UniProtKB - Q8IZU9 (KIRR3_HUMAN)
Kin of IRRE-like protein 3
KIRREL3
Functioni
Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells.
By similarityGO - Molecular functioni
- cell adhesion molecule binding Source: GO_Central
GO - Biological processi
- cell-cell adhesion Source: GO_Central
- glomerulus morphogenesis Source: Ensembl
- hemopoiesis Source: UniProtKB
- hippocampus development Source: UniProtKB
- homophilic cell adhesion via plasma membrane adhesion molecules Source: UniProtKB
- inter-male aggressive behavior Source: Ensembl
- neuron migration Source: Ensembl
- neuron projection morphogenesis Source: Ensembl
- principal sensory nucleus of trigeminal nerve development Source: Ensembl
- synapse assembly Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q8IZU9 |
Reactomei | R-HSA-373753, Nephrin family interactions |
SignaLinki | Q8IZU9 |
Names & Taxonomyi
Protein namesi | Recommended name: Kin of IRRE-like protein 3Alternative name(s): Kin of irregular chiasm-like protein 3 Nephrin-like protein 21 Publication Cleaved into the following chain: Processed kin of IRRE-like protein 3By similarity |
Gene namesi | ORF Names:UNQ5923/PRO4502/PRO198141 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23204, KIRREL3 |
MIMi | 607761, gene |
neXtProti | NX_Q8IZU9 |
VEuPathDBi | HostDB:ENSG00000149571 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Extracellular region or secreted
- Secreted By similarity
Extracellular region or secreted
- extracellular region Source: UniProtKB
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: Reactome
Other locations
- axon Source: UniProtKB
- cell-cell junction Source: GO_Central
- dendrite Source: UniProtKB
- dendritic shaft Source: Ensembl
- integral component of membrane Source: UniProtKB
- synaptic vesicle Source: CACAO
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 22 – 535 | ExtracellularSequence analysisAdd BLAST | 514 | |
Transmembranei | 536 – 556 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 557 – 778 | CytoplasmicSequence analysisAdd BLAST | 222 |
Keywords - Cellular componenti
Cell membrane, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 84623 |
MalaCardsi | KIRREL3 |
OpenTargetsi | ENSG00000149571 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA134958283 |
Miscellaneous databases
Pharosi | Q8IZU9, Tbio |
Genetic variation databases
BioMutai | KIRREL3 |
DMDMi | 55736065 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000015098 | 22 – 778 | Kin of IRRE-like protein 3Add BLAST | 757 | |
ChainiPRO_0000435799 | 22 – ? | Processed kin of IRRE-like protein 3By similarity |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 69 ↔ 127 | PROSITE-ProRule annotation | ||
Glycosylationi | 167 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 170 ↔ 227 | PROSITE-ProRule annotation | ||
Glycosylationi | 253 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 271 ↔ 314 | PROSITE-ProRule annotation | ||
Glycosylationi | 324 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 356 ↔ 398 | PROSITE-ProRule annotation | ||
Disulfide bondi | 440 ↔ 499 | PROSITE-ProRule annotation | ||
Glycosylationi | 498 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q8IZU9 |
PaxDbi | Q8IZU9 |
PeptideAtlasi | Q8IZU9 |
PRIDEi | Q8IZU9 |
ProteomicsDBi | 71433 [Q8IZU9-1] 71434 [Q8IZU9-2] |
PTM databases
GlyGeni | Q8IZU9, 4 sites |
iPTMneti | Q8IZU9 |
PhosphoSitePlusi | Q8IZU9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000149571, Expressed in brain and 147 other tissues |
ExpressionAtlasi | Q8IZU9, baseline and differential |
Genevisiblei | Q8IZU9, HS |
Organism-specific databases
HPAi | ENSG00000149571, Tissue enriched (brain) |
Interactioni
Subunit structurei
Homodimer; mediates homophilic interactions to promote cell adhesion.
Interacts with NPHS1; forms heterodimers with NPHS1 (By similarity).
Interacts with NPHS2/podocin (via the C-terminus) (PubMed:12424224).
Interacts with CASK (PubMed:19012874).
Interacts (via extracellular region) with MAP1B (PubMed:25902260).
Interacts (via extracellular region) with MYO16 (PubMed:25902260).
Interacts (via intracellular region) with ATP1B1 (PubMed:25902260).
Interacts (via intracellular region) with SHMT2 (PubMed:25902260).
Interacts (via intracellular region) with UFC1 (PubMed:25902260).
