Sutherland Haan X linked mental retardation syndrome
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. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit.
Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes.
Involvement in disease
Defects in PQBP1 are the cause of Renpenning syndrome 1 (RENS1) [MIM:309500]; also known as Sutherland-Haan X-linked mental retardation syndrome (SHS) or X-linked mental retardation syndromes MRXS3/MRXS8/MRX55. The clinical features are mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. RENS1 is more frequently in males than in females where little or no expression is found.
Contains 1 WW domain.
The WW domain may play a role as a transcriptional activator directly or via association with the transcription machinery. The WW domain mediates interaction with C-terminal domain of RNA polymerase II large subunit.
Nucleus. Co-localized with POU3F2. Co-localized with ATXN1 in nuclear inclusion bodies.