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Kirrel1 kirre like nephrin family adhesion molecule 1 [ Mus musculus (house mouse) ]

Gene ID: 170643, updated on 21-Apr-2024

Summary

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Official Symbol
Kirrel1provided by MGI
Official Full Name
kirre like nephrin family adhesion molecule 1provided by MGI
Primary source
MGI:MGI:1891396
See related
Ensembl:ENSMUSG00000041734 AllianceGenome:MGI:1891396
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Neph1; Kirrel; 6720469N11Rik
Summary
Predicted to enable cell adhesion molecule binding activity and myosin binding activity. Acts upstream of or within several processes, including excretion; negative regulation of protein phosphorylation; and positive regulation of actin filament polymerization. Located in cell-cell junction; dendritic shaft; and plasma membrane. Is expressed in craniocervical region bone; glomerular tuft; lung; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in nephrotic syndrome type 23. Orthologous to human KIRREL1 (kirre like nephrin family adhesion molecule 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in limb E14.5 (RPKM 16.4), subcutaneous fat pad adult (RPKM 10.9) and 21 other tissues See more
Orthologs
human all
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Genomic context

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Location:
3 F1; 3 38.18 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (86985900..87082084, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (87078593..87174777, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene C-terminal binding protein 2 pseudogene Neighboring gene predicted gene, 24472 Neighboring gene STARR-seq mESC enhancer starr_08147 Neighboring gene VISTA enhancer mm1616 Neighboring gene STARR-seq mESC enhancer starr_08154 Neighboring gene predicted gene 10705 Neighboring gene Fc receptor like 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Overexpression of Kin of IRRE-Like Protein 1 (KIRREL) in Gastric Cancer and Its Clinical Prognostic Significance. Zhang MJ, et al. Med Sci Monit, 2018 May 2. PMID 29717104, Free PMC Article
  2. Alternatively used promoters and distinct elements direct tissue-specific expression of nephrin. Beltcheva O, et al. J Am Soc Nephrol, 2003 Feb. PMID 12538735
  3. Expression of mKirre in the developing sensory pathways: its close apposition to nephrin-expressing cells. Morikawa Y, et al. Neuroscience, 2007 Dec 19. PMID 18022324
  4. Phosphorylation of slit diaphragm proteins NEPHRIN and NEPH1 upon binding of HGF promotes podocyte repair. Solanki AK, et al. J Biol Chem, 2021 Sep. PMID 34391780, Free PMC Article
  5. Comparative analysis of Neph gene expression in mouse and chicken development. Völker LA, et al. Histochem Cell Biol, 2012 Mar. PMID 22205279, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phosphorylation of slit diaphragm proteins NEPHRIN and NEPH1 upon binding of HGF promotes podocyte repair.
    Title: Phosphorylation of slit diaphragm proteins NEPHRIN and NEPH1 upon binding of HGF promotes podocyte repair.
  2. KIRREL was overexpressed in gastric cancer.
    Title: Overexpression of Kin of IRRE-Like Protein 1 (KIRREL) in Gastric Cancer and Its Clinical Prognostic Significance.
  3. Here we demonstrate that Neph1, Neph2, and Neph3 are expressed differentially in various tissues during ontogenesis in mouse and chicken.
    Title: Comparative analysis of Neph gene expression in mouse and chicken development.
  4. Neph1-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity
    Title: Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity.
  5. Nephrin-Neph1 complex transduces phosphorylation-mediated signals that assemble an actin polymerization complex at the podocyte intercellular junction.
    Title: Neph1 cooperates with nephrin to transduce a signal that induces actin polymerization.
  6. Analysis of five promoter-reporter gene constructs showed that regulatory elements driving expression encoded by exon 1A in kidney and brain are localized in region between -4 kb and 2.1 kb.
    Title: Alternatively used promoters and distinct elements direct tissue-specific expression of nephrin.
  7. In the adult brain, Neph1 is seen in the olfactory nerve layer and the glomerular layer of the olfactory bulb, in the hippocampus, and in cerebellar Purkinje cells. At the ultrastructural level, Neph1 is seen in dendritic shafts of pyramidal neurons.
    Title: Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis.
  8. Fyn catalyzes Nephrin phosphorylation in podocyte detergent-resistant membrane fractions.
    Title: Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin.
  9. nephrin and Neph1 interact and have roles in glomerular permeability
    Title: Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cell adhesion molecule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables myosin binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cell-cell adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within cell-cell adhesion IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in cell-cell junction maintenance ISO
Inferred from Sequence Orthology
more info
  
