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Protein

Kin of IRRE-like protein 1

Gene

KIRREL1

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

Functioni

Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity).By similarity

GO - Molecular functioni

  • myosin binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-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:KIRREL1Imported
Synonyms:KIRREL, NEPH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000183853.17
HGNCiHGNC:15734 KIRREL1
MIMi607428 gene
neXtProtiNX_Q96J84

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 domaini17 – 499ExtracellularSequence analysisAdd BLAST483
Transmembranei500 – 520HelicalSequence analysisAdd BLAST21
Topological domaini521 – 757CytoplasmicSequence analysisAdd BLAST237

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55243
OpenTargetsiENSG00000183853
PharmGKBiPA30126

Polymorphism and mutation databases

DMDMi54036152

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 16Sequence analysisAdd BLAST16
ChainiPRO_000001509317 – 757Kin of IRRE-like protein 1Add BLAST741

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi42 ↔ 100PROSITE-ProRule annotation
Glycosylationi46N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi140N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi143 ↔ 200PROSITE-ProRule annotation
Disulfide bondi244 ↔ 287PROSITE-ProRule annotation
Glycosylationi297N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi329 ↔ 371PROSITE-ProRule annotation
Disulfide bondi413 ↔ 472PROSITE-ProRule annotation
Glycosylationi471N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei574PhosphoserineCombined sources1
Modified residuei605Phosphotyrosine; by FYNBy similarity1
Modified residuei606Phosphotyrosine; by FYNBy similarity1
Modified residuei622PhosphotyrosineCombined sources1
Modified residuei625PhosphotyrosineCombined sources1
Modified residuei724PhosphotyrosineCombined sources1

Post-translational modificationi

Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity).By similarity
N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ96J84
MaxQBiQ96J84
PaxDbiQ96J84
PeptideAtlasiQ96J84
PRIDEiQ96J84
ProteomicsDBi76896
76897 [Q96J84-2]
76898 [Q96J84-3]

PTM databases

iPTMnetiQ96J84
PhosphoSitePlusiQ96J84

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000183853 Expressed in 160 organ(s), highest expression level in prostate gland
CleanExiHS_KIRREL
ExpressionAtlasiQ96J84 baseline and differential
GenevisibleiQ96J84 HS

Organism-specific databases

HPAiHPA030458

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

Binary interactionsi

WithEntry#Exp.IntActNotes
TJP1Q071577EBI-3988456,EBI-79553

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120534, 35 interactors
IntActiQ96J84, 10 interactors
MINTiQ96J84
STRINGi9606.ENSP00000352138

Structurei

3D structure databases

ProteinModelPortaliQ96J84
SMRiQ96J84
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini21 – 115Ig-like C2-type 1Add BLAST95
Domaini120 – 216Ig-like C2-type 2Add BLAST97
Domaini223 – 299Ig-like C2-type 3Add BLAST77
Domaini308 – 387Ig-like C2-type 4Add BLAST80
Domaini392 – 488Ig-like C2-type 5Add BLAST97

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi405 – 407Cell 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
HOVERGENiHBG052260
InParanoidiQ96J84
OMAiHHNTNFT
OrthoDBiEOG091G02BJ
PhylomeDBiQ96J84
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 (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

