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    KIRREL1 kirre like nephrin family adhesion molecule 1 [ Homo sapiens (human) ]

    Gene ID: 55243, updated on 17-Jun-2024

    Summary

    Official Symbol
    KIRREL1provided by HGNC
    Official Full Name
    kirre like nephrin family adhesion molecule 1provided by HGNC
    Primary source
    HGNC:HGNC:15734
    See related
    Ensembl:ENSG00000183853 MIM:607428; AllianceGenome:HGNC:15734
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEPH1; KIRREL; NPHS23
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 3.8), gall bladder (RPKM 3.0) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See KIRREL1 in Genome Data Viewer
    Location:
    1q23.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (157993645..158100262)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (157130739..157237353)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (157963435..158070052)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371458 Neighboring gene uncharacterized LOC105371459 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:157989127-157989812 Neighboring gene KIRREL1 intronic transcript 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:158015378-158015910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:158025579-158026153 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:158063276-158064475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1448 Neighboring gene long intergenic non-protein coding RNA 1704 Neighboring gene small integral membrane protein 42

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Nephrotic syndrome, type 23
    MedGen: C5543092 OMIM: 619201 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10845, FLJ25546, FLJ36844, FLJ39042, MGC129542, MGC129543

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    kin of IRRE-like protein 1
    Names
    kin of IRRE like
    kin of irregular chiasm-like protein 1
    nephrin related
    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_001286349.2NP_001273278.1  kin of IRRE-like protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001273278.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA628934, AK297788, AL139010
      Consensus CDS
      CCDS72952.1
      UniProtKB/TrEMBL
      B4DN67, Q5W0G0
      Related
      ENSP00000357155.4, ENST00000368173.7
      Conserved Domains (5) summary
      cd05759
      Location:38119
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:291388
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      smart00410
      Location:214289
      IG_like; Immunoglobulin like
      pfam07679
      Location:123204
      I-set; Immunoglobulin I-set domain
      pfam13895
      Location:211289
      Ig_2; Immunoglobulin domain
    2. NM_018240.7NP_060710.3  kin of IRRE-like protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060710.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA628934, AL139010, BC109192
      Consensus CDS
      CCDS1172.2
      UniProtKB/Swiss-Prot
      Q5W0F8, Q5XKC6, Q7Z696, Q7Z7N8, Q8TB15, Q96J84, Q9H9N1, Q9NVA5
      UniProtKB/TrEMBL
      Q5W0G0
      Related
      ENSP00000352138.6, ENST00000359209.11
      Conserved Domains (4) summary
      cd05759
      Location:138219
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:391488
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      pfam13927
      Location:308373
      Ig_3; Immunoglobulin domain
      cl28434
      Location:22116
      I-set; Immunoglobulin I-set domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      157993645..158100262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424310.1XP_047280266.1  kin of IRRE-like protein 1 isoform X2

      UniProtKB/TrEMBL
      Q5W0G0
      Related
      ENSP00000353202.4, ENST00000360089.8
    2. XM_005245305.6XP_005245362.1  kin of IRRE-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005245362.1

      UniProtKB/TrEMBL
      Q5W0G0
      Conserved Domains (6) summary
      cd05759
      Location:138219
      Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
      cd05898
      Location:407504
      Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
      smart00410
      Location:314405
      IG_like; Immunoglobulin like
      pfam07679
      Location:22116
      I-set; Immunoglobulin I-set domain
      pfam13895
      Location:311405
      Ig_2; Immunoglobulin domain
      cl11960
      Location:25116
      Ig; Immunoglobulin domain
    3. XM_047424312.1XP_047280268.1  kin of IRRE-like protein 1 isoform X2

      UniProtKB/TrEMBL
      Q5W0G0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      157130739..157237353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337432.1XP_054193407.1  kin of IRRE-like protein 1 isoform X2

      UniProtKB/TrEMBL
      Q5W0G0
    2. XM_054337431.1XP_054193406.1  kin of IRRE-like protein 1 isoform X1

      UniProtKB/TrEMBL
      Q5W0G0