Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KIRREL Gene

Aliases for KIRREL Gene

  • Kin Of IRRE Like (Drosophila) 2 3 5
  • Nephrin-Like Protein 1 2 3 4
  • Kin Of Irregular Chiasm-Like Protein 1 3 4
  • NEPH1 3 4
  • Kin Of IRRE-Like Protein 1 3
  • Nephrin Related 3
  • KIRREL1 4

External Ids for KIRREL Gene

Previous GeneCards Identifiers for KIRREL Gene

  • GC01U990326
  • GC01P154741
  • GC01P155180
  • GC01P155179
  • GC01P154776
  • GC01P156229
  • GC01P157963
  • GC01P129321

Summaries for KIRREL Gene

Entrez Gene Summary for KIRREL Gene

  • NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]

GeneCards Summary for KIRREL Gene

KIRREL (Kin Of IRRE Like (Drosophila)) is a Protein Coding gene. Diseases associated with KIRREL include Congenital Nephrotic Syndrome Finnish Type and Nephrotic Syndrome, Type 1. Among its related pathways are Nephrin interactions and Cell junction organization. GO annotations related to this gene include myosin binding. An important paralog of this gene is KIRREL3.

UniProtKB/Swiss-Prot for KIRREL Gene

  • 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).

Gene Wiki entry for KIRREL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIRREL Gene

Genomics for KIRREL Gene

Regulatory Elements for KIRREL Gene

Enhancers for KIRREL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F157967 1.2 FANTOM5 Ensembl ENCODE 12.8 -23.9 -23917 2.8 GTF2F1 CTCF ZNF654 JUN RAD21 JUND SMARCA4 POLR2A SMC3 MAFK KIRREL LOC105371459 LOC105371458
GH01F158034 1.1 Ensembl ENCODE 12 +44.3 44296 5.7 CTCF ZNF140 ZIC2 RAD21 ZNF316 GLIS2 ZFHX2 ZBTB48 SMC3 RCOR1 KIRREL RPS10P8 KIRREL-IT1 LOC105371460
GH01F158043 0.8 ENCODE 12 +50.2 50188 0.7 KLF1 PKNOX1 ZMYM3 ARID1B GATA2 IKZF1 ZNF341 KDM1A KIRREL KIRREL-IT1 LOC105371460
GH01F158117 0.6 Ensembl ENCODE 12 +124.9 124855 0.9 CTCF ZNF2 RAD21 ZNF664 ZFHX2 GLIS2 ZBTB48 ZNF143 SMC3 PRDM10 KIRREL LOC105371460 KIRREL-IT1
GH01F158124 0.2 ENCODE 12 +131.0 130983 0.2 SCRT2 KIRREL LOC105371460 KIRREL-IT1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KIRREL on UCSC Golden Path with GeneCards custom track

Promoters for KIRREL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080348 1227 3001 INSM2 KLF17 GLI4 RAD21 ZNF2 ZEB1 GLIS2 ZNF366 SCRT2 ZHX1

Genomic Location for KIRREL Gene

Chromosome:
1
Start:
157,993,273 bp from pter
End:
158,100,262 bp from pter
Size:
106,990 bases
Orientation:
Plus strand

Genomic View for KIRREL Gene

Genes around KIRREL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIRREL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIRREL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIRREL Gene

Proteins for KIRREL Gene

  • Protein details for KIRREL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96J84-KIRR1_HUMAN
    Recommended name:
    Kin of IRRE-like protein 1
    Protein Accession:
    Q96J84
    Secondary Accessions:
    • Q5W0F8
    • Q5XKC6
    • Q7Z696
    • Q7Z7N8
    • Q8TB15
    • Q9H9N1
    • Q9NVA5

    Protein attributes for KIRREL Gene

    Size:
    757 amino acids
    Molecular mass:
    83536 Da
    Quaternary structure:
    • 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 KIRREL glycosylation. Homodimer (via the Ig-like domains). Interacts when tyrosine-phosphorylated with GRB2 (By similarity).
    SequenceCaution:
    • Sequence=AAP59845.1; Type=Frameshift; Positions=19; Evidence={ECO:0000305}; Sequence=BAA91850.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14192.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIRREL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIRREL Gene

Post-translational modifications for KIRREL Gene

  • N-glycosylated.
  • Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity).
  • Ubiquitination at Lys 582, Lys 599, and Lys 729
  • Glycosylation at Asn 46, Asn 140, Asn 297, and Asn 471
  • Modification sites at PhosphoSitePlus

Other Protein References for KIRREL Gene

No data available for DME Specific Peptides for KIRREL Gene

Domains & Families for KIRREL Gene

Suggested Antigen Peptide Sequences for KIRREL Gene

Graphical View of Domain Structure for InterPro Entry

Q96J84

UniProtKB/Swiss-Prot:

KIRR1_HUMAN :
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the immunoglobulin superfamily.
Domain:
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIRREL: view

Function for KIRREL Gene

Molecular function for KIRREL Gene

UniProtKB/Swiss-Prot Function:
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).

