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Gene: PQBP1 (polyglutamine binding protein 1) Homo sapiens
Symbol: PQBP1
Name: polyglutamine binding protein 1
Description: Exhibits double-stranded DNA binding activity and ribonucleoprotein complex binding activity. Involved in several processes, including alternative mRNA splicing, via spliceosome; cellular response to exogenous dsRNA; and regulation of defense response. Localizes to the cytosol and nuclear speck. Implicated in Renpenning syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 38 kDa nuclear protein containing a WW domain; mental retardation, X-linked 2 (non-dysmorphic); mental retardation, X-linked 55; MRX2; MRX55; MRXS3; MRXS8; NPW38; nuclear protein containing WW domain 38 kD; polyglutamine tract-binding protein 1; polyglutamine-binding protein 1; PQBP-1; Renpenning syndrome 1; RENS1; SHS
Mus musculus (house mouse) : Pqbp1 (polyglutamine binding protein 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pqbp1 (polyglutamine binding protein 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pqbp1 (polyglutamine binding protein 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PQBP1 (polyglutamine binding protein 1)
Canis lupus familiaris (dog) : PQBP1 (polyglutamine binding protein 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pqbp1 (polyglutamine binding protein 1)
Sus scrofa (pig) : PQBP1 (polyglutamine binding protein 1)
Chlorocebus sabaeus (African green monkey) : PQBP1 (polyglutamine binding protein 1)
Heterocephalus glaber (naked mole-rat) : Pqbp1 (polyglutamine binding protein 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 EnsemblX48,890,197 - 48,903,143 (+)Ensembl
GRCh38X48,897,862 - 48,903,145 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,755,160 - 48,760,422 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,640,139 - 48,645,364 (+)NCBINCBI36hg18NCBI36
CeleraX52,903,108 - 52,908,335 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,411,224 - 46,416,455 (+)NCBIHuRef
CHM1_1X48,786,337 - 48,791,564 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on PQBP1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1604644
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.