involved_in glomerular filtration ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of protein phosphorylation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within positive regulation of actin filament polymerization IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within renal protein absorption IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell projection membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell-cell junction ISO
Inferred from Sequence Orthology
more info
  
located_in dendritic shaft IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane raft ISO
Inferred from Sequence Orthology
more info
  
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
kin of IRRE-like protein 1
Names
kin of IRRE like 1
kin of irregular chiasm-like protein 1
nephrin 1
nephrin-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001170985.2 → NP_001164456.1  kin of IRRE-like protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001164456.1

    Status: VALIDATED

    Source sequence(s)
    AC102115
    Consensus CDS
    CCDS17450.1
    UniProtKB/Swiss-Prot
    Q80W68, Q8CIJ4, Q8CJ59, Q923L4
    Related
    ENSMUSP00000103243.3, ENSMUST00000107618.9
    Conserved Domains (4) summary
    cd05759
    Location:170 → 251
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:423 → 520
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    pfam13927
    Location:340 → 405
    Ig_3; Immunoglobulin domain
    cl11960
    Location:54 → 148
    Ig; Immunoglobulin domain

  2. NM_001377046.1 → NP_001363975.1  kin of IRRE-like protein 1 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC102115
    Conserved Domains (4) summary
    cd05759
    Location:143 → 224
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:396 → 493
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    pfam13927
    Location:313 → 378
    Ig_3; Immunoglobulin domain
    cl11960
    Location:27 → 121
    Ig; Immunoglobulin domain

  3. NM_130867.4 → NP_570937.2  kin of IRRE-like protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_570937.2

    Status: VALIDATED

    Source sequence(s)
    AC102115
    Consensus CDS
    CCDS17450.1
    UniProtKB/Swiss-Prot
    Q80W68, Q8CIJ4, Q8CJ59, Q923L4
    Related
    ENSMUSP00000125525.2, ENSMUST00000159976.8
    Conserved Domains (4) summary
    cd05759
    Location:170 → 251
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:423 → 520
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    pfam13927
    Location:340 → 405
    Ig_3; Immunoglobulin domain
    cl11960
    Location:54 → 148
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    86985900..87082084 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011240029.2 → XP_011238331.1  kin of IRRE-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011238331.1

    Conserved Domains (4) summary
    cd05759
    Location:170 → 251
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:439 → 536
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    pfam13927
    Location:340 → 421
    Ig_3; Immunoglobulin domain
    cl11960
    Location:54 → 148
    Ig; Immunoglobulin domain

  2. XM_006501076.5 → XP_006501139.1  kin of IRRE-like protein 1 isoform X2

    Conserved Domains (4) summary
    cd05759
    Location:143 → 224
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:412 → 509
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    pfam13927
    Location:313 → 394
    Ig_3; Immunoglobulin domain
    cl11960
    Location:27 → 121
    Ig; Immunoglobulin domain

  3. XM_011240028.4 → XP_011238330.1  kin of IRRE-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011238330.1

    Conserved Domains (4) summary
    cd05759
    Location:170 → 251
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:439 → 536
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    pfam13927
    Location:340 → 421
    Ig_3; Immunoglobulin domain
    cl11960
    Location:54 → 148
    Ig; Immunoglobulin domain

  4. XM_017319471.3 → XP_017174960.1  kin of IRRE-like protein 1 isoform X3

    Conserved Domains (4) summary
    cd05759
    Location:77 → 158
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:346 → 443
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    pfam13927
    Location:247 → 328
    Ig_3; Immunoglobulin domain
    cl11960
    Location:162 → 243
    Ig; Immunoglobulin domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80W68.1 GenPept UniProtKB/Swiss-Prot:Q80W68

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