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

Gene ID: 67767, updated on 11-Apr-2024

Summary

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, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 33.6), subcutaneous fat pad adult (RPKM 28.8) and 28 other tissues See more
Orthologs
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Genomic context

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

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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

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_001205025.1NP_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:1120
    Jagunal; Jagunal, ER re-organisation during oogenesis
  2. NM_001243739.1NP_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:129
    Jagunal; ER re-organisation during oogenesis
  3. NM_026365.3NP_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:1177
    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)