LNPK Gene Summary [Human]
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. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | LNPK |
| Official Name | lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610] |
| Ensembl ID | ENSG00000144320 |
| Bio databases IDs | |
| Aliases | lunapark, ER junction formation factor, limb and neural patterns |
| Synonyms | 2310011O18Rik, 4921514L11Rik, 9530051D01Rik, AI666268, KIAA1715, LNP, LNP1, Lnpk1, lunapark, ER junction formation factor, NEDEHCC, Ul, ulnaless |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LNPK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Predicted integral membrane zinc-ribbon metal-binding protein
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
- carpal tunnel syndrome
- soft tissue sarcoma
- soft tissue sarcoma cancer
regulated by
- RYR1
- dimethyl n-oxalyl-glycine
- EGLN
regulates
- MHC I heavy chain
role in cell
- formation in
- degradation in
- differentiation
- formation
- organization
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cortical endoplasmic reticulum
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LNPK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- limb development
- regulation of chondrocyte differentiation
- endoplasmic reticulum tubular network maintenance
- endoplasmic reticulum tubular network organization
- blood coagulation
- endoplasmic reticulum organization
- embryonic forelimb morphogenesis
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum tubular network
- membrane
- endoplasmic reticulum
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- metal ion binding