Description
| Product Name: | Human PQBP1 Recombinant Protein |
| Product Code: | RPPB4287 |
| Size: | 20µg |
| Species: | Human |
| Target: | PQBP1 |
| Synonyms: | Golyglutamine binding protein 1, Polyglutamine tract-binding protein 1, 38kDa nuclear protein containing a WW domain, mental retardation X-linked 55, Sutherland-Haan X-linked mental retardation syndrome, Npw38, MRXS3, MRX55, MRXS8, RENS1, SHS. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The PQBP1 solution (0.5mg/1ml) contains 20mM Tris-HCl buffer (pH 8.0), 1mM DTT, 100mM NaCl and 20% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 95% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSHMPLPVA LQTRLAKRGI LKHLEPEPEE EIIAEDYDDD PVDYEATRLE GLPPSWYKVF DPSCGLPYYW NADTDLVSWL SPHDPNSVVT KSAKKLRSSN ADAEEKLDRS HDKSDRGHDK SDRSHEKLDR GHDKSDRGHD KSDRDRERGY DKVDRERERD RERDRDRGYD KADREEGKER RHHRREELAP YPKSKKAVSR KDEELDPMDP SSYSDAPRGT WSTGLPKRNE AKTGADTTAA GPLFQQRPYP SPGAVLRANA EASRTKQQD |
PQBP1 is a transcription repressor which is connected to polyglutamine tract-containing transcription regulators and connective genes for neurodegenerative disorders. PQBP1 is restricts to the nucleus and can be found in neurons all over the brain, with high levels in hippocampus, olfactory bulb and cerebellar cortex. PQBP1 holds a WWP/WW domain that binds proline-rich motifs and a C2 domain which is able to stimulate Ca2+-dependent phospholipid signaling.
PQBP1 Human Recombinant produced in�E. coli is a single polypeptide chain containing 289 amino acids (1-265) and having a molecular mass of 33.0kDa.PQBP1 is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | PQBP1: 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. Defects in PQBP1 are the cause of Renpenning syndrome 1 (RENS1); 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. 10 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Transcription, coactivator/corepressor Chromosomal Location of Human Ortholog: Xp11.23 Cellular Component: nucleoplasm; stress granule; cytoplasm; nuclear speck; nucleus Molecular Function:ribonucleoprotein binding; DNA binding; transcription coactivator activity Biological Process: alternative nuclear mRNA splicing, via spliceosome; transcription, DNA-dependent; regulation of transcription, DNA-dependent; regulation of RNA splicing; regulation of dendrite morphogenesis; neurite development Disease: Renpenning Syndrome 1 |
| NCBI Summary: | This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009] |
| UniProt Code: | O60828 |
| NCBI GenInfo Identifier: | 74735456 |
| NCBI Gene ID: | 10084 |
| NCBI Accession: | O60828.1 |
| UniProt Secondary Accession: | O60828,Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34 Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, |
| UniProt Related Accession: | O60828 |
| Molecular Weight: | 265 |
| NCBI Full Name: | Polyglutamine-binding protein 1 |
| NCBI Synonym Full Names: | polyglutamine binding protein 1 |
| NCBI Official Symbol: | PQBP1�� |
| NCBI Official Synonym Symbols: | SHS; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1�� |
| NCBI Protein Information: | polyglutamine-binding protein 1; polyglutamine tract-binding protein 1; 38 kDa nuclear protein containing a WW domain |
| UniProt Protein Name: | Polyglutamine-binding protein 1 |
| UniProt Synonym Protein Names: | 38 kDa nuclear protein containing a WW domain; Npw38; Polyglutamine tract-binding protein 1 |
| Protein Family: | Polyglutamine-binding protein |
| UniProt Gene Name: | PQBP1�� |
| UniProt Entry Name: | PQBP1_HUMAN |
