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    LNPK lunapark, ER junction formation factor [ Homo sapiens (human) ]

    Gene ID: 80856, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LNPKprovided by HGNC
    Official Full Name
    lunapark, ER junction formation factorprovided by HGNC
    Primary source
    HGNC:HGNC:21610
    See related
    Ensembl:ENSG00000144320 MIM:610236; AllianceGenome:HGNC:21610
    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
    Ul; LNP; LNP1; NEDEHCC; KIAA1715; ulnaless
    Summary
    Enables identical protein binding activity. Involved in endoplasmic reticulum tubular network maintenance and positive regulation of endoplasmic reticulum tubular network organization. Located in endoplasmic reticulum tubular network membrane and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.2), colon (RPKM 5.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LNPK in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (175923882..176002820, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (176411993..176500878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176788610..176867548, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985962 Neighboring gene uncharacterized LOC124907909 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:176699169-176699670 Neighboring gene exostosin like glycosyltransferase 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16788 Neighboring gene thymosin beta-4-like Neighboring gene uncharacterized LOC107985830

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lunapark-dependent formation of a virus-induced ER exit site contains multi-tubular ER junctions that promote viral ER-to-cytosol escape.
      Title: Lunapark-dependent formation of a virus-induced ER exit site contains multi-tubular ER junctions that promote viral ER-to-cytosol escape.
    2. Roles of the Endogenous Lunapark Protein during Flavivirus Replication.
      Title: Roles of the Endogenous Lunapark Protein during Flavivirus Replication.
    3. Ubiquitylation of the ER-Shaping Protein Lunapark via the CRL3(KLHL12) Ubiquitin Ligase Complex.
      Title: Ubiquitylation of the ER-Shaping Protein Lunapark via the CRL3(KLHL12) Ubiquitin Ligase Complex.
    4. CAND1 regulates lunapark for the proper tubular network of the endoplasmic reticulum.
      Title: CAND1 regulates lunapark for the proper tubular network of the endoplasmic reticulum.
    5. The proposed mechanism ensures coordinated actions of ATL and Lnp in generating and maintaining three-way junctions.
      Title: Reciprocal regulation between lunapark and atlastin facilitates ER three-way junction formation.
    6. LNPK was expressed during brain development.
      Title: Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
    7. Despite its interaction with gp78, Lnp does not seem to have a broad function in degradation of misfolded ER proteins.
      Title: Lunapark Is a Component of a Ubiquitin Ligase Complex Localized to the Endoplasmic Reticulum Three-way Junctions.
    8. used live cell imaging to show that mammalian Lnp1 affects endoplasmic reticulum junction mobility and hence network dynamics
      Title: Lunapark stabilizes nascent three-way junctions in the endoplasmic reticulum.
    9. Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark.
      Title: Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark, an integral membrane protein of the endoplasmic reticulum.
    10. Propose that Lnp1p and Sey1p act antagonistically to balance endoplasmic reticular polygonal network formation.
      Title: ER network formation requires a balance of the dynamin-like GTPase Sey1p and the Lunapark family member Lnp1p.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
    MedGen: C4748137 OMIM: 618090 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of periodontal pathogen colonization.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102862, DKFZp686G1442

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum tubular network maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum tubular network organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in limb development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of endoplasmic reticulum tubular network organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum tubular network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum tubular network membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum junction formation protein lunapark
    Names
    2310011O18Rik
    4921514L11Rik
    ER junction formation factor lunapark
    limb and neural patterns
    protein lunapark

    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_001305008.1 → NP_001291937.1  endoplasmic reticulum junction formation protein lunapark isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB051502, AC016751, AK056532, CR936742, DC351745
      UniProtKB/TrEMBL
      B7ZLA9
      Conserved Domains (2) summary
      PHA03247
      Location:216 → 317
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:321 → 371
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    2. NM_001305009.1 → NP_001291938.1  endoplasmic reticulum junction formation protein lunapark isoform 2

