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

Gene ID: 80856, updated on 23-Nov-2021

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
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
Expression
Ubiquitous expression in brain (RPKM 7.2), colon (RPKM 5.9) and 24 other tissues See more
Orthologs
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Genomic context

See LNPK in Genome Data Viewer
Location:
2q31.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (175923862..176002901, complement)
105.20201022 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 Sharpr-MPRA regulatory region 1697 Neighboring gene exostosin like glycosyltransferase 2 pseudogene 1 Neighboring gene thymosin beta-4 pseudogene Neighboring gene uncharacterized LOC107985830

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of periodontal pathogen colonization.
GeneReviews: Not available
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
MedGen: C4748137 OMIM: 618090 GeneReviews: Not available
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

General protein information

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

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB051502, AC016751, AK056532, CR936742, DC351745
    UniProtKB/Swiss-Prot
    Q9C0E8
    Conserved Domains (2) summary
    PHA03247
    Location:216317
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:321371
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
  2. NM_001305009.1NP_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:151281
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:286336
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
  3. NM_001305010.1NP_001291939.1  endoplasmic reticulum junction formation protein lunapark isoform 3 precursor

    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
    B7Z829
    Conserved Domains (2) summary
    PHA03247
    Location:152253
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:257307
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
  4. NM_001305011.2NP_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/Swiss-Prot
    Q9C0E8
    Related
    ENSP00000386237.1, ENST00000409660.5
    Conserved Domains (2) summary
    PHA03247
    Location:27128
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:132182
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
  5. NM_030650.3NP_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
    Q9C0E8
    Related
    ENSP00000272748.4, ENST00000272748.9
    Conserved Domains (2) summary
    PHA03247
    Location:150251
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:255305
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    175923862..176002901 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511945.2XP_011510247.1  endoplasmic reticulum junction formation protein lunapark isoform X3

    See identical proteins and their annotated locations for XP_011510247.1

    Conserved Domains (1) summary
    pfam10058
    Location:180230
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
  2. XM_006712783.2XP_006712846.1  endoplasmic reticulum junction formation protein lunapark isoform X1

    See identical proteins and their annotated locations for XP_006712846.1

    UniProtKB/Swiss-Prot
    Q9C0E8
    Conserved Domains (2) summary
    PHA03247
    Location:150251
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:255305
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
  3. XM_005246878.4XP_005246935.1  endoplasmic reticulum junction formation protein lunapark isoform X2

    Conserved Domains (2) summary
    pfam10058
    Location:255305
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
    cl22974
    Location:156263
    HpaP; Type III secretion protein (HpaP)
  4. XM_005246879.4XP_005246936.1  endoplasmic reticulum junction formation protein lunapark isoform X3

    See identical proteins and their annotated locations for XP_005246936.1

    Conserved Domains (1) summary
    pfam10058
    Location:180230
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
  5. XM_017005055.1XP_016860544.1  endoplasmic reticulum junction formation protein lunapark isoform X5

    UniProtKB/Swiss-Prot
    Q9C0E8
    Conserved Domains (2) summary
    PHA03247
    Location:27128
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:132182
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
  6. XM_005246880.3XP_005246937.1  endoplasmic reticulum junction formation protein lunapark isoform X4

    Conserved Domains (2) summary
    PHA03247
    Location:32133
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:137187
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
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