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PPP1R13L
protein phosphatase 1 regulatory subunit 13 like
PPP1R13L is located on the long (q) arm of chromosome 19, at band 19q13.32. Arm ratio per GRCh38 - banding schematic.
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Overview
PPP1R13L (protein phosphatase 1 regulatory subunit 13 like) encodes a protein that functions as a regulatory component of the protein phosphatase 1 enzyme complex. Protein phosphatases remove phosphate groups from proteins, a fundamental mechanism for controlling cellular signalling networks. The PPP1R13L regulatory subunit helps determine which proteins PP1 acts upon and under what circumstances.
This gene is located on chromosome 19 and produces a protein that contributes to the broader family of PP1 regulatory subunits, which together allow PP1 to participate in diverse cellular processes. While research into PPP1R13L is ongoing, the gene represents one component of the intricate regulatory machinery that cells use to coordinate responses to internal and external signals.
What the gene does
The protein encoded by PPP1R13L acts as a regulatory subunit for protein phosphatase 1, one of the major serine/threonine phosphatases in human cells. PP1 itself has broad substrate specificity, meaning it can remove phosphate groups from many different proteins. Regulatory subunits such as PPP1R13L provide specificity by directing the catalytic subunit of PP1 to particular cellular locations or target proteins.
By modulating PP1 activity, PPP1R13L influences the phosphorylation status of downstream target proteins, thereby affecting signalling pathways that control cellular processes. Phosphorylation and dephosphorylation act as molecular switches, turning protein functions on or off and allowing cells to respond dynamically to changing conditions. The precise targets and pathways regulated by PPP1R13L continue to be investigated, but the protein contributes to the broader network of phosphatase-mediated cellular control that maintains normal cell function.
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Chromosome location
PPP1R13L is located on the long arm of chromosome 19 at position 19q13.32. This chromosomal region contains numerous genes involved in diverse cellular functions. The specific genomic structure of PPP1R13L, including the number of exons and overall gene length, has not been comprehensively characterised in public databases at present.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variants in PPP1R13L include changes in the DNA sequence that may alter the structure or expression of the encoded regulatory subunit. The inheritance pattern for variants in this gene can vary depending on the specific change and its functional consequences. As research into PPP1R13L continues, our understanding of which variants affect protein function and contribute to clinical presentations is evolving.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Currently, no specific inherited conditions have been definitively linked to PPP1R13L variants in clinical databases. The gene's role in regulating protein phosphatase 1 activity suggests it participates in fundamental cellular processes, but clear disease associations remain to be established through ongoing research. As genetic studies expand and more individuals undergo genomic testing, the relationship between PPP1R13L variants and human health may become clearer.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the PPP1R13L protein do in cells?
The PPP1R13L protein acts as a regulatory subunit for protein phosphatase 1 (PP1), helping direct this enzyme to specific cellular targets. By modulating PP1 activity, PPP1R13L influences the removal of phosphate groups from proteins, thereby affecting cellular signalling pathways.
Are there any known conditions associated with PPP1R13L variants?
At present, no specific inherited conditions have been definitively associated with PPP1R13L variants in clinical databases. Research into this gene is ongoing, and future studies may identify clearer links between genetic changes in PPP1R13L and human health.
Where is the PPP1R13L gene located?
PPP1R13L is located on chromosome 19 at position 19q13.32, on the long arm of the chromosome. This region contains many genes involved in various cellular functions.