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]).[suppl... See more...

Aliases for KIRREL1 Gene

Aliases for KIRREL1 Gene

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

External Ids for KIRREL1 Gene

Previous HGNC Symbols for KIRREL1 Gene

  • KIRREL

Summaries for KIRREL1 Gene

Entrez Gene Summary for KIRREL1 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 KIRREL1 Gene

KIRREL1 (Kirre Like Nephrin Family Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with KIRREL1 include Nephrotic Syndrome, Type 1 and Familial Nephrotic Syndrome. Among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Cell junction organization. An important paralog of this gene is KIRREL3.

UniProtKB/Swiss-Prot Summary for KIRREL1 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 KIRREL1 Gene

Additional gene information for KIRREL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIRREL1 Gene

Genomics for KIRREL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIRREL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J157991 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 613.9 +14.2 14238 32.2 CTCF TEAD4 PRDM10 ZNF629 RFX1 KDM1A ZNF692 PRDM1 ZIC2 ZSCAN4 KIRREL1 SMU1P1 CD1E OR10T2 KIRREL1-IT1 HSALNG0007704 SMIM42
GH01J158066 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 612 +78.9 78928 14 PRDM1 POLR2A MNT RAD21 ZFHX2 SMARCA4 EGR2 EGR1 KIRREL1 MN309000 lnc-CD5L-1 SMIM42
GH01J158112 Promoter/Enhancer 1.1 ENCODE CraniofacialAtlas 11.8 +120.0 119977 1 CREB1 CTCF ATF7 ZNF629 ZNF692 ZIC2 POLR2A ZFX ZNF561 ZBTB44 KIRREL1 LINC01704 piR-38716-009 SMIM42
GH01J158034 Enhancer 1 Ensembl ENCODE dbSUPER 12.1 +44.0 44032 6.2 CTCF ZNF692 ZIC2 ZNF341 ZBTB44 ZNF140 RAD21 TCF7L2 SMARCC1 CEBPB KIRREL1 RPS10P8 lnc-CD5L-1 KIRREL1-IT1 SMIM42
GH01J157967 Enhancer 1 FANTOM5 Ensembl ENCODE 12.8 -23.9 -23898 2.8 ZNF221 CTCF RAD21 JUND CEBPB MAFK ZBTB17 GTF2F1 POLR2A SMC3 KIRREL1 LOC105371459 HSALNG0007703 CD5L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIRREL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIRREL1

Genomic Locations for KIRREL1 Gene

Genomic Locations for KIRREL1 Gene
chr1:157,993,273-158,100,262
(GRCh38/hg38)
Size:
106,990 bases
Orientation:
Plus strand
chr1:157,963,063-158,070,052
(GRCh37/hg19)
Size:
106,990 bases
Orientation:
Plus strand

Genomic View for KIRREL1 Gene

Genes around KIRREL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIRREL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIRREL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIRREL1 Gene

Proteins for KIRREL1 Gene

  • Protein details for KIRREL1 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 KIRREL1 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 KIRREL1 glycosylation. Homodimer (via the Ig-like domains). Interacts when tyrosine-phosphorylated with GRB2 (By similarity).
    SequenceCaution:
    • Sequence=AAP59845.1; Type=Frameshift; 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 KIRREL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIRREL1 Gene

Post-translational modifications for KIRREL1 Gene

  • Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity).
  • N-glycosylated.
  • Glycosylation at Asn46, Asn140, Asn297, and Asn471
  • Ubiquitination at Lys582, Lys599, and Lys729
  • Modification sites at PhosphoSitePlus

Other Protein References for KIRREL1 Gene

No data available for DME Specific Peptides for KIRREL1 Gene

Domains & Families for KIRREL1 Gene

Gene Families for KIRREL1 Gene

Protein Domains for KIRREL1 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin V-set
  • Immunoglobulin subtype
ProtoNet:

Suggested Antigen Peptide Sequences for KIRREL1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56360, highly similar to Kin of IRRE-like protein 1 (B4DN67_HUMAN)
  • Nephrin-like protein 1 (KIRR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96J84

UniProtKB/Swiss-Prot:

KIRR1_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIRREL1: view

Function for KIRREL1 Gene

Molecular function for KIRREL1 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).

