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Aliases for LNPK Gene

Aliases for LNPK Gene

  • Lunapark, ER Junction Formation Factor 2 3 5
  • KIAA1715 2 3 4
  • ER Junction Formation Factor Lunapark 3 4
  • Limb And Neural Patterns 2 3
  • LNP 3 4
  • Endoplasmic Reticulum Junction Formation Protein Lunapark 3
  • Protein Lunapark 3
  • 2310011O18Rik 3
  • 4921514L11Rik 3
  • Ulnaless 3
  • LNP1 3
  • Ul 3

External Ids for LNPK Gene

Previous HGNC Symbols for LNPK Gene

  • KIAA1715

Summaries for LNPK Gene

GeneCards Summary for LNPK Gene

LNPK (Lunapark, ER Junction Formation Factor) is a Protein Coding gene.

UniProtKB/Swiss-Prot for LNPK Gene

  • Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology. Involved in the stabilization of nascent three-way ER tubular junctions within the ER network (PubMed:24223779, PubMed:25404289, PubMed:25548161, PubMed:27619977). May also play a role as a curvature-stabilizing protein within the three-way ER tubular junction network (PubMed:25404289). May be involved in limb and central nervous system development (By similarity).

Additional gene information for LNPK Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LNPK Gene

Genomics for LNPK Gene

GeneHancer (GH) Regulatory Elements for LNPK Gene

Promoters and enhancers for LNPK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I176000 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 563.2 +3.4 3406 2.4 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 LNPK HAGLROS GC02M175980
GH02I176003 Enhancer 0.3 Ensembl 550.8 +1.7 1687 0.2 IKZF1 LNPK GC02M175980
GH02I176075 Enhancer 1.1 VISTA UCNEbase 8.1 -70.6 -70624 1.3 POLR2A SMARCA4 RNF2 ZNF407 BMI1 EZH2 LNPK EVX2 GC02M176020
GH02I175931 Enhancer 0.3 ENCODE 27.4 +73.4 73430 0.7 JUND LNPK ENSG00000229779 GC02M175980
GH02I175999 Enhancer 0.4 Ensembl 18 +5.5 5487 0.2 PKNOX1 KDM1A LNPK GC02M175980
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LNPK on UCSC Golden Path with GeneCards custom track

Genomic Locations for LNPK Gene

Genomic Locations for LNPK Gene
chr2:175,923,862-176,005,388
(GRCh38/hg38)
Size:
81,527 bases
Orientation:
Minus strand
chr2:176,788,620-176,867,567
(GRCh37/hg19)

Genomic View for LNPK Gene

Genes around LNPK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LNPK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LNPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LNPK Gene

Proteins for LNPK Gene

  • Protein details for LNPK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0E8-LNP_HUMAN
    Recommended name:
    Endoplasmic reticulum junction formation protein lunapark
    Protein Accession:
    Q9C0E8
    Secondary Accessions:
    • B7ZLA8
    • Q2M2V8
    • Q2YD99
    • Q658W8
    • Q8N5V9
    • Q96MS5

    Protein attributes for LNPK Gene

    Size:
    428 amino acids
    Molecular mass:
    47740 Da
    Quaternary structure:
    • Homodimer; homodimerization requires the C4-type zinc finger motif and decreases during mitosis in a phosphorylation-dependent manner (PubMed:27619977).
    SequenceCaution:
    • Sequence=BAB21806.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LNPK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LNPK Gene

Post-translational modifications for LNPK Gene

  • Myristoylated; myristoylation is necessary for the endoplasmic reticulum (ER) three-way ER tubular junction formation, but is not required neither for membrane translocation, membrane topology formation, nor for the specific localization to ER membranes (PubMed:24223779).
  • Phosphorylated. Phosphorylation occurs at Ser-177, Ser-182, Ser-217, Ser-227, Ser-321 and Ser-384 during interphase (PubMed:27619977). Phosphorylation occurs at Ser-114, Ser-153, Ser-194, Thr-211 and Ser-353 during mitosis; these phosphorylations reduce both its homodimerization and the ER three-way tubular junction formation (PubMed:27619977).
  • Subject to proteasomal degradation following phosphorylation during mitosis (PubMed:27619977).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LNPK Gene

Domains & Families for LNPK Gene

Gene Families for LNPK Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LNPK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LNPK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0E8

UniProtKB/Swiss-Prot:

LNP_HUMAN :
  • The transmembrane domain 1 and 2 function as a signal-anchor and stop-transfer sequence, respectively, generating a double-spanning integral membrane protein with a N- and C-terminal cytoplasmic orientation (PubMed:24223779). Transmembrane domain 1 and 2 are probably sufficient to mediate membrane translocation and topology formation in a N-myristoylation-independent manner (PubMed:24223779). Transmembrane domain 2 is sufficient to block the protein secretion pathway (PubMed:24223779). The two coiled-coil domains are necessary for its endoplasmic reticulum (ER) three-way tubular junction localization (PubMed:27619977). The C4-type zinc finger motif is necessary both for its ER three-way tubular junction localization and formation (PubMed:24223779, PubMed:27619977).
  • Belongs to the lunapark family.
Domain:
  • The transmembrane domain 1 and 2 function as a signal-anchor and stop-transfer sequence, respectively, generating a double-spanning integral membrane protein with a N- and C-terminal cytoplasmic orientation (PubMed:24223779). Transmembrane domain 1 and 2 are probably sufficient to mediate membrane translocation and topology formation in a N-myristoylation-independent manner (PubMed:24223779). Transmembrane domain 2 is sufficient to block the protein secretion pathway (PubMed:24223779). The two coiled-coil domains are necessary for its endoplasmic reticulum (ER) three-way tubular junction localization (PubMed:27619977). The C4-type zinc finger motif is necessary both for its ER three-way tubular junction localization and formation (PubMed:24223779, PubMed:27619977).
Family:
  • Belongs to the lunapark family.
genes like me logo Genes that share domains with LNPK: view

Function for LNPK Gene

Molecular function for LNPK Gene

UniProtKB/Swiss-Prot Function:
Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology. Involved in the stabilization of nascent three-way ER tubular junctions within the ER network (PubMed:24223779, PubMed:25404289, PubMed:25548161, PubMed:27619977). May also play a role as a curvature-stabilizing protein within the three-way ER tubular junction network (PubMed:25404289). May be involved in limb and central nervous system development (By similarity).

