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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
  • 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 nephrotic syndrome and congenital nephrotic syndrome finnish type. Among its related pathways are Cell junction organization and Nephrin interactions. 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

Promoters for KIRREL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIRREL on UCSC Golden Path with GeneCards custom track

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

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).
  • 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

Antibody Products

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

Animal Model Products

  • Taconic Biosciences Mouse Models for KIRREL

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 IEA,TAS --
GO:0005911 cell-cell junction IEA,IDA 21402783
GO:0045121 membrane raft IEA --
GO:0070062 extracellular exosome IDA 23376485
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: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

Drugs & Compounds for KIRREL Gene

No Compound Related Data Available

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

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, 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 expression patterns with KIRREL: view

Protein tissue co-expression partners for KIRREL Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia KIRREL 35
  • 91.53 (n)
  • 98.38 (a)
KIRREL 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIRREL 35
  • 87.17 (n)
  • 95.11 (a)
KIRREL 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kirrel 35
  • 88.47 (n)
  • 96.89 (a)
Kirrel 16
Kirrel 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIRREL 35
  • 99.76 (n)
  • 99.86 (a)
KIRREL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kirrel 35
  • 88.2 (n)
  • 96.35 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 91 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KIRREL 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIRREL 35
  • 78.93 (n)
  • 82.47 (a)
KIRREL 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIRREL 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kirrel 35
  • 71.31 (n)
  • 79.44 (a)
Str.13745 35
zebrafish
(Danio rerio)
Actinopterygii kirrela 35
  • 64.45 (n)
  • 66.12 (a)
kirrela 36
  • 59 (a)
OneToMany
kirrelb 36
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000218 35
  • 45.36 (n)
  • 32.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta rst 35
  • 45.55 (n)
  • 33.59 (a)
kirre 36
  • 20 (a)
ManyToMany
rst 36
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea syg-1 36
  • 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

(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
rs35927201 - 158,078,020(-) GTCTG(A/C/T)GGAGC intron-variant, reference, missense
rs11897 -- 158,099,309(+) ATGCT(A/G)TAAAA utr-variant-3-prime
rs912572 -- 158,091,836(-) GAGGG(A/C)ATTTC intron-variant
rs912575 -- 158,071,351(+) GTGTG(A/G)GTGCG intron-variant
rs912640 -- 158,055,664(+) ATGTC(A/G)CCAGG 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

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

HapMap Linkage Disequilibrium report
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, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome
  • finnish congenital nephrosis
congenital nephrotic syndrome finnish type
  • finnish congenital nephrosis
- 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 23 48 67
  2. NEPH1 defines a novel family of podocin interacting proteins. (PMID: 12424224) Sellin L. … Walz G. (FASEB J. 2003) 2 3
  3. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. (PMID: 12660326) Gerke P. … Walz G. (J. Am. Soc. Nephrol. 2003) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Slit diaphragm protein Neph1 and its signaling: a novel therapeutic target for protection of podocytes against glomerular injury. (PMID: 24554715) Arif E. … Nihalani D. (J. Biol. Chem. 2014) 3

Products for KIRREL Gene

Sources for KIRREL Gene

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