LRGUK
Leucine-Rich Repeats and Guanylate Kinase Domain Containing
Gene Information Card
| Symbol | LRGUK |
|---|---|
| Full Name | Leucine-Rich Repeats and Guanylate Kinase Domain Containing |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 55929 ncbi.nlm.nih.gov/gene/55929 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q96LR4 |
| OMIM ID | 615354 |
| HGNC ID | 28789 |
| Aliases | FLJ20291, MGC138290, MGC138291 |
Description
LRGUK is a protein-coding gene located on chromosome 7q31.31. It encodes a protein containing leucine-rich repeats and a guanylate kinase domain, suggesting roles in protein-protein interactions and nucleotide binding. The gene is expressed in various tissues and may be involved in spermatogenesis and ciliary function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | LRGUK mutations impair ciliary function, leading to defective mucociliary clearance | ClinVar, OMIM |
| Male infertility | Disruption of LRGUK affects sperm flagella formation and motility | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 3.2 | Low |
| Brain | 1.8 | Low |
| Heart | 1.5 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.1 | Low expression |
| HeLa | 1.5 | Low expression |
| K562 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.001% | p.Arg412Trp; potential loss of function |
| c.567_568del | Frameshift | <0.001% | p.Glu190fs; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in LRGUK are associated with loss of protein function, leading to ciliary defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • guanylate kinase activity (GO:0004383) |
| • cytoplasm (GO:0005737) | • cilium (GO:0005929) |
Pathways
• Cilium assembly
• Spermatogenesis
Protein Summary
The LRGUK protein contains leucine-rich repeats (LRRs) and a guanylate kinase (GK) domain. LRRs mediate protein-protein interactions, while the GK domain is involved in nucleotide binding and phosphorylation. The protein is localized to the cytoplasm and cilium, playing a role in ciliary function and sperm flagella formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRGUK Knockout HEK293 Cell Line | EDJ-KQ9382 | Human | 136332 | Details Get a Quote |
| LRGUK Knockout HeLa Cell Line | EDJ-KQ58366 | Human | 136332 | Details Get a Quote |
| LRGUK Knockout A-549 Cell Line | EDJ-KQ66854 | Human | 136332 | Details Get a Quote |
| LRGUK Knockout HCT 116 Cell Line | EDJ-KQ75259 | Human | 136332 | Details Get a Quote |