Phenotypes From GWAS Catalog for KIRREL1 Gene

Gene Ontology (GO) - Molecular Function for KIRREL1 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 KIRREL1: view
genes like me logo Genes that share phenotypes with KIRREL1: view

Animal Models for KIRREL1 Gene

MGI Knock Outs for KIRREL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIRREL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIRREL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KIRREL1 Gene

Localization for KIRREL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIRREL1 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIRREL1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KIRREL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IEA,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 KIRREL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIRREL1 Gene

Pathways & Interactions for KIRREL1 Gene

genes like me logo Genes that share pathways with KIRREL1: view

Pathways by source for KIRREL1 Gene

1 BioSystems pathway for KIRREL1 Gene
2 Reactome pathways for KIRREL1 Gene

Gene Ontology (GO) - Biological Process for KIRREL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0007588 excretion IEA --
GO:0030838 positive regulation of actin filament polymerization IEA --
GO:0098609 cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with KIRREL1: view

No data available for SIGNOR curated interactions for KIRREL1 Gene

Drugs & Compounds for KIRREL1 Gene

No Compound Related Data Available

Transcripts for KIRREL1 Gene

mRNA/cDNA for KIRREL1 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIRREL1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIRREL1 Gene

No ASD Table

Relevant External Links for KIRREL1 Gene

GeneLoc Exon Structure for
KIRREL1

Expression for KIRREL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIRREL1

mRNA Expression by UniProt/SwissProt for KIRREL1 Gene:

Q96J84-KIRR1_HUMAN
Tissue specificity: Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli.

Evidence on tissue expression from TISSUES for KIRREL1 Gene

  • Kidney(4.6)
  • Liver(4.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with KIRREL1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIRREL1 Gene

Orthologs for KIRREL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIRREL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIRREL 30 31
  • 99.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIRREL 30 31
  • 91.53 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Kirrel 30 17 31
  • 88.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kirrel 30
  • 88.2 (n)
Dog
(Canis familiaris)
Mammalia KIRREL 30 31
  • 87.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIRREL 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIRREL 30 31
  • 78.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIRREL 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kirrel 30
  • 71.31 (n)
Str.13745 30
Zebrafish
(Danio rerio)
Actinopterygii kirrela 30 31
  • 64.45 (n)
OneToMany
kirrelb 31
  • 57 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta rst 30 31
  • 45.55 (n)
ManyToMany
kirre 31
  • 20 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000218 30
  • 45.36 (n)
Worm
(Caenorhabditis elegans)
Secernentea syg-1 31
  • 21 (a)
OneToMany
Species where no ortholog for KIRREL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 KIRREL1 Gene

ENSEMBL:
Gene Tree for KIRREL1 (if available)
TreeFam:
Gene Tree for KIRREL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIRREL1: view image

Paralogs for KIRREL1 Gene

Paralogs for KIRREL1 Gene

genes like me logo Genes that share paralogs with KIRREL1: view

Variants for KIRREL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIRREL1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs35927201 - p.Ala78Thr

Additional dbSNP identifiers (rs#s) for KIRREL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KIRREL1 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 KIRREL1 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)

Additional Variant Information for KIRREL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIRREL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIRREL1 Gene

Disorders for KIRREL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KIRREL1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 1
  • nphs1
familial nephrotic syndrome
  • congenital nephrotic syndrome
nephrotic syndrome
  • finnish congenital nephrotic syndrome
pierson syndrome
  • microcoria-congenital nephrotic syndrome
progressive myoclonus epilepsy 4
  • epm4
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with KIRREL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIRREL1 Gene

Publications for KIRREL1 Gene

  1. Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. (PMID: 17968527) Ihalmo P … FinnDiane Study Group (Diabetologia 2008) 3 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PMID: 15144186) Brill LM … Peters EC (Analytical chemistry 2004) 3 4
  5. NEPH1 defines a novel family of podocin interacting proteins. (PMID: 12424224) Sellin L … Walz G (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003) 2 3

Products for KIRREL1 Gene

  • Signalway ELISA kits for KIRREL1
  • Signalway Proteins for KIRREL1

Sources for KIRREL1 Gene