Endoplasmic reticulum junction formation protein lunapark (LNPK)
The protein contains 428 amino acids for an estimated molecular weight of 47740 Da.
Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology (PubMed:30032983). 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 development (By similarity). Is involved in central nervous system development (PubMed:30032983). (updated: Jan. 16, 2019)
Protein identification was indicated in the following studies:
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is predicted to be membranous by TOPCONS.
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Biological Process
Blood coagulation
Embryonic digit morphogenesis
Embryonic forelimb morphogenesis
Endoplasmic reticulum organization
Endoplasmic reticulum tubular network maintenance
Endoplasmic reticulum tubular network organization
Limb development
Positive regulation of endoplasmic reticulum tubular network organization
Regulation of chondrocyte differentiation
The reference OMIM entry for this protein is 610236
Lunapark
Lnp
Kiaa1715
CLONING
By sequencing clones obtained from a size-fractionated adult brain cDNA library, Nagase et al. (2000) cloned KIAA1715. The 3-prime UTR contains several repetitive elements, and the deduced protein contains 429 amino acids. RT-PCR ELISA detected high expression in brain, skeletal muscle, fetal liver, and fetal brain, and intermediate levels in all other tissues examined. Intermediate to high levels were detected in all specific adult brain regions examined. By searching for genes near the HOXD (see HOXD1; 142987) gene cluster in mouse and human, Spitz et al. (2003) identified a gene they named Lunapark after the conserved peptide LNPARK in the deduced protein. In situ hybridization of mouse embryos detected strong staining in limb and genital buds and weak staining in all other tissues. Expression was first seen at embryonic day 10.5. Similar staining of developing digits was seen in embryonic chicken.GENE STRUCTURE
Spitz et al. (2003) determined that the human and mouse LNP genes contain 13 exons.MAPPING
By genomic sequence analysis, Spitz et al. (2003) mapped the LNP gene to chromosome 2q31. It lies about 80 kb from the 5-prime end of the HOXD gene cluster and is transcribed from the opposite strand. The mouse Lnp gene maps to chromosome 2 in a region that shares homology of synteny with human chromosome 2q31. Spitz et al. (2003) determined that LNP is a single-copy gene in mammals.ANIMAL MODEL
The ulnaless (Ul) mutation in mice is a semidominant x-ray-induced mutation. Heterozygous mice show abnormal zeugopods with an almost complete absence of ulna. Spitz et al. (2003) determined that Ul is caused by a balanced paracentric inversion of chromosome 2, with a centromeric breakpoint into Lnp and a telomeric breakpoint 770 kb away. The inverted DNA includes Evx2 (142991), the Hoxd complex, Mtx2 (608555), and some pseudogenes. A conserved cluster of global enhancers is located centromeric to the Lnp breakpoint, and the inversion disrupts the topographic relationship between the enhancers and their target genes, thereby altering the expression profile from that chromosomal segment. ... More on the omim web site
June 30, 2020: Protein entry updated
Automatic update: OMIM entry 610236 was added.
Feb. 23, 2019: Protein entry updated
Automatic update: comparative model was added.
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Jan. 21, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).