Polyglutamine-binding protein 1 (PQBP1) is a protein that in humans is encoded by the PQBP1 gene. Polyglutamine binding protein-1, which was identified...
28 KB (3,107 words) - 00:17, 13 August 2024
are also known to commonly occur. It is associated with mutations in the PQBP1 gene. The gene product is a polyglutamine-binding protein involved in transcription...
3 KB (339 words) - 08:38, 18 August 2023
MAF MFRP NAA10 NDUFB11 NHS OTX2 PAX2 PAX6 PDE6D PIGL POLR1C POLR1D PORCN PQBP1 PRSS56 PTCH1 RAB3GAP1 RAB3GAP2 RARB RAX RBP4 RPGRIP1L SALL1 SALL2 SALL4...
25 KB (2,173 words) - 08:38, 29 October 2024
HGNC:30695 Q8NI37 12719 PPWD1 HGNC:28954 Q96BP3 12720 PPY HGNC:9327 P01298 12721 PQBP1 HGNC:9330 O60828 12722 PRAC1 HGNC:30591 Q96KF2 12723 PRAC2 HGNC:30143 D3DTV9...
282 KB (17 words) - 08:00, 19 November 2024
Ruiz PA, Germanaud D, des Protes V, Garcia-Sastre A, Konig R, Chanda SK. PQBP1 is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1. Cell...
8 KB (1,018 words) - 08:11, 14 July 2024
hyperplastic primary vitreous (PHPV) RIPK4 AR Popliteal pterygium syndrome (PPS) PQBP1 XLR Renpenning's syndrome RBP4 AR Retinal dystrophy, iris coloboma and comedogenic...
13 KB (538 words) - 09:46, 18 March 2024
research implicated the protein product as a novel component of the WBP11/PQBP1 splicing complex which regulates expression of genes involved in a spectrum...
14 KB (1,029 words) - 21:21, 26 March 2024
"Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene". Journal of Medical Genetics. 43 (6): e30. doi:10.1136/jmg.2005.037556...
23 KB (2,658 words) - 23:14, 25 May 2024
(December 2011). "The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of...
183 KB (12,460 words) - 13:46, 23 September 2024
GTF2B, GTF2F1, GTF2H4, MED21, MED26, PCAF, POLR2C, POLR2E, POLR2H, POLR2L, PQBP1, SMARCA2, SMARCA4 SMARCB1, SMYD3, SND1, SUPT5H, TAF11, TBP, TCEA1, TCERG1...
12 KB (1,339 words) - 19:29, 9 April 2024
delay and Intellectual Disability. POU3F2 has been shown to interact with PQBP1. Octamer transcription factor GRCh38: Ensembl release 89: ENSG00000184486...
10 KB (1,170 words) - 06:11, 13 May 2024
Renal-hepatic-pancreatic dysplasia; 208540; NPHP3 Renpenning syndrome; 309500; PQBP1 Restrictive dermopathy, lethal; 275210; ZMPSTE24 Reticular dysgenesis; 267500;...
234 KB (18,877 words) - 06:16, 6 November 2024
encoded by the TXNL4A gene in humans. TXNL4A has been shown to interact with PQBP1. GRCh38: Ensembl release 89: ENSG00000141759 – Ensembl, May 2017 "Human...
4 KB (510 words) - 12:01, 3 December 2023