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    Lnpk lunapark, ER junction formation factor [ Mus musculus (house mouse) ]

    Gene ID: 69605, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Lnpkprovided by MGI
    Official Full Name
    lunapark, ER junction formation factorprovided by MGI
    Primary source
    MGI:MGI:1918115
    See related
    Ensembl:ENSMUSG00000009207 AllianceGenome:MGI:1918115
    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
    Ul; Lnp; Lnpk1; ulnaless; 2310011O18Rik; 4921514L11Rik; 9530051D01Rik
    Summary
    Predicted to enable identical protein binding activity. Acts upstream of or within blood coagulation; embryonic limb morphogenesis; and regulation of chondrocyte differentiation. Predicted to be located in endoplasmic reticulum tubular network membrane and nucleoplasm. Predicted to be integral component of endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum tubular network. Is expressed in several structures, including brain; ganglia; hindlimb bud; limb; and reproductive system. Orthologous to human LNPK (lunapark, ER junction formation factor). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 5.6), whole brain E14.5 (RPKM 5.3) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lnpk in Genome Data Viewer
    Location:
    2 C3; 2 44.13 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (74345180..74409802, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (74514836..74579458, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_04850 Neighboring gene predicted gene, 52593 Neighboring gene predicted gene, 57695 Neighboring gene RIKEN cDNA 4930445N08 gene Neighboring gene mitichondrial ribosomal protein L23, pseudogene 1 Neighboring gene predicted gene, 39852

    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. Maternal obesity during pregnancy leads to adipose tissue ER stress in mice via miR-126-mediated reduction in Lunapark. de Almeida-Faria J, et al. Diabetologia, 2021 Apr. PMID 33501603, Free PMC Article
    2. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Breuss MW, et al. Am J Hum Genet, 2018 Aug 2. PMID 30032983, Free PMC Article
    3. A global control region defines a chromosomal regulatory landscape containing the HoxD cluster. Spitz F, et al. Cell, 2003 May 2. PMID 12732147
    4. Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus. Montavon T, et al. Proc Natl Acad Sci U S A, 2012 Dec 11. PMID 23134724, Free PMC Article
    5. Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes. Hérault Y, et al. Development, 1997 Sep. PMID 9342042

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Maternal obesity during pregnancy leads to adipose tissue ER stress in mice via miR-126-mediated reduction in Lunapark.
      Title: Maternal obesity during pregnancy leads to adipose tissue ER stress in mice via miR-126-mediated reduction in Lunapark.
    2. We searched for the underlying control sequences upstream from the HoxD cluster and found Lunapark (Lnp), a gene having limb and CNS expression
      Title: A global control region defines a chromosomal regulatory landscape containing the HoxD cluster.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Radiation induced (1) 
    • Endonuclease-mediated (2) 

    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 identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum tubular network maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum tubular network organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of endoplasmic reticulum tubular network organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum tubular network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum tubular network membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum junction formation protein lunapark
    Names
    ER junction formation factor 1
    ER junction formation factor lunapark
    limb and neural patterns
    protein lunapark
    protein ulnaless

    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_001110209.1 → NP_001103679.1  endoplasmic reticulum junction formation protein lunapark isoform b

      See identical proteins and their annotated locations for NP_001103679.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b) that has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AK082900, AK137445, AL928644, AL929455, AY312281, BY770278, CJ260754
      Consensus CDS
      CCDS50609.1
      UniProtKB/TrEMBL
      A2ASL8
      Related
      ENSMUSP00000107624.3, ENSMUST00000111993.9
      Conserved Domains (2) summary
      pfam04094
      Location:100 → 228
      DUF390; Protein of unknown function (DUF390)
      pfam10058
      Location:250 → 300
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    2. NM_027133.3 → NP_081409.1  endoplasmic reticulum junction formation protein lunapark isoform a

      See identical proteins and their annotated locations for NP_081409.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL928644, AL929455, AY312281, BY770278, CJ260754
      Consensus CDS
      CCDS16137.1
      UniProtKB/Swiss-Prot
      A2ASL9, Q69ZC5, Q6PAQ1, Q6PEN8, Q7TQ95
      Related
      ENSMUSP00000066891.7, ENSMUST00000064503.13
      Conserved Domains (2) summary
      PHA03247
      Location:151 → 245
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:250 → 300
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      74345180..74409802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252057.1 → XP_030107917.1  endoplasmic reticulum junction formation protein lunapark isoform X2

      UniProtKB/TrEMBL
      A2ASL8
      Conserved Domains (2) summary
      pfam04094
      Location:100 → 228
      DUF390; Protein of unknown function (DUF390)
      pfam10058
      Location:250 → 300
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    2. XM_006500145.5 → XP_006500208.1  endoplasmic reticulum junction formation protein lunapark isoform X1

      See identical proteins and their annotated locations for XP_006500208.1

      UniProtKB/Swiss-Prot
      A2ASL9, Q69ZC5, Q6PAQ1, Q6PEN8, Q7TQ95
      Conserved Domains (2) summary
      PHA03247
      Location:151 → 245
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:250 → 300
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    3. XM_006500146.5 → XP_006500209.1  endoplasmic reticulum junction formation protein lunapark isoform X1

      See identical proteins and their annotated locations for XP_006500209.1

      UniProtKB/Swiss-Prot
      A2ASL9, Q69ZC5, Q6PAQ1, Q6PEN8, Q7TQ95
      Conserved Domains (2) summary
      PHA03247
      Location:151 → 245
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:250 → 300
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    4. XM_006500147.5 → XP_006500210.1  endoplasmic reticulum junction formation protein lunapark isoform X3

      See identical proteins and their annotated locations for XP_006500210.1

      Conserved Domains (2) summary
      PRK14971
      Location:28 → 137
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam10058
      Location:127 → 177
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    5. XM_030252058.2 → XP_030107918.1  endoplasmic reticulum junction formation protein lunapark isoform X4

      Conserved Domains (2) summary
      PRK14971
      Location:28 → 137
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam10058
      Location:127 → 177
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    6. XM_036162557.1 → XP_036018450.1  endoplasmic reticulum junction formation protein lunapark isoform X3

      Conserved Domains (2) summary
      PRK14971
      Location:28 → 137
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam10058
      Location:127 → 177
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    7. XM_030252056.1 → XP_030107916.1  endoplasmic reticulum junction formation protein lunapark isoform X1

      UniProtKB/Swiss-Prot
      A2ASL9, Q69ZC5, Q6PAQ1, Q6PEN8, Q7TQ95
      Conserved Domains (2) summary
      PHA03247
      Location:151 → 245
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:250 → 300
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TQ95.1 GenPept UniProtKB/Swiss-Prot:Q7TQ95

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