PPP1R11

protein phosphatase 1 regulatory inhibitor subunit 11, the group of Protein phosphatase 1 regulatory subunits|Cilia and flagella associated

Basic information

Region (hg38): 6:30066708-30070333

Previous symbols: [ "TCTE5" ]

Links

ENSG00000204619 ∙ NCBI:6992 ∙ OMIM:606670 ∙ HGNC:9285 ∙ Uniprot:O60927 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PPP1R11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R11 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			4	1		5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	0

Variants in PPP1R11

This is a list of pathogenic ClinVar variants found in the PPP1R11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-30069114-T-G		not specified	Uncertain significance (Jul 14, 2022)
6-30069176-G-T		not specified	Uncertain significance (Jun 16, 2023)
6-30069224-G-A		not specified	Likely benign (Dec 21, 2022)
6-30069239-C-T		not specified	Uncertain significance (Feb 21, 2024)
6-30069290-G-T		not specified	Uncertain significance (Apr 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R11	protein_coding	protein_coding	ENST00000376772	3	3625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.358	0.595	125674	0	2	125676	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.90	40	90.8	0.440	0.00000607	813
Missense in Polyphen		6	29.033	0.20666		283
Synonymous	0.975	23	29.8	0.773	0.00000153	262
Loss of Function	1.56	1	4.60	0.217	2.02e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000903	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at 'Lys-754' leading to its degradation by the proteasome. Plays a role in regulating inflammatory cytokine release and gram- positive bacterial clearance by functioning, in part, through the ubiquitination and degradation of TLR2 (PubMed:27805901). Inhibitor of protein phosphatase 1 (PubMed:9843442). {ECO:0000269|PubMed:27805901, ECO:0000269|PubMed:9843442}.

Intolerance Scores

• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.0976
• hipred: Y
• hipred_score: 0.531
• ghis: 0.522

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.950

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ppp1r11

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;protein ubiquitination;negative regulation of phosphoprotein phosphatase activity;negative regulation of protein dephosphorylation;negative regulation of cytokine secretion;defense response to Gram-positive bacterium
• Cellular component: protein phosphatase type 1 complex;nucleus;cytoplasm
• Molecular function: protein serine/threonine phosphatase inhibitor activity;protein binding;protein phosphatase 1 binding;ubiquitin protein ligase activity