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Protein

Izumo sperm-egg fusion protein 1

Gene

IZUMO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

Izumo is the name of a Japanese shrine to marriage.

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein binding involved in heterotypic cell-cell adhesion Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • signaling receptor binding Source: UniProtKB

GO - Biological processi

  • cell adhesion Source: HGNC
  • fusion of sperm to egg plasma membrane involved in single fertilization Source: HGNC
  • heterotypic cell-cell adhesion Source: UniProtKB
  • single fertilization Source: UniProtKB
  • sperm-egg recognition Source: UniProtKB

Keywordsi

Biological processFertilization

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000182264.8
HGNCiHGNC:28539 IZUMO1
MIMi609278 gene
neXtProtiNX_Q8IYV9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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...) asparagineSequence 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
ProteomicsDBi71246
71247 [Q8IYV9-2]
71248 [Q8IYV9-3]

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

Binary interactionsi

WithEntry#Exp.IntActNotes
IZUMO1RA6ND01-113EBI-16208297,EBI-16208304

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein binding involved in heterotypic cell-cell adhesion Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • signaling receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi129843, 22 interactors
CORUMiQ8IYV9
DIPiDIP-62033N
IntActiQ8IYV9, 1 interactor
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

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
InterProiView protein in InterPro
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR029389 IZUMO
IPR032699 Izumo-Ig
IPR032700 IZUMO1
PANTHERiPTHR35540 PTHR35540, 1 hit
PfamiView protein in Pfam
PF15005 IZUMO, 1 hit
PF16706 Izumo-Ig, 1 hit
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 → V3 PublicationsCorresponds to variant dbSNP:rs2307019Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiIZUM1_HUMAN
AccessioniPrimary (citable) accession number: Q8IYV9
Secondary accession number(s): Q6Q8P6, Q6Q8P7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 130 of the entry and version 2 of the sequence. See 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

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

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