Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10084
Gene name	Polyglutamine binding protein 1
Gene symbol	PQBP1
Synonyms (NCBI Gene)	MRX2MRX55MRXS3MRXS8NPW38RENS1SHS
Chromosome	X
Chromosome location	Xp11.23
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-li

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917899	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231193	AGAG>-,AG,AGAGAG	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs606231197	GAGCTGGCTCCCTATCCCAAGAG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs782547972	AGACCGGGGCCACGACAAGTC>-	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, inframe deletion
rs886044823	CAGA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557041239	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1602330420	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1602330603	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023988	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT030062	hsa-miR-26b-5p	Microarray	19088304
MIRT045513	hsa-miR-149-5p	CLASH	23622248
MIRT039988	hsa-miR-615-3p	CLASH	23622248

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IBA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IEA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IMP	23512658
GO:0002218	Process	Activation of innate immune response	IDA	26046437
GO:0002230	Process	Positive regulation of defense response to virus by host	IDA	26046437
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	TAS	9875212
GO:0003690	Function	Double-stranded DNA binding	IDA	26046437
GO:0003713	Function	Transcription coactivator activity	TAS	10198427
GO:0005515	Function	Protein binding	IPI	16713569, 19303059, 20307692, 25416956, 26046437, 26871637, 27314904, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10198427
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	10198427
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016604	Component	Nuclear body	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0016607	Component	Nuclear speck	ISS
GO:0031175	Process	Neuron projection development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0032481	Process	Positive regulation of type I interferon production	IDA	26046437
GO:0036064	Component	Ciliary basal body	IDA
GO:0043021	Function	Ribonucleoprotein complex binding	IBA
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	23512658
GO:0043484	Process	Regulation of RNA splicing	IMP	23512658
GO:0045087	Process	Innate immune response	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IEA
GO:0051607	Process	Defense response to virus	IDA	26046437
GO:0071360	Process	Cellular response to exogenous dsRNA	IDA	26046437
GO:0071598	Component	Neuronal ribonucleoprotein granule	IEA
GO:0120025	Component	Plasma membrane bounded cell projection	IEA

MIM	HGNC	e!Ensembl
300463	9330	ENSG00000102103

O60828

Protein name

Polyglutamine-binding protein 1 (PQBP-1) (38 kDa nuclear protein containing a WW domain) (Npw38) (Polyglutamine tract-binding protein 1)

Protein function

Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:1206201

PDB

4BWQ , 4BWS , 4CDO

Family and domains

Tissue specificity

TISSUE SPECIFICITY: 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}.

Sequence

MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSC
GLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRS
HEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHR
REELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD

Sequence length

265

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs2063451959	RCV003127736
Delayed speech and language development	Likely pathogenic; Pathogenic	rs606231193	RCV000414864
Hyperactivity	Likely pathogenic; Pathogenic	rs606231193	RCV000414864
Intellectual disability	Likely pathogenic; Pathogenic	rs606231193, rs1557041672	RCV000850214 RCV005626141
Microcephaly	Likely pathogenic; Pathogenic	rs606231193, rs1602333390	RCV000414864 RCV000790435
PQBP1-related disorder	Pathogenic; Likely pathogenic	rs606231193, rs1557041672	RCV004745153 RCV003892507
Renpenning syndrome	Likely pathogenic; Pathogenic	rs2063344708, rs2147472456, rs2147468376, rs2147475642, rs2519613503, rs2519629641, rs606231193, rs606231196, rs606231197, rs121917899, rs2519619667, rs2519618086, rs1557041672, rs1602332039, rs1602330420, rs2063444025, rs2063451959 View all (2 more)	RCV001332660 RCV002253997 RCV002245272 RCV002254145 RCV002465378 RCV003150910 RCV000011726 RCV000011727 RCV000011728 RCV000011729 RCV000011730 RCV000011732 RCV003444033 RCV004515777 RCV000680077 RCV000995613 RCV001007842 RCV001197974 RCV001255844
See cases	Likely pathogenic; Pathogenic	rs606231193	RCV001420268

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs781958954	RCV005902214
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs112261029	RCV005919460
Familial pancreatic carcinoma	Benign	rs112261029	RCV005919458
Hepatocellular carcinoma	Benign; Uncertain significance	rs741932, rs2519620351	RCV005886503 RCV005932804
History of neurodevelopmental disorder	Benign; Uncertain significance	rs741932, rs1569510706	RCV000715350 RCV000721025
Lymphoma	Likely benign; Benign	rs781841269, rs112261029	RCV005917647 RCV005919459
Mild intellectual disability	Conflicting classifications of pathogenicity	rs907427275	RCV001263095
Nonpapillary renal cell carcinoma	Benign	rs112261029, rs150603792	RCV005919456 RCV005900618
Ovarian cancer	Benign	rs112261029	RCV005919457
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs782015028	RCV005908830

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	34493366
Developmental Disabilities	Associate	36797465
Growth Disorders	Associate	16740914
Heart Septal Defects Atrial	Associate	16740914
Intellectual Disability	Associate	21267006, 24781215, 27456546, 30500859, 32041777, 9545405
Mental Retardation X Linked	Associate	16740914, 20410308, 24781215, 36797465, 9545405
Microcephaly	Associate	16740914
Pathological Conditions Anatomical	Associate	33001864
Renpenning syndrome 1	Associate	16740914, 20410308, 26046437, 27456546, 31698189, 32041777, 33001864, 33477035, 36797465, 9545405
Sveinsson Chorioretinal Atrophy	Stimulate	34493366

PQBP1 (polyglutamine binding protein 1)