• Gene id: 10084

Gene Summary

• Gene Symbol: PQBP1   Gene   UCSC   Ensembl
• Aliases: MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
• Gene name: polyglutamine binding protein 1
• Alternate names: polyglutamine-binding protein 1, 38 kDa nuclear protein containing a WW domain, polyglutamine tract-binding protein 1,
• Gene location: Xp11.23 (48897861: 48903144)     Exons: 8     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 162250

Protein Summary

• Protein general information: O60828  
  • Name: Polyglutamine binding protein 1 (PQBP 1) (38 kDa nuclear protein containing a WW domain) (Npw38) (Polyglutamine tract binding protein 1)
  • Length: 265  
  • Mass: 30472
  • Tissue specificity: Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes. {ECO
• Sequence:

  MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSW
  LSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVD
  RERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRN
  EAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD

• Structural information:
  • Protein Domains: (46..8-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224"-)
  • Interpro: IPR036249  IPR001202  IPR036020  
  • Prosite: PS50020
  • CDD: cd00201
  • PDB: 4BWQ 4BWS 4CDO
  • PDBsum: 4BWQ 4BWS 4CDO
  • STRING: ENSP00000218224
• Other Databases: GeneCards:  PQBP1  Malacards:  PQBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0016604	nuclear body	IBA	cellular component
GO:0043021	ribonucleoprotein complex binding	IBA	molecular function
GO:0043484	regulation of RNA splicing	IBA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0002230	positive regulation of defense response to virus by host	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0031175	neuron projection development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016607	nuclear speck	ISS	cellular component
GO:0000380	alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0043021	ribonucleoprotein complex binding	IDA	molecular function
GO:0043484	regulation of RNA splicing	IMP	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071598	neuronal ribonucleoprotein granule	IEA	cellular component
GO:0048814	regulation of dendrite morphogenesis	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000380	alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Renpenning syndrome	KEGG:H01913
Renpenning syndrome	KEGG:H01913
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray