PIPSL
pseudoPIP5K1A and PSMD4 like (pseudogene)
Gene summary
This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq, Jan 2009]
- PSMD4P2
- PIP5K1L1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PIPSL variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- phosphatidylinositol phosphorylation
Molecular Function
- phosphatidylinositol phosphate kinase activity
Cellular Component
- cytoplasm
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has negligible PIP5 kinase activity. Binds to ubiquitinated proteins.;