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Protein

Kin of IRRE-like protein 1

Gene

Kirrel1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a significant role in the normal development and function of the glomerular permeability. Is a signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1.1 Publication

Miscellaneous

Knockout of this gene results in perinatal lethality accompanied by proteinuria, and effacement of glomerular podocytes.

GO - Molecular functioni

GO - Biological processi

  • cell-cell adhesion Source: MGI
  • excretion Source: MGI
  • negative regulation of protein phosphorylation Source: MGI
  • positive regulation of actin filament polymerization Source: MGI

Enzyme and pathway databases

ReactomeiR-MMU-373753 Nephrin family interactions

Names & Taxonomyi

Protein namesi
Recommended name:
Kin of IRRE-like protein 1
Alternative name(s):
Kin of irregular chiasm-like protein 1
Nephrin-like protein 1
Gene namesi
Name:Kirrel1
Synonyms:Kirrel, Neph1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:1891396 Kirrel

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 domaini48 – 531ExtracellularSequence analysisAdd BLAST484
Transmembranei532 – 552HelicalSequence analysisAdd BLAST21
Topological domaini553 – 789CytoplasmicSequence analysisAdd BLAST237

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi633P → S: No effect on interaction with NPHS2. 1 Publication1
Mutagenesisi637Y → A: Inhibits interaction with NPHS2. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 47Sequence analysisAdd BLAST47
ChainiPRO_000001509448 – 789Kin of IRRE-like protein 1Add BLAST742

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi74 ↔ 132PROSITE-ProRule annotation
Glycosylationi78N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi172N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi175 ↔ 232PROSITE-ProRule annotation
Disulfide bondi276 ↔ 319PROSITE-ProRule annotation
Glycosylationi329N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi361 ↔ 403PROSITE-ProRule annotation
Disulfide bondi445 ↔ 504PROSITE-ProRule annotation
Glycosylationi503N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei606PhosphoserineBy similarity1
Modified residuei637Phosphotyrosine; by FYNBy similarity1
Modified residuei638Phosphotyrosine; by FYNBy similarity1
Modified residuei654PhosphotyrosineBy similarity1
Modified residuei657PhosphotyrosineBy similarity1
Modified residuei756PhosphotyrosineBy similarity1

Post-translational modificationi

Phosphorylation probably regulates the interaction with NPHS2. Phosphorylated at Tyr-637 and Tyr-638 by FYN, leading to GRB2 binding (By similarity).By similarity
N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ80W68
PeptideAtlasiQ80W68
PRIDEiQ80W68

PTM databases

iPTMnetiQ80W68
PhosphoSitePlusiQ80W68

Expressioni

Tissue specificityi

Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli.1 Publication

Gene expression databases

BgeeiENSMUSG00000041734 Expressed in 190 organ(s), highest expression level in dorsal pancreas
CleanExiMM_KIRREL
GenevisibleiQ80W68 MM

Interactioni

Subunit structurei

Interacts with TJP1/ZO-1 and with NPHS2/podocin (via the C-terminus). Interacts with NPHS1/nephrin (via the Ig-like domains); this interaction is dependent on KIRREL1 glycosylation. Homodimer (via the Ig-like domains). Interacts when tyrosine-phosphorylated with GRB2 (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi228359, 2 interactors
STRINGi10090.ENSMUSP00000103243

Structurei

3D structure databases

ProteinModelPortaliQ80W68
SMRiQ80W68
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 147Ig-like C2-type 1Add BLAST99
Domaini152 – 248Ig-like C2-type 2Add BLAST97
Domaini255 – 331Ig-like C2-type 3Add BLAST77
Domaini340 – 419Ig-like C2-type 4Add BLAST80
Domaini424 – 520Ig-like C2-type 5Add BLAST97

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi437 – 439Cell attachment siteSequence analysis3

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
InParanoidiQ80W68
OMAiMHYSDYR
OrthoDBiEOG091G02BJ
PhylomeDBiQ80W68
TreeFamiTF327139

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR013162 CD80_C2-set
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
PF08205 C2-set_2, 1 hit
PF07679 I-set, 1 hit
SMARTiView protein in SMART
SM00409 IG, 5 hits
SM00408 IGc2, 2 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: Q80W68-1) [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
MTLESPSTRL MTCQSSLLPE KPRFLSQKMW APHLVVAYLI FVTLALALPG
60 70 80 90 100
TQTRFSQEPA DQTVVAGQRA VLPCVLLNYS GIVQWTKDGL ALGMGQGLKA
110 120 130 140 150
WPRYRVVGSA DAGQYNLEIT DAELSDDASY ECQATEAALR SRRAKLTVLI
160 170 180 190 200
PPEETRIDGG PVILLQAGTP YNLTCRAFNA KPAATIIWFR DGTQQEGAVT
210 220 230 240 250
STELLKDGKR ETTISQLLIE PTDLDIGRVF TCRSMNEAIP NGKETSIELD
260 270 280 290 300
VHHPPTVTLS IEPQTVLEGE RVIFTCQATA NPEILGYRWA KGGFLIEDAH
310 320 330 340 350
ESRYETNVDY SFFTEPVSCE VYNKVGSTNV STLVNVHFAP RIVVYPKPTT
360 370 380 390 400
TDIGSDVTLT CVWVGNPPLT LTWTKKDSNM VLSNSNQLLL KSVTQADAGT
410 420 430 440 450
YTCRAIVPRI GVAEREVPLY VNGPPIISSE AVQFAVRGDG GKVECFIGST
460 470 480 490 500
PPPDRIAWAW KENFLEVGTL ERYTVERTNS GSGVLSTLTI NNVMEADFQT
510 520 530 540 550
HYNCTAWNSF GPGTAIIQLE EREVLPVGII AGATIGAGIL VVFSFAALVF
560 570 580 590 600
FLYRRRKGSR KDVTLRKLDI KVETVNREPL TMHSDREDDT ASISTATRVM
610 620 630 640 650
KAIYSSFKDD VDLKQDLRCD TIDTREEYEM KDPTNGYYNV RAHEDRPSSR
660 670 680 690 700
AVLYADYRAP GPTRFDGRPS SRLSHSSGYA QLNTYSRAPA SDYGTEPTPS
710 720 730 740 750
GPSAPGGTDT TSQLSYENYE KFNSHPFPGA AGYPTYRLGY PQAPPSGLER
760 770 780
TPYEAYDPIG KYATATRFSY TSQHSDYGQR FQQRMQTHV
Length:789
Mass (Da):87,176
Last modified:June 1, 2003 - v1
Checksum:i27FB31FFCCC25A2A
GO
Isoform 2 (identifier: Q80W68-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     606-634: SFKDDVDLKQDLRCDTIDTREEYEMKDPT → VRIMLLSTWPRLFIVLRPAPPAFNDFRYL
     635-789: Missing.

