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Gene: PQBP1 (polyglutamine binding protein 1) Homo sapiens
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Symbol: PQBP1
Name: polyglutamine binding protein 1
Description: 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-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
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
Orthologs:
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)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

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

CRRD Object Information
CRRD ID: 1604644
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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