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PQBP1 polyglutamine binding protein 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001032381 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001032382 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001032383 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001032384 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001167989 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 8, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001167990 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 9, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001167992 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 10, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_005710 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_144495 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 7, mRNA. GenEZ ORF Cloning On-demand $399.00 14
XM_005272571 PREDICTED: Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $449.00 14
XM_005272572 PREDICTED: Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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Gene Symbol PQBP1
Entrez Gene ID 10084
Full Name polyglutamine binding protein 1
Synonyms MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
General protein information
Preferred Names
polyglutamine-binding protein 1
Names
polyglutamine-binding protein 1
polyglutamine tract-binding protein 1
nuclear protein containing WW domain 38 kD
38 kDa nuclear protein containing a WW domain
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

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-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009].
Disorder

MIM: 300463

Renpenning syndrome, 309500 (3); Golabi-Ito-Hall syndrome (3)

mRNA Protein Product Sequence Price Select
NM_001032381, 74027246 NP_001027553, 74027247 polyglutamine-binding protein 1 isoform 1 ORF Sequence $300.00
NM_001032382, 74027252 NP_001027554, 74027253 polyglutamine-binding protein 1 isoform 1 ORF Sequence $300.00
NM_001032383, 74027254 NP_001027555, 74027255 polyglutamine-binding protein 1 isoform 1 ORF Sequence $300.00
NM_001032384, 74027256 NP_001027556, 74027257 polyglutamine-binding protein 1 isoform 1 ORF Sequence $300.00
NM_001167989, 269784728 NP_001161461, 269784729 polyglutamine-binding protein 1 isoform 4 ORF Sequence $300.00
NM_001167990, 269784732 NP_001161462, 269784733 polyglutamine-binding protein 1 isoform 5 ORF Sequence $300.00
NM_001167992, 269784738 NP_001161464, 269784739 polyglutamine-binding protein 1 isoform 6 ORF Sequence $250.00
NM_005710, 74027245 NP_005701, 5031957 polyglutamine-binding protein 1 isoform 1 ORF Sequence $300.00
NM_144495, 269784718 NP_652766, 41281715 polyglutamine-binding protein 1 isoform 3 ORF Sequence $250.00
XM_005272571, 578838005 XP_005272628, 530421381 polyglutamine-binding protein 1 isoform X1 ORF Sequence $300.00
XM_005272572, 578838006 XP_005272629, 530421383 polyglutamine-binding protein 1 isoform X2 ORF Sequence $250.00
KEGG
hsa03040Spliceosome
hsa_M00353Spliceosome, Prp19/CDC5L complex
Homo sapiens (human)PQBP1NP_001027554.1
Pan troglodytes (chimpanzee)PQBP1XP_003954033.1
Macaca mulatta (Rhesus monkey)PQBP1XP_001104230.1
Canis lupus familiaris (dog)PQBP1XP_851217.2
Bos taurus (cattle)PQBP1NP_001039854.1
Mus musculus (house mouse)Pqbp1NP_001239457.1
Rattus norvegicus (Norway rat)Pqbp1NP_001013979.1
Danio rerio (zebrafish)pqbp1NP_001002435.1
Caenorhabditis eleganspqbp-1.1NP_499890.2
Caenorhabditis eleganspqbp-1.2NP_499914.1
Process
IDNameEvidence
GO:0000380alternative mRNA splicing, via spliceosomeIMP
GO:0006351transcription, DNA-templatedIEA
GO:0006355regulation of transcription, DNA-templatedIEA
GO:0031175neuron projection developmentISS
GO:0043484regulation of RNA splicingIMP
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0010494cytoplasmic stress granuleIEA
GO:0016607nuclear speckISS
GO:0071598neuronal ribonucleoprotein granuleIEA
Function
IDNameEvidence
GO:0003677DNA bindingTAS
GO:0003713transcription coactivator activityTAS
GO:0043021ribonucleoprotein complex bindingIDA
GeneCards PQBP1
UniProt O60828
Vega OTTHUMG00000024128
MIM 300463
Ensembl ENSG00000102103
HGNC 9330
HPRD 02354

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PQBP1 gene?

The PQBP1 gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins.

While the specific function of polyglutamine-binding protein 1 is not well understood, it is believed to play a role in processing and transporting RNA, a chemical cousin of DNA that serves as the genetic blueprint for the production of proteins.

In nerve cells (neurons) such as those in the brain, polyglutamine-binding protein 1 is found in structures called RNA granules. These granules allow the transport and storage of RNA within the cell. The RNA is held within the granules until the genetic information it carries is translated to produce proteins or until cellular signals or environmental factors trigger the RNA to be degraded. Through these mechanisms, polyglutamine-binding protein 1 is thought to help control the way genetic information is used (gene expression) in neurons. This control is important for normal brain development.

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