Gene Ontology (GO) - Molecular Function for KIRREL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21402783
GO:0017022 myosin binding IPI 21402783
genes like me logo Genes that share ontologies with KIRREL: view
genes like me logo Genes that share phenotypes with KIRREL: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KIRREL

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIRREL Gene

Localization for KIRREL Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIRREL Gene

Cell membrane; Single-pass type I membrane protein. Note=Predominantly located at podocyte slit diaphragm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIRREL Gene COMPARTMENTS Subcellular localization image for KIRREL gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 3
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIRREL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IDA 21402783
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031253 cell projection membrane IEA --
genes like me logo Genes that share ontologies with KIRREL: view

Pathways & Interactions for KIRREL Gene

genes like me logo Genes that share pathways with KIRREL: view

Pathways by source for KIRREL Gene

1 BioSystems pathway for KIRREL Gene
2 Reactome pathways for KIRREL Gene

Gene Ontology (GO) - Biological Process for KIRREL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0007588 excretion IEA --
GO:0016337 single organismal cell-cell adhesion IEA --
GO:0030838 positive regulation of actin filament polymerization IEA --
genes like me logo Genes that share ontologies with KIRREL: view

No data available for SIGNOR curated interactions for KIRREL Gene

Transcripts for KIRREL Gene

Unigene Clusters for KIRREL Gene

Kin of IRRE like (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIRREL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: - - -
SP2: - - - -
SP3:
SP4:

Relevant External Links for KIRREL Gene

GeneLoc Exon Structure for
KIRREL
ECgene alternative splicing isoforms for
KIRREL

Expression for KIRREL Gene

mRNA expression in normal human tissues for KIRREL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIRREL Gene

This gene is overexpressed in Urine (13.9), Ovary (12.3), and Pancreas (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIRREL Gene



Protein tissue co-expression partners for KIRREL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIRREL Gene:

KIRREL

SOURCE GeneReport for Unigene cluster for KIRREL Gene:

Hs.609291

mRNA Expression by UniProt/SwissProt for KIRREL Gene:

Q96J84-KIRR1_HUMAN
Tissue specificity: Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli.
genes like me logo Genes that share expression patterns with KIRREL: view

Primer Products

No data available for mRNA differential expression in normal tissues for KIRREL Gene

Orthologs for KIRREL Gene

This gene was present in the common ancestor of animals.

Orthologs for KIRREL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIRREL 34 35
  • 99.76 (n)
cow
(Bos Taurus)
Mammalia KIRREL 34 35
  • 91.53 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Kirrel 34 16 35
  • 88.47 (n)
rat
(Rattus norvegicus)
Mammalia Kirrel 34
  • 88.2 (n)
dog
(Canis familiaris)
Mammalia KIRREL 34 35
  • 87.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIRREL 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIRREL 34 35
  • 78.93 (n)
lizard
(Anolis carolinensis)
Reptilia KIRREL 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kirrel 34
  • 71.31 (n)
Str.13745 34
zebrafish
(Danio rerio)
Actinopterygii kirrela 34 35
  • 64.45 (n)
kirrelb 35
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta rst 34 35
  • 45.55 (n)
kirre 35
  • 20 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000218 34
  • 45.36 (n)
worm
(Caenorhabditis elegans)
Secernentea syg-1 35
  • 21 (a)
OneToMany
Species where no ortholog for KIRREL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIRREL Gene

ENSEMBL:
Gene Tree for KIRREL (if available)
TreeFam:
Gene Tree for KIRREL (if available)

Paralogs for KIRREL Gene

Paralogs for KIRREL Gene

(2) SIMAP similar genes for KIRREL Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with KIRREL: view

Variants for KIRREL Gene

Sequence variations from dbSNP and Humsavar for KIRREL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10430456 -- 158,036,511(+) TGAGA(A/G)CAATT intron-variant
rs10430457 -- 158,036,527(+) GGGCT(C/T)CTAGA intron-variant
rs10554462 -- 158,035,038(+) CCATT(-/GTT)CTGTT intron-variant
rs10577493 -- 158,042,252(+) GTGTG(-/TGTGTG)ACTCA intron-variant
rs1058271 -- 158,099,997(+) GCTCC(A/T)GTTGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KIRREL Gene

Variant ID Type Subtype PubMed ID
dgv14e215 CNV deletion 23714750
dgv442n100 CNV gain 25217958
esv2667823 CNV deletion 23128226
esv2718562 CNV deletion 23290073
esv2849458 CNV deletion 24192839
esv2956 CNV loss 18987735
esv3364099 CNV insertion 20981092
esv3574897 CNV gain 25503493
esv3578207 CNV loss 25503493
esv3587660 CNV loss 21293372
esv5651 OTHER inversion 19470904
nsv1077742 CNV deletion 25765185
nsv1078265 CNV deletion 25765185
nsv473341 CNV novel sequence insertion 20440878
nsv523208 CNV gain 19592680
nsv526592 CNV loss 19592680
nsv999542 CNV loss 25217958

Variation tolerance for KIRREL Gene

Residual Variation Intolerance Score: 17.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIRREL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIRREL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIRREL Gene

Disorders for KIRREL Gene

MalaCards: The human disease database

(2) MalaCards diseases for KIRREL Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
congenital nephrotic syndrome finnish type
  • finnish congenital nephrosis
nephrotic syndrome, type 1
  • nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIRREL

Genetic Association Database (GAD)
KIRREL
Human Genome Epidemiology (HuGE) Navigator
KIRREL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIRREL
genes like me logo Genes that share disorders with KIRREL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIRREL Gene

Publications for KIRREL Gene

  1. Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. (PMID: 17968527) Ihalmo P. … Groop P.H. (Diabetologia 2008) 3 22 46 64
  2. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. (PMID: 20507940) Machuca E. … Antignac C. (J. Am. Soc. Nephrol. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PMID: 15144186) Brill L.M. … Peters E.C. (Anal. Chem. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for KIRREL Gene

Sources for KIRREL Gene

Content
Loading form....