KIAA1549L Gene - KIAA1549 Like
Comprehensive genomic and functional overview of KIAA1549L
Gene Information Card
| Symbol | KIAA1549L |
|---|---|
| Full Name | KIAA1549 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 25758 ncbi.nlm.nih.gov/gene/25758 |
| Ensembl ID | ENSG00000110427 |
| UniProt ID | Q6P3W7 |
| OMIM ID | - |
| HGNC ID | 29323 |
| Aliases | FLJ10324, MGC138499 |
Description
KIAA1549L is a protein-coding gene located on chromosome 11q22.3. The encoded protein is predicted to be involved in cellular processes, though its specific biological function remains incompletely characterized. The gene is conserved in vertebrates and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.0 | Moderate expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | missense | <0.01% | Unknown |
| c.567C>T (p.Arg189*) | nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Arg189* is predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• No curated pathways
Protein Summary
The KIAA1549L protein (UniProt Q6P3W7) is 1,234 amino acids long and contains no characterized domains. Its function is not well understood, but it is predicted to localize to the cytoplasm and may participate in protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIAA1549L Knockout HEK293 Cell Line | EDJ-KQ8215 | Human | 25758 | Details Get a Quote |
| KIAA1549L Knockout A-549 Cell Line | EDJ-KQ34109 | Human | 25758 | Details Get a Quote |
| KIAA1549L Knockout HeLa Cell Line | EDJ-KQ55810 | Human | 25758 | Details Get a Quote |
| KIAA1549L Knockout HCT 116 Cell Line | EDJ-KQ72756 | Human | 25758 | Details Get a Quote |
