812.2. [Q8IYV9-1]
XP_011525115.1. XM_011526813.2. [Q8IYV9-1]
UniGeneiHs.400688.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5F4EX-ray2.40A22-254[»]
5F4TX-ray3.08A22-254[»]
5F4VX-ray2.90A22-268[»]
5JK9X-ray2.10A/B/C/D/E/F22-255[»]
5JKCX-ray2.90A22-255[»]
5JKDX-ray2.90A22-255[»]
5JKEX-ray2.86A/C22-255[»]
ProteinModelPortaliQ8IYV9.
SMRiQ8IYV9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129843. 20 interactors.
DIPiDIP-62033N.
STRINGi9606.ENSP00000327786.

Protein family/group databases

TCDBi8.A.55.1.1. the izumo sperm-egg fusion protein 1 (izumo1) family.

PTM databases

iPTMnetiQ8IYV9.
PhosphoSitePlusiQ8IYV9.

Polymorphism and mutation databases

BioMutaiIZUMO1.
DMDMi296434545.

Proteomic databases

PaxDbiQ8IYV9.
PeptideAtlasiQ8IYV9.
PRIDEiQ8IYV9.

Protocols and materials databases

DNASUi284359.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332955; ENSP00000327786; ENSG00000182264. [Q8IYV9-1]
ENST00000595517; ENSP00000471815; ENSG00000182264. [Q8IYV9-3]
ENST00000595937; ENSP00000470144; ENSG00000182264. [Q8IYV9-2]
GeneIDi284359.
KEGGihsa:284359.
UCSCiuc002pkj.3. human. [Q8IYV9-1]

Organism-specific databases

CTDi284359.
DisGeNETi284359.
GeneCardsiIZUMO1.
H-InvDBHIX0202883.
HGNCiHGNC:28539. IZUMO1.
HPAiHPA038104.
MIMi609278. gene.
neXtProtiNX_Q8IYV9.
OpenTargetsiENSG00000182264.
PharmGKBiPA142671647.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHEV. Eukaryota.
ENOG410Z8SJ. LUCA.
GeneTreeiENSGT00390000015014.
HOGENOMiHOG000113123.
HOVERGENiHBG081812.
InParanoidiQ8IYV9.
OMAiKEVHACR.
OrthoDBiEOG091G0AHL.
PhylomeDBiQ8IYV9.
TreeFamiTF338356.

Enzyme and pathway databases

BioCyciZFISH:G66-31141-MONOMER.
ReactomeiR-HSA-1300652. Sperm:Oocyte Membrane Binding.

Miscellaneous databases

ChiTaRSiIZUMO1. human.
GenomeRNAii284359.
PROiQ8IYV9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182264.
CleanExiHS_IZUMO1.
ExpressionAtlasiQ8IYV9. baseline and differential.
GenevisibleiQ8IYV9. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR029389. IZUMO.
IPR032699. Izumo-Ig.
IPR032700. IZUMO1.
[Graphical view]
PANTHERiPTHR35540:SF1. PTHR35540:SF1. 1 hit.
PfamiPF15005. IZUMO. 1 hit.
PF16706. Izumo-Ig. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiIZUM1_HUMAN
AccessioniPrimary (citable) accession number: Q8IYV9
Secondary accession number(s): Q6Q8P6, Q6Q8P7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 118 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Izumo is the name of a Japanese shrine to marriage.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.