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Aliases for KIRREL Gene

Aliases for KIRREL Gene

  • Kin Of IRRE Like (Drosophila) 2 3
  • Nephrin-Like Protein 1 2 3 4
  • NEPH1 3 4 6
  • Kin Of Irregular Chiasm-Like Protein 1 3 4
  • Kin Of IRRE-Like Protein 1 3
  • Nephrin Related 3
  • KIRREL1 4

External Ids for KIRREL Gene

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. Among its related pathways are Cell junction organization and Nephrin/Neph1 signaling in the kidney podocyte. 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

Genomic Location for KIRREL Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIRREL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIRREL Gene

Regulatory Elements 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

Proteomics data for KIRREL Gene at MOPED

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).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys582, Lys599, and Lys729
  • Glycosylation at Asn46, Asn140, Asn297, and Asn471

Other Protein References for KIRREL Gene

No data available for DME Specific Peptides for KIRREL Gene

Domains for KIRREL Gene

Gene Families for KIRREL Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • C2SET :Immunoglobulin superfamily / C2-set domain containing

UniProtKB/Swiss-Prot:

KIRR1_HUMAN
Domain:
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.:
    • Q96J84
Family:
  • Belongs to the immunoglobulin superfamily.:
    • Q96J84
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

Phenotypes for KIRREL Gene

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

miRNA for KIRREL Gene

miRTarBase miRNAs that target KIRREL

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
plasma membrane 5
extracellular 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 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:0016021 integral component of membrane IEA --
GO:0031253 cell projection membrane IEA --
GO:0043198 dendritic shaft IEA --
genes like me logo Genes that share ontologies with KIRREL: view

Pathways 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

Transcripts for KIRREL Gene

Unigene Clusters for KIRREL Gene

Kin of IRRE like (Drosophila):
Representative Sequences:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIRREL Gene

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 expressions with KIRREL: view

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 36
  • 99.76 (n)
  • 99.86 (a)
KIRREL 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIRREL 36
  • 91.53 (n)
  • 98.38 (a)
KIRREL 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIRREL 36
  • 87.17 (n)
  • 95.11 (a)
KIRREL 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kirrel 36
  • 88.47 (n)
  • 96.89 (a)
Kirrel 16
Kirrel 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 91 (a)
OneToMany
-- 37
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KIRREL 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kirrel 36
  • 88.2 (n)
  • 96.35 (a)
chicken
(Gallus gallus)
Aves KIRREL 36
  • 78.93 (n)
  • 82.47 (a)
KIRREL 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIRREL 37
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kirrel 36
  • 71.31 (n)
  • 79.44 (a)
Str.13745 36
zebrafish
(Danio rerio)
Actinopterygii kirrela 36
  • 64.45 (n)
  • 66.12 (a)
kirrela 37
  • 59 (a)
OneToMany
kirrelb 37
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000218 36
  • 45.36 (n)
  • 32.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta kirre 37
  • 20 (a)
ManyToMany
rst 36
  • 45.55 (n)
  • 33.59 (a)
rst 37
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea syg-1 37
  • 21 (a)
OneToMany
Species with no ortholog for KIRREL:
  • 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

Selected 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 MAF
rs11897 -- 158,099,309(+) ATGCT(A/G)TAAAA utr-variant-3-prime
rs874844 -- 158,097,257(+) CACAA(A/C)AACCA utr-variant-3-prime
rs877871 -- 158,056,546(-) TGCTG(A/G)GTGCT intron-variant
rs877872 -- 158,056,500(-) CAACC(C/T)GACCC intron-variant
rs912572 -- 158,091,836(-) GAGGG(A/C)ATTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv523208 CNV Gain 19592680
nsv526592 CNV Loss 19592680
esv5651 OTHER Inversion 19470904
esv2956 CNV Deletion 18987735
esv2718562 CNV Deletion 23290073
esv2667823 CNV Deletion 23128226

Relevant External Links for KIRREL Gene

HapMap Linkage Disequilibrium report
KIRREL

Disorders for KIRREL Gene

(2) University of Copenhagen DISEASES for KIRREL Gene

(3) Novoseek inferred disease relationships for KIRREL Gene

Disease -log(P) Hits PubMed IDs
nphs1 90.3 3
proteinuria 68.5 2
nephrotic syndrome 65.4 1

Relevant External Links for KIRREL

Genetic Association Database (GAD)
KIRREL
Human Genome Epidemiology (HuGE) Navigator
KIRREL
genes like me logo Genes that share disorders with KIRREL: view

No data available for UniProtKB/Swiss-Prot 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 23 49
  2. Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. (PMID: 11416156) Donoviel D.B. … Powell D.R. (Mol. Cell. Biol. 2001) 3 4
  3. NEPH1 defines a novel family of podocin interacting proteins. (PMID: 12424224) Sellin L. … Walz G. (FASEB J. 2003) 2 3
  4. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. (PMID: 12660326) Gerke P. … Walz G. (J. Am. Soc. Nephrol. 2003) 3 23
  5. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. (PMID: 20507940) Machuca E. … Antignac C. (J. Am. Soc. Nephrol. 2010) 3 49

Products for KIRREL Gene

Sources for KIRREL Gene

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