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Protein

Kin of IRRE-like protein 3

Gene

KIRREL3

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

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 similarity

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family interactions

Names & Taxonomyi

Protein namesi
Recommended name:
Kin of IRRE-like protein 3
Alternative 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
Name:KIRREL3Imported
Synonyms:KIAA18671 Publication, NEPH21 Publication
ORF Names:UNQ5923/PRO4502/PRO198141 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000149571.10
HGNCiHGNC:23204 KIRREL3
MIMi607761 gene
neXtProtiNX_Q8IZU9

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 – 535ExtracellularSequence analysisAdd BLAST514
Transmembranei536 – 556HelicalSequence analysisAdd BLAST21
Topological domaini557 – 778CytoplasmicSequence analysisAdd BLAST222

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84623
MalaCardsiKIRREL3
OpenTargetsiENSG00000149571
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA134958283

Polymorphism and mutation databases

BioMutaiKIRREL3
DMDMi55736065

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001509822 – 778Kin of IRRE-like protein 3Add BLAST757
ChainiPRO_000043579922 – ?Processed kin of IRRE-like protein 3By similarity

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi69 ↔ 127PROSITE-ProRule annotation
Glycosylationi167N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi170 ↔ 227PROSITE-ProRule annotation
Glycosylationi253N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi271 ↔ 314PROSITE-ProRule annotation
Glycosylationi324N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi356 ↔ 398PROSITE-ProRule annotation
Disulfide bondi440 ↔ 499PROSITE-ProRule annotation
Glycosylationi498N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Undergoes proteolysis by a metalloprotease and gives rise to a soluble form.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8IZU9
PeptideAtlasiQ8IZU9
PRIDEiQ8IZU9
ProteomicsDBi71433
71434 [Q8IZU9-2]

PTM databases

iPTMnetiQ8IZU9
PhosphoSitePlusiQ8IZU9

Expressioni

Tissue specificityi

Expressed in fetal and adult brain (PubMed:19012874). Also expressed in kidney, specifically in podocytes of kidney glomeruli (PubMed:12424224). Also expressed in skeletal muscle (PubMed:25488023).3 Publications

Gene expression databases

BgeeiENSG00000149571
CleanExiHS_KIRREL3
ExpressionAtlasiQ8IZU9 baseline and differential
GenevisibleiQ8IZU9 HS

Organism-specific databases

HPAiHPA053324
HPA056320

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 Publications

Protein-protein interaction databases

IntActiQ8IZU9, 1 interactor
STRINGi9606.ENSP00000435466

Structurei

Secondary structure

1778
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi422 – 425Combined sources4
Beta strandi440 – 442Combined sources3
Beta strandi449 – 457Combined sources9
Beta strandi462 – 465Combined sources4
Beta strandi468 – 475Combined sources8
Beta strandi478 – 484Combined sources7
Helixi490 – 494Combined sources5
Beta strandi497 – 502Combined sources6
Beta strandi507 – 512Combined sources6

3D structure databases

ProteinModelPortaliQ8IZU9
SMRiQ8IZU9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8IZU9

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini48 – 142Ig-like C2-type 1Add BLAST95
Domaini147 – 243Ig-like C2-type 2Add BLAST97
Domaini249 – 330Ig-like C2-type 3Add BLAST82
Domaini335 – 415Ig-like C2-type 4Add BLAST81
Domaini419 – 515Ig-like C2-type 5Add BLAST97

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi701 – 767Ser-richAdd BLAST67

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3510 Eukaryota
ENOG410XPX0 LUCA
GeneTreeiENSGT00550000074545
HOGENOMiHOG000020211
HOVERGENiHBG052260
InParanoidiQ8IZU9
OMAiKEQGSEM
OrthoDBiEOG091G02BJ
PhylomeDBiQ8IZU9
TreeFamiTF327139

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView 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
PfamiView protein in Pfam
PF07679 I-set, 2 hits
PF13895 Ig_2, 1 hit
SMARTiView protein in SMART
SM00409 IG, 4 hits
SM00408 IGc2, 3 hits
SUPFAMiSSF48726 SSF48726, 5 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 5 hits

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZU9-1) [UniParc]FASTAAdd to basket
Also known as: Kirrel3 A1 Publication

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
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
Length:778
Mass (Da):85,255
Last modified:March 1, 2003 - v1
Checksum:i8AD1694D3B376B0A
GO
Isoform 2 (identifier: Q8IZU9-2) [UniParc]FASTAAdd to basket
Also known as: Kirrel3 B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     566-600: NLKGVVSAKNDIRVEIVHKEPASGREGEEHSTIKQ → STGGRSGISGRGTEKKARLRLPRRASKQECNEQGS
     601-778: Missing.

Show »
Length:600
Mass (Da):65,308
Checksum:i67D52A6373036380
GO

Sequence cautioni

The sequence AAQ89120 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB47496 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05482840R → W Found in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs119462978EnsemblClinVar.1
Natural variantiVAR_054829336R → Q Found in patients with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114378922EnsemblClinVar.1
Natural variantiVAR_054830731V → F Found in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs119462980EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011799566 – 600NLKGV…STIKQ → STGGRSGISGRGTEKKARLR LPRRASKQECNEQGS in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_011800601 – 778Missing in isoform 2. 1 PublicationAdd BLAST178

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
CCDSiCCDS53723.1 [Q8IZU9-1]
CCDS55796.1 [Q8IZU9-2]
RefSeqiNP_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]
UniGeneiHs.376015

Genome annotation databases

EnsembliENST00000525144; ENSP00000435466; ENSG00000149571 [Q8IZU9-1]
ENST00000525704; ENSP00000435094; ENSG00000149571 [Q8IZU9-2]
GeneIDi84623
KEGGihsa:84623
UCSCiuc001qea.4 human [Q8IZU9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiKIRR3_HUMAN
AccessioniPrimary (citable) accession number: Q8IZU9
Secondary accession number(s): Q3MIJ7
, Q6UWJ9, Q6UWL5, Q96JG0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: March 1, 2003
Last modified: June 20, 2018
This is version 139 of the entry and version 1 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 11
    Human chromosome 11: 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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