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    Jagn1 jagunal homolog 1 [ Mus musculus (house mouse) ]

    Gene ID: 67767, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Jagn1provided by MGI
    Official Full Name
    jagunal homolog 1provided by MGI
    Primary source
    MGI:MGI:1915017
    See related
    Ensembl:ENSMUSG00000051256 AllianceGenome:MGI:1915017
    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
    5830427H10Rik
    Summary
    Involved in several processes, including defense response to fungus; granulocyte colony-stimulating factor signaling pathway; and neutrophil migration. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in basisphenoid bone; dorsal root ganglion; orbito-sphenoid; submandibular gland primordium; and turbinate bone primordium. Human ortholog(s) of this gene implicated in severe congenital neutropenia 6. Orthologous to human JAGN1 (jagunal homolog 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 33.6), subcutaneous fat pad adult (RPKM 28.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Jagn1 in Genome Data Viewer
    Location:
    6 E3; 6 52.76 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (113419478..113425190)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (113442517..113448229)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1706 Neighboring gene RNA pseudouridylate synthase domain containing 3 Neighboring gene cell death-inducing DFFA-like effector c Neighboring gene predicted gene, 52871 Neighboring gene STARR-positive B cell enhancer ABC_E8122 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:113408068-113408221 Neighboring gene interleukin 17 receptor E Neighboring gene predicted gene, 52872 Neighboring gene interleukin 17 receptor C Neighboring gene STARR-positive B cell enhancer ABC_E684

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Jagn1 Is Induced in Response to ER Stress and Regulates Proinsulin Biosynthesis. Nosak C, et al. PLoS One, 2016. PMID 26882284, Free PMC Article
    2. Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense. Wirnsberger G, et al. Nat Genet, 2014 Sep. PMID 25129145, Free PMC Article
    3. A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans. Hagelkruys A, et al. J Exp Med, 2021 Jan 4. PMID 32930709, Free PMC Article
    4. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans.
      Title: A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans.
    2. These results identify a novel role for Jagn1 in regulating proinsulin biosynthesis.
      Title: Jagn1 Is Induced in Response to ER Stress and Regulates Proinsulin Biosynthesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in defense response to fungus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in granulocyte colony-stimulating factor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in granulocyte colony-stimulating factor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in granulocyte colony-stimulating factor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of insulin secretion involved in cellular response to glucose stimulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT involved_in neutrophil differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neutrophil differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neutrophil mediated immunity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neutrophil migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein jagunal homolog 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_001205025.1 → NP_001191954.1  protein jagunal homolog 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks an exon in the coding region and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC153910
      Conserved Domains (1) summary
      pfam07086
      Location:1 → 120
      Jagunal; Jagunal, ER re-organisation during oogenesis

    2. NM_001243739.1 → NP_001230668.1  protein jagunal homolog 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a unique C-terminus, compared to isoform 1.
      Source sequence(s)
      AI842017, AK003673, BU609459, CX236607
      Consensus CDS
      CCDS85121.1
      UniProtKB/TrEMBL
      A0A0N4SV89
      Related
      ENSMUSP00000145000.2, ENSMUST00000204254.2
      Conserved Domains (1) summary
      pfam07086
      Location:1 → 29
      Jagunal; ER re-organisation during oogenesis

    3. NM_026365.3 → NP_080641.1  protein jagunal homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_080641.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI842017, AK141417, BU609459
      Consensus CDS
      CCDS20419.1
      UniProtKB/Swiss-Prot
      Q5XKN4, Q9CQ67, Q9CX52
      Related
      ENSMUSP00000098631.5, ENSMUST00000101070.5
      Conserved Domains (1) summary
      pfam07086
      Location:1 → 177
      Jagunal; ER re-organisation during oogenesis

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      113419478..113425190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5XKN4.2 GenPept UniProtKB/Swiss-Prot:Q5XKN4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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