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

Gene ID: 69605, updated on 21-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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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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