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

    Gene ID: 170643, updated on 9-Dec-2024

    Summary

    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 negative regulation of protein phosphorylation; positive regulation of actin filament polymerization; and renal protein absorption. Located in cell-cell junction; dendritic shaft; and plasma membrane. Is expressed in several structures, including brain; craniocervical region bone; heart; limb primordium; 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, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 16.4), subcutaneous fat pad adult (RPKM 10.9) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Kirrel1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell projection membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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 raft IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    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

    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)

    NEW Try the new Transcript table

    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_001170985.2NP_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:170251
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:423520
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      pfam13927
      Location:340405
      Ig_3; Immunoglobulin domain
      cl11960
      Location:54148
      Ig; Immunoglobulin domain
    2. NM_001377046.1NP_001363975.1  kin of IRRE-like protein 1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC102115
      Conserved Domains (4) summary
      cd05759
      Location:143224
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:396493
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      pfam13927
      Location:313378
      Ig_3; Immunoglobulin domain
      cl11960
      Location:27121
      Ig; Immunoglobulin domain
    3. NM_130867.4NP_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:170251
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:423520
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      pfam13927
      Location:340405
      Ig_3; Immunoglobulin domain
      cl11960
      Location:54148
      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_011240029.2XP_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:170251
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:439536
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      pfam13927
      Location:340421
      Ig_3; Immunoglobulin domain
      cl11960
      Location:54148
      Ig; Immunoglobulin domain
    2. XM_006501076.5XP_006501139.1  kin of IRRE-like protein 1 isoform X2

      Conserved Domains (4) summary
      cd05759
      Location:143224
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:412509
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      pfam13927
      Location:313394
      Ig_3; Immunoglobulin domain
      cl11960
      Location:27121
      Ig; Immunoglobulin domain
    3. XM_011240028.4XP_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:170251
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:439536
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      pfam13927
      Location:340421
      Ig_3; Immunoglobulin domain
      cl11960
      Location:54148
      Ig; Immunoglobulin domain
    4. XM_017319471.3XP_017174960.1  kin of IRRE-like protein 1 isoform X3

      Conserved Domains (4) summary
      cd05759
      Location:77158
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:346443
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      pfam13927
      Location:247328
      Ig_3; Immunoglobulin domain
      cl11960
      Location:162243
      Ig; Immunoglobulin domain