PQBP1

Chr Xp11.23

polyglutamine binding protein 1

MANE:: ENST00000447146.7

OMIM: 300463 ↗NCBI: 10084 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PQBP1 · O60828

v62025-08-01

Predicted Aligned Error matrix for PQBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.6/ 100

Confident

265 residues

Confidence breakdown

Very high(≥ 90)8%
Confident(70–90)44%
Low(50–70)38%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe microcephaly
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in females
COVID-19 research
Unknown
Kabuki syndrome
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

Renpenning syndrome
0.79
neurodegenerative disease
0.53
hereditary disease
0.47
Intellectual disability
0.45
microcephaly
0.42
hamel cerebro-palato-cardiac syndrome
0.37
X-linked intellectual disability, Golabi-Ito-hall type
0.37
dengue disease
0.37
X-linked intellectual disability, Sutherland-Haan type
0.37
X-linked intellectual disability, Porteous type
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polyglutamine-binding protein 1

Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating in the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437)