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PQBP1  Protein, Antibody, ELISA Kit, cDNA Clone

PQBP1 相关研究领域

PQBP1 相關信號通路

    PQBP1 概述&蛋白信息

    PQBP1 研究背景

    亞單位結構: Interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HTT and AR. Interaction with ATXN1 correlates positively with the length of the polyglutamine tract. Interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner. Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II. Interacts (via C-terminus) with TXNL4A and CD2BP2. Interacts (via WW domain) with ATN1, WBP11 and SF3B1, and may interact with additional splice factors. {ECO:0000269|PubMed:10332029, ECO:0000269|PubMed:10873650, ECO:0000269|PubMed:12062018, ECO:0000269|PubMed:19303059, ECO:0000269|PubMed:20410308, ECO:0000269|PubMed:23512658, ECO:0000269|PubMed:24781215, ECO:0000269|PubMed:9875212}.
    結構域: 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 WBP11, ATN1, SF3B1 and the C-terminal domain of the RNA polymerase II large subunit.; Except for the WW domain, the protein is intrinsically disordered.
    亞細胞定位: Nucleus {ECO:0000269|PubMed:10198427, ECO:0000269|PubMed:10332029, ECO:0000269|PubMed:12062018, ECO:0000269|PubMed:23512658}. Nucleus speckle {ECO:0000250}. Note=Colocalizes with SRSF2 in nuclear speckles (By similarity). Colocalized with POU3F2. Colocalized with ATXN1 in nuclear inclusion bodies. {ECO:0000250}.
    組織特異性: Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes. {ECO:0000269|PubMed:10198427, ECO:0000269|PubMed:10332029}.
    相關疾病 : DISEASE: Renpenning syndrome 1 (RENS1) [MIM:309500]: A X-linked mental retardation syndrome characterized by 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. {ECO:0000269|PubMed:14634649, ECO:0000269|PubMed:16740914}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    相似的序列: Contains 1 WW domain. {ECO:0000255|PROSITE-ProRule:PRU00224}.
    General information above from UniProt

    PQBP1 別稱

    PQBP1 相關文獻

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