      See identical proteins and their annotated locations for NP_001291938.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end and contains an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus and contains an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AC016751, BC143681, CR936742, DC351745
      Consensus CDS
      CCDS77489.1
      UniProtKB/Swiss-Prot
      Q9C0E8
      Related
      ENSP00000440905.1, ENST00000544803.5
      Conserved Domains (2) summary
      PHA03247
      Location:151 → 281
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:286 → 336
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    3. NM_001305010.1 → NP_001291939.1  endoplasmic reticulum junction formation protein lunapark isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate splice junctions in the 5' end and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AC016751, AK302833, CR936742, DC351745
      UniProtKB/TrEMBL
      B7ZLA9
      Conserved Domains (2) summary
      PHA03247
      Location:152 → 253
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:257 → 307
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    4. NM_001305011.2 → NP_001291940.1  endoplasmic reticulum junction formation protein lunapark isoform 5

      See identical proteins and their annotated locations for NP_001291940.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction in the 5' end and lacks two alternate 5' exons compared to variant 1.The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC016751, BC110329, CR936742
      Consensus CDS
      CCDS77488.1
      UniProtKB/TrEMBL
      B7Z829
      Related
      ENSP00000386237.1, ENST00000409660.5
      Conserved Domains (2) summary
      PHA03247
      Location:27 → 128
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:132 → 182
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    5. NM_030650.3 → NP_085153.1  endoplasmic reticulum junction formation protein lunapark isoform 4

      See identical proteins and their annotated locations for NP_085153.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC016751, CR936742, DC351745
      Consensus CDS
      CCDS33332.1
      UniProtKB/Swiss-Prot
      B7ZLA8, Q2M2V8, Q2YD99, Q658W8, Q8N5V9, Q96MS5, Q9C0E8
      UniProtKB/TrEMBL
      B7Z829
      Related
      ENSP00000272748.4, ENST00000272748.9
      Conserved Domains (2) summary
      PHA03247
      Location:150 → 251
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:255 → 305
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    RNA

    1. NR_130941.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has several differences in the 5' end and 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016751, AK301947, CR936742, DB052862

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      175923882..176002820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712783.3 → XP_006712846.1  endoplasmic reticulum junction formation protein lunapark isoform X1

      See identical proteins and their annotated locations for XP_006712846.1

      UniProtKB/Swiss-Prot
      B7ZLA8, Q2M2V8, Q2YD99, Q658W8, Q8N5V9, Q96MS5, Q9C0E8
      UniProtKB/TrEMBL
      B7Z829
      Conserved Domains (2) summary
      PHA03247
      Location:150 → 251
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:255 → 305
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    2. XM_005246878.5 → XP_005246935.1  endoplasmic reticulum junction formation protein lunapark isoform X2

      Conserved Domains (2) summary
      pfam10058
      Location:255 → 305
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
      cl22974
      Location:156 → 263
      HpaP; Type III secretion protein (HpaP)

    3. XM_005246879.5 → XP_005246936.1  endoplasmic reticulum junction formation protein lunapark isoform X3

      See identical proteins and their annotated locations for XP_005246936.1

      UniProtKB/TrEMBL
      B7Z829
      Conserved Domains (1) summary
      pfam10058
      Location:180 → 230
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    4. XM_047445937.1 → XP_047301893.1  endoplasmic reticulum junction formation protein lunapark isoform X3

    5. XM_005246880.4 → XP_005246937.1  endoplasmic reticulum junction formation protein lunapark isoform X4

      UniProtKB/TrEMBL
      B7Z829
      Conserved Domains (2) summary
      PHA03247
      Location:32 → 133
      PHA03247; large tegument protein UL36; Provisional
      pfam10058
      Location:137 → 187
      zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      176411993..176500878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344080.1 → XP_054200055.1  endoplasmic reticulum junction formation protein lunapark isoform X1

      UniProtKB/Swiss-Prot
      B7ZLA8, Q2M2V8, Q2YD99, Q658W8, Q8N5V9, Q96MS5, Q9C0E8

    2. XM_054344081.1 → XP_054200056.1  endoplasmic reticulum junction formation protein lunapark isoform X2

    3. XM_054344083.1 → XP_054200058.1  endoplasmic reticulum junction formation protein lunapark isoform X3

    4. XM_054344082.1 → XP_054200057.1  endoplasmic reticulum junction formation protein lunapark isoform X3

    5. XM_054344084.1 → XP_054200059.1  endoplasmic reticulum junction formation protein lunapark isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0E8.2 GenPept UniProtKB/Swiss-Prot:Q9C0E8

    Gene LinkOut

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

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