PSAPL1
Prosaposin-like 1 (gene/pseudogene)
Gene Information Card
| Symbol | PSAPL1 |
|---|---|
| Full Name | prosaposin-like 1 (gene/pseudogene) |
| Gene Type | protein-coding (putative) |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 340390 ncbi.nlm.nih.gov/gene/340390 |
| Ensembl ID | ENSG00000164176 |
| UniProt ID | Q6UWQ3 |
| OMIM ID | 615679 |
| HGNC ID | 33895 |
| Aliases | PSAPL1, prosaposin-like 1, SAPL1 |
Description
PSAPL1 (prosaposin-like 1) is a gene located on chromosome 4p16.1 that encodes a protein with similarity to prosaposin, a precursor of saposins involved in sphingolipid metabolism. Although annotated as a protein-coding gene, some evidence suggests it may function as a processed pseudogene. Expression is low in most tissues, and its biological role remains poorly characterized.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Brain | 0.1 | Low |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low |
| HeLa | 0.1 | Low |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely benign |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
Pathways
• No curated pathways
Protein Summary
The PSAPL1 protein (UniProt Q6UWQ3) is a 142-amino acid polypeptide with a saposin-like domain. It shares sequence similarity with saposins A, B, C, and D but lacks the typical proteolytic processing sites. Its function is unknown, and it may represent a non-functional pseudogene product.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSAPL1 Knockout HEK293 Cell Line | EDJ-KQ14946 | Human | 768239 | Details Get a Quote |
| PSAPL1 Knockout HeLa Cell Line | EDJ-KQ60782 | Human | 768239 | Details Get a Quote |
| PSAPL1 Knockout A-549 Cell Line | EDJ-KQ69251 | Human | 768239 | Details Get a Quote |
| PSAPL1 Knockout HCT 116 Cell Line | EDJ-KQ77608 | Human | 768239 | Details Get a Quote |
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