InnateDB Protein
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IDBP-236798.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PQBP1
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Protein Name
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polyglutamine binding protein 1
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Synonyms
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MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379985
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InnateDB Gene
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IDBG-64349 (PQBP1)
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Protein Structure
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Function |
Probably functions as scaffold protein that is part of numerous complexes and thereby plays a role in pre-mRNA splicing, transcription regulation and neuron development. Required for normal alternative splicing of target pre-mRNA species (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. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. {ECO:0000269PubMed:10198427, ECO:0000269PubMed:10332029, ECO:0000269PubMed:12062018, ECO:0000269PubMed:20410308, ECO:0000269PubMed:23512658}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:10198427, ECO:0000269PubMed:10332029, ECO:0000269PubMed:12062018, ECO:0000269PubMed: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}.
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Disease Associations |
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:0000269PubMed:14634649, ECO:0000269PubMed:16740914}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes. {ECO:0000269PubMed:10198427, ECO:0000269PubMed:10332029}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
45
[view]
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Protein-Protein |
44
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001202
WW domain
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PFAM |
PF00397
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PRINTS |
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PIRSF |
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SMART |
SM00456
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TIGRFAMs |
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Modification |
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SwissProt |
O60828
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PhosphoSite |
PhosphoSite-O60828
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TrEMBL |
C9JQA1
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UniProt Splice Variant |
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Entrez Gene |
10084
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UniGene |
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RefSeq |
NP_001027556
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HUGO |
HGNC:9330
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OMIM |
300463
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CCDS |
CCDS14309
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HPRD |
02354
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IMGT |
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EMBL |
AB016533
AB041832
AB041833
AB041834
AB041835
AB041836
AF207550
AJ005893
AJ242829
AJ973593
AJ973594
AJ973595
AJ973596
AJ973597
AJ973598
AJ973599
AJ973600
AJ973601
AJ973602
AJ973603
AJ973605
AJ973606
AJ973607
BC012358
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GenPept |
AAH12358
BAA76400
BAB16702
BAB16703
BAB16704
BAB16705
BAB16706
BAB16707
BAB16708
BAB16709
CAA06750
CAB44309
CAJ00537
CAJ00538
CAJ00539
CAJ00540
CAJ00541
CAJ00542
CAJ00543
CAJ00544
CAJ00545
CAJ00546
CAJ00547
CAJ00548
CAJ00549
CAJ00550
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