PPP1R1B
protein-codingprotein phosphatase 1 regulatory inhibitor subunit 1B, the group of Protein phosphatase 1 regulatory subunits
Gene summary
This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.9 kbGenCC 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 PPP1R1B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_032192.4. 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 | 3 | 1 | 4 | |||
| missense | 20 | 1 | 21 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 23 | 0 | 2 | 25 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_115568.2 | 7 | MANE Select | |
| Ensembl | ENSP00000254079.4 | 7 | MANE Select | |
| RefSeq | NP_001229393.1 | 6 | Standard | |
| RefSeq | NP_852606.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Dopaminergic synapse - Homo sapiens (human)
- cAMP signaling pathway - Homo sapiens (human)
- Amphetamine addiction - Homo sapiens (human)
- Alcoholism - Homo sapiens (human)
- Cocaine addiction - Homo sapiens (human)
Biological Process
- response to amphetamine
- transcription, DNA-templated
- signal transduction
- memory
- negative regulation of female receptivity
Molecular Function
- protein kinase inhibitor activity
- cAMP-dependent protein kinase inhibitor activity
- protein phosphatase inhibitor activity
- protein binding
- protein phosphatase regulator activity
Cellular Component
- nucleus
- cytoplasm
- cytosol
- neuronal cell body
- dendritic spine neck
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000254079
- Coding exons
- 7
- Length
- 9887
- Individuals with no LoFs
- 125731
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 16
- Defined
- 125747
- p
- 0.0000636
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.732 | 93 | 115 | 0.808 | 0.00000630 | 1310 |
| Missense (PolyPhen) | 51 | 56.939 | 0.8957 | 597 | ||
| Synonymous | -0.139 | 45 | 43.8 | 1.03 | 0.00000224 | 385 |
| Loss of Function | 2.36 | 3 | 11.7 | 0.256 | 5.01e-7 | 149 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0.00014 | 0.00014 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00014 | 0.00014 | rare |
| European (Non-Finnish) | 0.000035 | 0.000035 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Inhibitor of protein-phosphatase 1.;
Recessive Scores
- pRec
- 0.477
Intolerance Scores
- LoFtool
- 0.335
- RVIS EVS
- 0.13
- RVIS percentile EVS
- 63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.873
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |