PQBP1 Gene - Polyglutamine Binding Protein 1
Essential regulator of transcription and splicing linked to intellectual disability and neurodegeneration
Gene Information Card
| Symbol | PQBP1 |
|---|---|
| Full Name | Polyglutamine Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 10084 ncbi.nlm.nih.gov/gene/10084 |
| Ensembl ID | ENSG00000102003 |
| UniProt ID | O60828 |
| OMIM ID | 300463 |
| HGNC ID | 9330 |
| Aliases | NPW38, Npw38, PQBP-1, SHS, MRX55, MRXS3, RENS1 |
Description
PQBP1 encodes a nuclear polyglutamine-binding protein that functions as a transcriptional co-regulator and splicing factor. It interacts with polyglutamine tracts of proteins such as huntingtin and ataxin, and is involved in pre-mRNA splicing, transcription elongation, and neuronal development. Mutations in PQBP1 cause X-linked intellectual disability syndromes, including Renpenning syndrome and Golabi-Ito-Hall syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renpenning syndrome | Loss-of-function mutations in PQBP1 impair transcriptional regulation and splicing, leading to intellectual disability, microcephaly, and short stature. | OMIM #309500; ClinVar |
| Golabi-Ito-Hall syndrome | Missense or frameshift mutations disrupt PQBP1 function, resulting in X-linked intellectual disability with distinct facial features and cardiac anomalies. | OMIM #300803; ClinVar |
| X-linked intellectual disability (MRX55) | Nonsense or splice-site mutations cause reduced PQBP1 protein levels, affecting neuronal gene expression and synaptic function. | OMIM #300463; HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HeLa (cervical carcinoma) | 7.8 | Epithelial |
| HEK293 (embryonic kidney) | 6.5 | Common cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.459_462delAGAG | Frameshift | ~30% of Renpenning syndrome cases | Loss of function; truncated protein |
| c.575A>G (p.Gln192Arg) | Missense | Rare | Impaired polyglutamine binding |
| c.640C>T (p.Arg214*) | Nonsense | ~15% of families | Premature stop; nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Majority of PQBP1 mutations (frameshift, nonsense, splice-site) lead to loss of protein function, reducing transcriptional co-activation and splicing efficiency.
Gain of Function (GOF)
Not reported for PQBP1.
Dominant Negative (DN)
Not reported; PQBP1 is X-linked and hemizygous in males.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • RNA binding (GO:0003723) |
| • mRNA processing (GO:0006397) | • RNA splicing (GO:0008380) |
| • nucleus (GO:0005634) | • transcription cofactor activity (GO:0003712) |
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72172)
• Gene expression (Transcription) (Reactome: R-HSA-74160)
Protein Summary
PQBP1 is a 265-amino-acid nuclear protein containing a WW domain and a C-terminal domain that binds polyglutamine repeats. It shuttles between the nucleus and cytoplasm, interacts with splicing factors (e.g., U5 snRNP components), and modulates transcription elongation via RNA polymerase II. The protein is highly expressed in brain and testis, consistent with its role in neuronal development and spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PQBP1 Knockout HEK293 Cell Line | EDJ-KQ2117 | Human | 10084 | Details Get a Quote |
| PQBP1 Knockout A-549 Cell Line | EDJ-KQ22255 | Human | 10084 | Details Get a Quote |
| PQBP1 Knockout HCT 116 Cell Line | EDJ-KQ22256 | Human | 10084 | Details Get a Quote |
| PQBP1 Knockout HeLa Cell Line | EDJ-KQ22257 | Human | 10084 | Details Get a Quote |
