PIP5KL1
Phosphatidylinositol-4-Phosphate 5-Kinase Like 1
Gene Information Card
| Symbol | PIP5KL1 |
|---|---|
| Full Name | phosphatidylinositol-4-phosphate 5-kinase like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q13 |
| NCBI Gene ID | 138429 ncbi.nlm.nih.gov/gene/138429 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | Q5T0D9 |
| OMIM ID | 611474 |
| HGNC ID | 24966 |
| Aliases | FLJ40451, PIP5K-like protein 1 |
Description
PIP5KL1 encodes a phosphatidylinositol-4-phosphate 5-kinase-like protein that is predicted to be involved in phosphoinositide signaling. The protein contains a phosphatidylinositol phosphate kinase (PIPK) domain but may lack catalytic activity. It is expressed in multiple tissues and may play a role in membrane trafficking and cytoskeletal organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | missense | <0.01% (gnomAD) | Unknown functional impact |
| c.1237C>T (p.Arg413Trp) | missense | <0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol phosphate kinase activity | • ATP binding |
| • phosphatidylinositol-4-phosphate 5-kinase activity | • membrane |
Pathways
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Inositol phosphate metabolism (KEGG: hsa00562)
Protein Summary
PIP5KL1 is a 503-amino acid protein with a predicted molecular weight of ~57 kDa. It contains a PIPK domain but may be catalytically inactive. The protein is localized to the cytoplasm and membrane, and is thought to modulate phosphoinositide levels indirectly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIP5KL1 Knockout HEK293 Cell Line | EDJ-KQ9411 | Human | 138429 | Details Get a Quote |
| PIP5KL1 Knockout A-549 Cell Line | EDJ-KQ36071 | Human | 138429 | Details Get a Quote |
| PIP5KL1 Knockout HCT 116 Cell Line | EDJ-KQ36072 | Human | 138429 | Details Get a Quote |
| PIP5KL1 Knockout HeLa Cell Line | EDJ-KQ36073 | Human | 138429 | Details Get a Quote |
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