Human Gene PQBP1 (uc004dln.3)
  Description: Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 8, mRNA.
RefSeq Summary (NM_001167989): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:48,755,195-48,760,422 Size: 5,228 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chrX:48,755,793-48,760,361 Size: 4,569 Coding Exon Count: 6 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:48,755,195-48,760,422)mRNA (may differ from genome)Protein (264 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIOMIMPubMed
ReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PQBP1
Diseases sorted by gene-association score: renpenning syndrome* (1709), microcephaly* (433), x-linked intellectual disability, golabi-ito-hall type* (350), x-linked intellectual disability, porteous type* (350), partington syndrome (9), syndromic x-linked intellectual disability (5), spastic cerebral palsy (4), congenital nervous system abnormality (1), specific developmental disorder (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.65 RPKM in Ovary
Total median expression: 1635.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.10121-0.282 Picture PostScript Text
3' UTR -15.1061-0.248 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  SCOP Domains:
51045 - WW domain

ModBase Predicted Comparative 3D Structure on O60828-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
 Protein Sequence  Protein Sequence 
 Alignment  Alignment 

-  Descriptions from all associated GenBank mRNAs
  AB016533 - Homo sapiens mRNA for nuclear protein containing a WW domain (Npw38), complete cds.
BC012358 - Homo sapiens polyglutamine binding protein 1, mRNA (cDNA clone MGC:20443 IMAGE:4662649), complete cds.
AJ242829 - Homo sapiens mRNA for PQBP-1 protein.
AJ005893 - Homo sapiens mRNA for JM26 protein, complete CDS (clone LLOXNC01U138D3 (Baylor College)).
AJ973604 - Homo sapiens partial mRNA for polyglutamine binding protein variant 12 (PQBP1 gene).
AJ973605 - Homo sapiens mRNA for polyglutamine binding protein variant 13 (PQBP1 gene).
AJ973593 - Homo sapiens mRNA for polyglutamine binding protein variant 1 (PQBP1 gene).
AJ973594 - Homo sapiens mRNA for polyglutamine binding protein variant 2 (PQBP1 gene).
AJ973595 - Homo sapiens mRNA for polyglutamine binding protein variant 3 (PQBP1 gene).
AJ973596 - Homo sapiens mRNA for polyglutamine binding protein variant 4 (PQBP1 gene).
AJ973597 - Homo sapiens mRNA for polyglutamine binding protein variant 5 (PQBP1 gene).
AJ973598 - Homo sapiens mRNA for polyglutamine binding protein variant 6 (PQBP1 gene).
AJ973599 - Homo sapiens mRNA for polyglutamine binding protein variant 7 (PQBP1 gene).
AJ973600 - Homo sapiens mRNA for polyglutamine binding protein variant 8 (PQBP1 gene).
AJ973602 - Homo sapiens mRNA for polyglutamine binding protein variant 10 (PQBP1 gene).
AJ973603 - Homo sapiens mRNA for polyglutamine binding protein variant 11 (PQBP1 gene).
AJ973606 - Homo sapiens mRNA for polyglutamine binding protein variant 14 (PQBP1 gene).
AJ973607 - Homo sapiens mRNA for polyglutamine binding protein variant 15 (PQBP1 gene).
AJ973601 - Homo sapiens mRNA for polyglutamine binding protein variant 9 (PQBP1 gene).
CU680304 - Synthetic construct Homo sapiens gateway clone IMAGE:100023379 5' read PQBP1 mRNA.
KJ892912 - Synthetic construct Homo sapiens clone ccsbBroadEn_02306 PQBP1 gene, encodes complete protein.
KR710465 - Synthetic construct Homo sapiens clone CCSBHm_00013033 PQBP1 (PQBP1) mRNA, encodes complete protein.
AB385557 - Synthetic construct DNA, clone: pF1KB8001, Homo sapiens PQBP1 gene for polyglutamine-binding protein 1, complete cds, without stop codon, in Flexi system.
KU178500 - Homo sapiens polyglutamine binding protein 1 isoform 1 (PQBP1) mRNA, partial cds.
KU178501 - Homo sapiens polyglutamine binding protein 1 isoform 2 (PQBP1) mRNA, partial cds, alternatively spliced.
DQ892221 - Synthetic construct clone IMAGE:100004851; FLH184235.01X; RZPDo839D08144D polyglutamine binding protein 1 (PQBP1) gene, encodes complete protein.
DQ894883 - Synthetic construct Homo sapiens clone IMAGE:100009343; FLH184231.01L; RZPDo839D08143D polyglutamine binding protein 1 (PQBP1) gene, encodes complete protein.
AB041833 - Homo sapiens mRNA for PQBP-1a, complete cds.
AB041834 - Homo sapiens mRNA for PQBP-1b/c, complete cds.
AB041835 - Homo sapiens mRNA for PQBP-1b/c, complete cds.
AB041836 - Homo sapiens mRNA for PQBP-1d, complete cds.
JD548355 - Sequence 529379 from Patent EP1572962.
JD074258 - Sequence 55282 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

Reactome (by CSHL, EBI, and GO)

Protein O60828 (Reactome details) participates in the following event(s):

R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: JM26, NM_001167989, NPW38, NP_001161461, O60828-2
UCSC ID: uc004dln.3
RefSeq Accession: NM_001167989
Protein: O60828-2, splice isoform of O60828 CCDS: CCDS14309.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001167989.1
exon count: 7CDS single in 3' UTR: no RNA size: 994
ORF size: 795CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1790.00frame shift in genome: no % Coverage: 98.29
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.