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

Summary

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, Oct 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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
Roles of the Endogenous Lunapark Protein during Flavivirus Replication.
Title: Roles of the Endogenous Lunapark Protein during Flavivirus Replication.
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.
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.
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.
LNPK was expressed during brain development.
Title: Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

AI666268 (e-PCR)
- UniSTS:165177

RH80932 (e-PCR)
- UniSTS:84070

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-82164 (e-PCR)
- UniSTS:103075

D2S1983 (e-PCR)
- UniSTS:47789

NoName (e-PCR)
- UniSTS:488130

RH48765 (e-PCR)
- UniSTS:87237

D2S1697E (e-PCR)
- UniSTS:150726

D2S2314 (e-PCR)
- UniSTS:55543

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)

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
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
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
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
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

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

175923882..176002820 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

176411993..176500878 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B7ZLA8, Q2M2V8, Q2YD99, Q658W8, Q8N5V9, Q96MS5, Q9C0E8
XM_054344081.1 → XP_054200056.1 endoplasmic reticulum junction formation protein lunapark isoform X2
XM_054344083.1 → XP_054200058.1 endoplasmic reticulum junction formation protein lunapark isoform X3
XM_054344082.1 → XP_054200057.1 endoplasmic reticulum junction formation protein lunapark isoform X3
XM_054344084.1 → XP_054200059.1 endoplasmic reticulum junction formation protein lunapark isoform X4