By similarity3 PublicationsBinary interactionsi
Q8IZU9
GO - Molecular functioni
- cell adhesion molecule binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 124153, 1 interactor |
IntActi | Q8IZU9, 7 interactors |
STRINGi | 9606.ENSP00000435466 |
Miscellaneous databases
RNActi | Q8IZU9, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q8IZU9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q8IZU9 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 48 – 142 | Ig-like C2-type 1Add BLAST | 95 | |
Domaini | 147 – 243 | Ig-like C2-type 2Add BLAST | 97 | |
Domaini | 249 – 330 | Ig-like C2-type 3Add BLAST | 82 | |
Domaini | 335 – 415 | Ig-like C2-type 4Add BLAST | 81 | |
Domaini | 419 – 515 | Ig-like C2-type 5Add BLAST | 97 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 727 – 778 | DisorderedSequence analysisAdd BLAST | 52 |
Sequence similaritiesi
Keywords - Domaini
Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3510, Eukaryota |
GeneTreei | ENSGT00940000157126 |
HOGENOMi | CLU_013520_1_0_1 |
InParanoidi | Q8IZU9 |
OMAi | PMSVIIG |
OrthoDBi | 269917at2759 |
PhylomeDBi | Q8IZU9 |
TreeFami | TF327139 |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
InterProi | View protein in InterPro IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013098, Ig_I-set IPR003599, Ig_sub IPR003598, Ig_sub2 |
Pfami | View protein in Pfam PF07679, I-set, 2 hits PF13895, Ig_2, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 4 hits SM00408, IGc2, 3 hits |
SUPFAMi | SSF48726, SSF48726, 5 hits |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 5 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKPFQLDLLF VCFFLFSQEL GLQKRGCCLV LGYMAKDKFR RMNEGQVYSF
60 70 80 90 100
SQQPQDQVVV SGQPVTLLCA IPEYDGFVLW IKDGLALGVG RDLSSYPQYL
110 120 130 140 150
VVGNHLSGEH HLKILRAELQ DDAVYECQAI QAAIRSRPAR LTVLVPPDDP
160 170 180 190 200
VILGGPVISL RAGDPLNLTC HADNAKPAAS IIWLRKGEVI NGATYSKTLL
210 220 230 240 250
RDGKRESIVS TLFISPGDVE NGQSIVCRAT NKAIPGGKET SVTIDIQHPP
260 270 280 290 300
LVNLSVEPQP VLEDNVVTFH CSAKANPAVT QYRWAKRGQI IKEASGEVYR
310 320 330 340 350
TTVDYTYFSE PVSCEVTNAL GSTNLSRTVD VYFGPRMTTE PQSLLVDLGS
360 370 380 390 400
DAIFSCAWTG NPSLTIVWMK RGSGVVLSNE KTLTLKSVRQ EDAGKYVCRA
410 420 430 440 450
VVPRVGAGER EVTLTVNGPP IISSTQTQHA LHGEKGQIKC FIRSTPPPDR
460 470 480 490 500
IAWSWKENVL ESGTSGRYTV ETISTEEGVI STLTISNIVR ADFQTIYNCT
510 520 530 540 550
AWNSFGSDTE IIRLKEQGSE MKSGAGLEAE SVPMAVIIGV AVGAGVAFLV
560 570 580 590 600
LMATIVAFCC ARSQRNLKGV VSAKNDIRVE IVHKEPASGR EGEEHSTIKQ
610 620 630 640 650
LMMDRGEFQQ DSVLKQLEVL KEEEKEFQNL KDPTNGYYSV NTFKEHHSTP
660 670 680 690 700
TISLSSCQPD LRPAGKQRVP TGMSFTNIYS TLSGQGRLYD YGQRFVLGMG
710 720 730 740 750
SSSIELCERE FQRGSLSDSS SFLDTQCDSS VSSSGKQDGY VQFDKASKAS
760 770
ASSSHHSQSS SQNSDPSRPL QRRMQTHV
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9PRX9 | E9PRX9_HUMAN | Kin of IRRE-like protein 3 | KIRREL3 | 766 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054828 | 40 | R → W Found in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs119462978EnsemblClinVar. | 1 | |
Natural variantiVAR_054829 | 336 | R → Q Found in patients with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114378922EnsemblClinVar. | 1 | |
Natural variantiVAR_054830 | 731 | V → F Found in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs119462980EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011799 | 566 – 600 | NLKGV…STIKQ → STGGRSGISGRGTEKKARLR LPRRASKQECNEQGS in isoform 2. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_011800 | 601 – 778 | Missing in isoform 2. 1 PublicationAdd BLAST | 178 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF480410 mRNA Translation: AAN73042.1 AB058770 mRNA Translation: BAB47496.1 Different initiation. AY358743 mRNA Translation: AAQ89103.1 AY358760 mRNA Translation: AAQ89120.1 Different initiation. BC101775 mRNA Translation: AAI01776.1 BC101801 mRNA Translation: AAI01802.1 |
CCDSi | CCDS53723.1 [Q8IZU9-1] CCDS55796.1 [Q8IZU9-2] |