Show »
Length:634
Mass (Da):69,967
Checksum:iBCF35A5B1F8C87B0
GO

Sequence cautioni

The sequence AAK00528 differs from that shown. Reason: Frameshift at position 402.Curated
The sequence AAK00528 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti355S → F in AAN73043 (PubMed:12865409).Curated1
Sequence conflicti442K → E in AAN73043 (PubMed:12865409).Curated1
Sequence conflicti727F → L in AAN73043 (PubMed:12865409).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011736606 – 634SFKDD…MKDPT → VRIMLLSTWPRLFIVLRPAP PAFNDFRYL in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_011737635 – 789Missing in isoform 2. 1 PublicationAdd BLAST155

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF480411 mRNA Translation: AAN73043.1
AY243095 mRNA Translation: AAO91769.1
BC023765 mRNA Translation: AAH23765.3
AY017368 mRNA Translation: AAK00528.1 Sequence problems.
CCDSiCCDS17450.1 [Q80W68-1]
RefSeqiNP_001164456.1, NM_001170985.1 [Q80W68-1]
NP_570937.2, NM_130867.3 [Q80W68-1]
UniGeneiMm.89552

Genome annotation databases

EnsembliENSMUST00000041732; ENSMUSP00000043756; ENSMUSG00000041734 [Q80W68-2]
ENSMUST00000107618; ENSMUSP00000103243; ENSMUSG00000041734 [Q80W68-1]
ENSMUST00000159976; ENSMUSP00000125525; ENSMUSG00000041734 [Q80W68-1]
GeneIDi170643
KEGGimmu:170643
UCSCiuc008pru.2 mouse [Q80W68-1]
uc008prx.2 mouse [Q80W68-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF480411 mRNA Translation: AAN73043.1
AY243095 mRNA Translation: AAO91769.1
BC023765 mRNA Translation: AAH23765.3
AY017368 mRNA Translation: AAK00528.1 Sequence problems.
CCDSiCCDS17450.1 [Q80W68-1]
RefSeqiNP_001164456.1, NM_001170985.1 [Q80W68-1]
NP_570937.2, NM_130867.3 [Q80W68-1]
UniGeneiMm.89552

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4OFDX-ray3.94A/B48-253[»]
ProteinModelPortaliQ80W68
SMRiQ80W68
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi228359, 2 interactors
STRINGi10090.ENSMUSP00000103243

PTM databases

iPTMnetiQ80W68
PhosphoSitePlusiQ80W68

Proteomic databases

PaxDbiQ80W68
PeptideAtlasiQ80W68
PRIDEiQ80W68

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000041732; ENSMUSP00000043756; ENSMUSG00000041734 [Q80W68-2]
ENSMUST00000107618; ENSMUSP00000103243; ENSMUSG00000041734 [Q80W68-1]
ENSMUST00000159976; ENSMUSP00000125525; ENSMUSG00000041734 [Q80W68-1]
GeneIDi170643
KEGGimmu:170643
UCSCiuc008pru.2 mouse [Q80W68-1]
uc008prx.2 mouse [Q80W68-2]

Organism-specific databases

CTDi170643
MGIiMGI:1891396 Kirrel

Phylogenomic databases

eggNOGiKOG3510 Eukaryota
ENOG410XPX0 LUCA
GeneTreeiENSGT00550000074545
HOGENOMiHOG000020211
HOVERGENiHBG052260
InParanoidiQ80W68
OMAiMHYSDYR
OrthoDBiEOG091G02BJ
PhylomeDBiQ80W68
TreeFamiTF327139

Enzyme and pathway databases

ReactomeiR-MMU-373753 Nephrin family interactions

Miscellaneous databases

PROiPR:Q80W68
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000041734 Expressed in 190 organ(s), highest expression level in dorsal pancreas
CleanExiMM_KIRREL
GenevisibleiQ80W68 MM

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR013162 CD80_C2-set
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
PF08205 C2-set_2, 1 hit
PF07679 I-set, 1 hit
SMARTiView protein in SMART
SM00409 IG, 5 hits
SM00408 IGc2, 2 hits
SUPFAMiSSF48726 SSF48726, 5 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 5 hits
ProtoNetiSearch...

Entry informationi

Entry nameiKIRR1_MOUSE
AccessioniPrimary (citable) accession number: Q80W68
Secondary accession number(s): Q8CIJ4, Q8CJ59, Q923L4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2004
Last sequence update: June 1, 2003
Last modified: November 7, 2018
This is version 133 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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