LRRC74A: Leucine-Rich Repeat-Containing Protein 74A
A poorly characterized leucine-rich repeat protein with potential roles in ciliary function and cancer, based on genomic and transcriptomic data.
Gene Information Card
| Symbol | LRRC74A |
|---|---|
| Full Name | Leucine rich repeat containing 74A |
| Gene Type | protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000255571 |
| UniProt ID | A6NKF9 |
| OMIM ID | Not available |
| HGNC ID | 37247 |
| Aliases | C14orf49, LRRC74 |
Description
LRRC74A (leucine rich repeat containing 74A) is a protein-coding gene located on chromosome 14q24.3. It encodes a protein containing leucine-rich repeats (LRRs), which are motifs often involved in protein-protein interactions. The gene is expressed in various tissues, with notable levels in the testis and certain brain regions. Its function is not fully characterized, but based on expression and homology, it may play a role in ciliary assembly or function. Altered expression has been observed in some cancers, suggesting potential involvement in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression; potential oncogenic or tumor suppressive role based on context | COSMIC: expression changes in various tumor types; limited functional evidence |
| Ciliopathies (potential) | LRR domain may be involved in ciliary protein interactions; not yet confirmed | Inferred from homology and expression in ciliated tissues; no direct clinical evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Thyroid | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.2 | Low expression |
| HeLa | 2.1 | Low expression |
| K562 | 1.5 | Very low expression |
| MCF7 | 4.0 | Low expression |
| A549 | 3.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.001% (gnomAD) | Unknown; predicted benign |
| c.567C>T (p.Pro189Leu) | Missense | 0.002% (gnomAD) | Unknown; predicted possibly damaging |
| c.890_891insA (frameshift) | Insertion | Not reported | Predicted loss-of-function; likely pathogenic if present |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to truncated protein are likely to cause loss of function, potentially affecting ciliary function if relevant.
Gain of Function (GOF)
No evidence for gain-of-function mutations; not reported in literature.
Dominant Negative (DN)
No evidence for dominant-negative effects; not reported.
View complete mutation data:
Gene Ontology (GO)
| • protein binding (GO:0005515) | • leucine-rich repeat domain binding (GO:0030274) |
| • cytoplasm (GO:0005737) | • cilium () (GO:0005929) |
Pathways
• No specific pathways curated in major databases; may be involved in ciliary transport or assembly based on LRR domain.
Protein Summary
The LRRC74A protein is 512 amino acids long and contains leucine-rich repeats (LRRs) that are predicted to mediate protein-protein interactions. It is localized predominantly in the cytoplasm, with potential association with ciliary structures. The protein's exact function is unknown, but its expression pattern and domain architecture suggest a role in ciliary biology or intracellular signaling. Structural predictions indicate a solenoid-like LRR domain typical of proteins involved in immune responses or neuronal development, but further studies are needed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC74A Knockout HEK293 Cell Line | EDJ-KQ10445 | Human | 145497 | Details Get a Quote |
| LRRC74A Knockout HeLa Cell Line | EDJ-KQ58521 | Human | 145497 | Details Get a Quote |
| LRRC74A Knockout A-549 Cell Line | EDJ-KQ67012 | Human | 145497 | Details Get a Quote |
| LRRC74A Knockout HCT 116 Cell Line | EDJ-KQ75412 | Human | 145497 | Details Get a Quote |