RefSeqi | NP_001155179.1, NM_001161707.1 [Q8IZU9-2] NP_115920.1, NM_032531.3 [Q8IZU9-1] XP_011541333.1, XM_011543031.2 [Q8IZU9-1] XP_016873909.1, XM_017018420.1 [Q8IZU9-1] |
Genome annotation databases
Ensembli | ENST00000525144; ENSP00000435466; ENSG00000149571 ENST00000525704; ENSP00000435094; ENSG00000149571 [Q8IZU9-2] |
GeneIDi | 84623 |
KEGGi | hsa:84623 |
MANE-Selecti | ENST00000525144.7; ENSP00000435466.2; NM_032531.4; NP_115920.1 |
UCSCi | uc001qea.4, human [Q8IZU9-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF480410 mRNA Translation: AAN73042.1 AB058770 mRNA Translation: BAB47496.1 Different initiation. AY358743 mRNA Translation: AAQ89103.1 AY358760 mRNA Translation: AAQ89120.1 Different initiation. BC101775 mRNA Translation: AAI01776.1 BC101801 mRNA Translation: AAI01802.1 |
CCDSi | CCDS53723.1 [Q8IZU9-1] CCDS55796.1 [Q8IZU9-2] |
RefSeqi | NP_001155179.1, NM_001161707.1 [Q8IZU9-2] NP_115920.1, NM_032531.3 [Q8IZU9-1] XP_011541333.1, XM_011543031.2 [Q8IZU9-1] XP_016873909.1, XM_017018420.1 [Q8IZU9-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2CRY | NMR | - | A | 413-521 | [»] | |
SMRi | Q8IZU9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124153, 1 interactor |
IntActi | Q8IZU9, 7 interactors |
STRINGi | 9606.ENSP00000435466 |
PTM databases
GlyGeni | Q8IZU9, 4 sites |
iPTMneti | Q8IZU9 |
PhosphoSitePlusi | Q8IZU9 |
Genetic variation databases
BioMutai | KIRREL3 |
DMDMi | 55736065 |
Proteomic databases
MassIVEi | Q8IZU9 |
PaxDbi | Q8IZU9 |
PeptideAtlasi | Q8IZU9 |
PRIDEi | Q8IZU9 |
ProteomicsDBi | 71433 [Q8IZU9-1] 71434 [Q8IZU9-2] |
Protocols and materials databases
Antibodypediai | 33010, 144 antibodies from 30 providers |
DNASUi | 84623 |
Genome annotation databases
Ensembli | ENST00000525144; ENSP00000435466; ENSG00000149571 ENST00000525704; ENSP00000435094; ENSG00000149571 [Q8IZU9-2] |
GeneIDi | 84623 |
KEGGi | hsa:84623 |
MANE-Selecti | ENST00000525144.7; ENSP00000435466.2; NM_032531.4; NP_115920.1 |
UCSCi | uc001qea.4, human [Q8IZU9-1] |
Organism-specific databases
CTDi | 84623 |
DisGeNETi | 84623 |
GeneCardsi | KIRREL3 |
HGNCi | HGNC:23204, KIRREL3 |
HPAi | ENSG00000149571, Tissue enriched (brain) |
MalaCardsi | KIRREL3 |
MIMi | 607761, gene |
neXtProti | NX_Q8IZU9 |
OpenTargetsi | ENSG00000149571 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA134958283 |
VEuPathDBi | HostDB:ENSG00000149571 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3510, Eukaryota |
GeneTreei | ENSGT00940000157126 |
HOGENOMi | CLU_013520_1_0_1 |
InParanoidi | Q8IZU9 |
OMAi | PMSVIIG |
OrthoDBi | 269917at2759 |
PhylomeDBi | Q8IZU9 |
TreeFami | TF327139 |
Enzyme and pathway databases
PathwayCommonsi | Q8IZU9 |
Reactomei | R-HSA-373753, Nephrin family interactions |
SignaLinki | Q8IZU9 |
Miscellaneous databases
BioGRID-ORCSi | 84623, 5 hits in 1029 CRISPR screens |
ChiTaRSi | KIRREL3, human |
EvolutionaryTracei | Q8IZU9 |
GeneWikii | KIRREL3 |
GenomeRNAii | 84623 |
Pharosi | Q8IZU9, Tbio |
PROi | PR:Q8IZU9 |
RNActi | Q8IZU9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000149571, Expressed in brain and 147 other tissues |
ExpressionAtlasi | Q8IZU9, baseline and differential |
Genevisiblei | Q8IZU9, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
InterProi | View protein in InterPro IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013098, Ig_I-set IPR003599, Ig_sub IPR003598, Ig_sub2 |
Pfami | View protein in Pfam PF07679, I-set, 2 hits PF13895, Ig_2, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 4 hits SM00408, IGc2, 3 hits |
SUPFAMi | SSF48726, SSF48726, 5 hits |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 5 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | KIRR3_HUMAN | |
Accessioni | Q8IZU9Primary (citable) accession number: Q8IZU9 Secondary accession number(s): Q3MIJ7 Q96JG0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 25, 2004 |
Last sequence update: | March 1, 2003 | |
Last modified: | February 23, 2022 | |
This is version 159 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families