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q96J84-1) [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
MLSLLVWILT LSDTFSQGTQ TRFSQEPADQ TVVAGQRAVL PCVLLNYSGI
60 70 80 90 100
VQWTKDGLAL GMGQGLKAWP RYRVVGSADA GQYNLEITDA ELSDDASYEC
110 120 130 140 150
QATEAALRSR RAKLTVLIPP EDTRIDGGPV ILLQAGTPHN LTCRAFNAKP
160 170 180 190 200
AATIIWFRDG TQQEGAVAST ELLKDGKRET TVSQLLINPT DLDIGRVFTC
210 220 230 240 250
RSMNEAIPSG KETSIELDVH HPPTVTLSIE PQTVQEGERV VFTCQATANP
260 270 280 290 300
EILGYRWAKG GFLIEDAHES RYETNVDYSF FTEPVSCEVH NKVGSTNVST
310 320 330 340 350
LVNVHFAPRI VVDPKPTTTD IGSDVTLTCV WVGNPPLTLT WTKKDSNMVL
360 370 380 390 400
SNSNQLLLKS VTQADAGTYT CRAIVPRIGV AEREVPLYVN GPPIISSEAV
410 420 430 440 450
QYAVRGDGGK VECFIGSTPP PDRIAWAWKE NFLEVGTLER YTVERTNSGS
460 470 480 490 500
GVLSTLTINN VMEADFQTHY NCTAWNSFGP GTAIIQLEER EVLPVGIIAG
510 520 530 540 550
ATIGASILLI FFFIALVFFL YRRRKGSRKD VTLRKLDIKV ETVNREPLTM
560 570 580 590 600
HSDREDDTAS VSTATRVMKA IYSSFKDDVD LKQDLRCDTI DTREEYEMKD
610 620 630 640 650
PTNGYYNVRA HEDRPSSRAV LYADYRAPGP ARFDGRPSSR LSHSSGYAQL
660 670 680 690 700
NTYSRGPASD YGPEPTPPGP AAPAGTDTTS QLSYENYEKF NSHPFPGAAG
710 720 730 740 750
YPTYRLGYPQ APPSGLERTP YEAYDPIGKY ATATRFSYTS QHSDYGQRFQ

QRMQTHV
Length:757
Mass (Da):83,536
Last modified:October 11, 2004 - v2
Checksum:iB937421970447FC2
GO
Isoform 2 (identifier: Q96J84-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     348-348: M → MGPRPPGSPPEAALSAQ

Show »
Length:773
Mass (Da):85,049
Checksum:i15E52EBB96E962F2
GO
Isoform 3 (identifier: Q96J84-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-221: IPPEDTRIDG...ETSIELDVHH → N

Note: No experimental confirmation available.
Show »
Length:654
Mass (Da):72,360
Checksum:iD85531AFF726E5B6
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DN67B4DN67_HUMAN
cDNA FLJ56360, highly similar to Ki...
KIRREL1
657Annotation score:
Q5W0G0Q5W0G0_HUMAN
Kin of IRRE-like protein 1
KIRREL1
571Annotation score:
Q5W0F9Q5W0F9_HUMAN
Kin of IRRE-like protein 1
KIRREL1
593Annotation score:

Sequence cautioni

The sequence AAP59845 differs from that shown. Reason: Frameshift at position 19.Curated
The sequence BAA91850 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14192 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti591 – 605DTREE…PTNGY → ERPRIRGRLNTSYSD (PubMed:11416156).CuratedAdd BLAST15

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05942878A → T. Corresponds to variant dbSNP:rs35927201Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011732118 – 221IPPED…LDVHH → N in isoform 3. 1 PublicationAdd BLAST104
Alternative sequenceiVSP_011733348M → MGPRPPGSPPEAALSAQ in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY017369 mRNA Translation: AAK00529.1
AY302131 mRNA Translation: AAP59845.1 Frameshift.
AL139010 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52853.1
BC025268 mRNA Translation: AAH25268.1
BC051356 mRNA Translation: AAH51356.1
BC067097 mRNA Translation: AAH67097.1
BC082969 mRNA Translation: AAH82969.1
BC109192 mRNA Translation: AAI09193.1
BC109193 mRNA Translation: AAI09194.1
AK001707 mRNA Translation: BAA91850.1 Different initiation.
AK022708 mRNA Translation: BAB14192.1 Different initiation.
CCDSiCCDS1172.2 [Q96J84-1]
RefSeqiNP_001273278.1, NM_001286349.1
NP_060710.3, NM_018240.6 [Q96J84-1]
XP_005245362.1, XM_005245305.4 [Q96J84-2]
UniGeneiHs.272234
Hs.609291
Hs.657006

Genome annotation databases

EnsembliENST00000359209; ENSP00000352138; ENSG00000183853 [Q96J84-1]
GeneIDi55243
KEGGihsa:55243
UCSCiuc001frn.6 human [Q96J84-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKIRR1_HUMAN
AccessioniPrimary (citable) accession number: Q96J84
Secondary accession number(s): Q5W0F8
, Q5XKC6, Q7Z696, Q7Z7N8, Q8TB15, Q9H9N1, Q9NVA5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2004
Last sequence update: October 11, 2004
Last modified: September 12, 2018
This is version 153 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

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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