Phenotypes From GWAS Catalog for LNPK Gene

Gene Ontology (GO) - Molecular Function for LNPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IDA 27619977
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with LNPK: view
genes like me logo Genes that share phenotypes with LNPK: view

Animal Model Products

miRNA for LNPK Gene

miRTarBase miRNAs that target LNPK

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LNPK Gene

Localization for LNPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for LNPK Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein; Cytoplasmic side. Note=Localizes at endoplasmic reticulum (ER) three-way tubular junctions, which represent crossing-points at which the tubules build a polygonal network (PubMed:22729086, PubMed:24223779, PubMed:25404289, PubMed:25548161, PubMed:27619977). {ECO:0000269 PubMed:22729086, ECO:0000269 PubMed:24223779, ECO:0000269 PubMed:25404289, ECO:0000269 PubMed:25548161, ECO:0000269 PubMed:27619977}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LNPK gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LNPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane IDA 24223779
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 12732147
genes like me logo Genes that share ontologies with LNPK: view

Pathways & Interactions for LNPK Gene

No Data Available

Gene Ontology (GO) - Biological Process for LNPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007596 blood coagulation IEA --
GO:0032330 regulation of chondrocyte differentiation IEA --
GO:0035115 embryonic forelimb morphogenesis IEA --
GO:0042733 embryonic digit morphogenesis IEA --
genes like me logo Genes that share ontologies with LNPK: view

No data available for Pathways by source and SIGNOR curated interactions for LNPK Gene

Drugs & Compounds for LNPK Gene

No Compound Related Data Available

Transcripts for LNPK Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LNPK Gene

No ASD Table

Relevant External Links for LNPK Gene

GeneLoc Exon Structure for
LNPK
ECgene alternative splicing isoforms for
LNPK

Expression for LNPK Gene

NURSA nuclear receptor signaling pathways regulating expression of LNPK Gene:

LNPK

Evidence on tissue expression from TISSUES for LNPK Gene

  • Nervous system(4.6)
  • Adrenal gland(4.2)
  • Liver(4.2)
  • Stomach(4.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LNPK Gene

Orthologs for LNPK Gene

This gene was present in the common ancestor of animals.

Orthologs for LNPK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1715 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia KIAA1715 33 34
  • 92.81 (n)
rat
(Rattus norvegicus)
Mammalia Lnp 33
  • 90.85 (n)
cow
(Bos Taurus)
Mammalia KIAA1715 33 34
  • 90.61 (n)
mouse
(Mus musculus)
Mammalia Lnp 33 34
  • 88.73 (n)
Lnpk 16
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1715 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1715 33 34
  • 76.1 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1715 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1715 33
  • 69.66 (n)
Str.3943 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23923 33
zebrafish
(Danio rerio)
Actinopterygii lnpa 33 34
  • 63.09 (n)
lnpb 34
  • 56 (a)
OneToMany
lnp 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4759 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007983 33
  • 48.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8735 33 34
  • 44.48 (n)
worm
(Caenorhabditis elegans)
Secernentea lnp-1 33 34
  • 42.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8149 34
  • 40 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14484 33
Species where no ortholog for LNPK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LNPK Gene

ENSEMBL:
Gene Tree for LNPK (if available)
TreeFam:
Gene Tree for LNPK (if available)

Paralogs for LNPK Gene

No data available for Paralogs for LNPK Gene

Variants for LNPK Gene

Sequence variations from dbSNP and Humsavar for LNPK Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000004733 -- 175,937,377(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000010144 -- 175,943,494(-) A/C/G intron_variant
rs1000020963 -- 175,976,855(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000035682 -- 175,931,838(-) G/A intron_variant
rs1000107149 -- 175,951,021(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LNPK Gene

Variant ID Type Subtype PubMed ID
nsv1001873 CNV loss 25217958
nsv1015032 CNV loss 25217958
nsv508120 OTHER sequence alteration 20534489
nsv521343 CNV loss 19592680
nsv953524 CNV duplication 24416366

Variation tolerance for LNPK Gene

Residual Variation Intolerance Score: 82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.57; 44.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LNPK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LNPK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LNPK Gene

Disorders for LNPK Gene

No disorders were found for LNPK Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LNPK Gene

Publications for LNPK Gene

  1. Lunapark stabilizes nascent three-way junctions in the endoplasmic reticulum. (PMID: 25548161) Chen S … Ferro-Novick S (Proceedings of the National Academy of Sciences of the United States of America 2015) 2 3 4 58
  2. ER network formation requires a balance of the dynamin-like GTPase Sey1p and the Lunapark family member Lnp1p. (PMID: 22729086) Chen S … Ferro-Novick S (Nature cell biology 2012) 2 3 4 58
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  4. Cooperation of the ER-shaping proteins atlastin, lunapark, and reticulons to generate a tubular membrane network. (PMID: 27619977) Wang S … Rapoport TA (eLife 2016) 3 4 58
  5. A model for the generation and interconversion of ER morphologies. (PMID: 25404289) Shemesh T … Rapoport TA (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58

Products for LNPK Gene

  • Addgene plasmids for LNPK

Sources for LNPK Gene

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