Sequence in raw or FASTA format:
PQBP1 polyglutamine binding protein 1 [Homo sapiens (human)]
|Entrez Gene ID||10084|
|Full Name||polyglutamine binding protein 1|
|Synonyms||MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Renpenning syndrome, 309500 (3); Golabi-Ito-Hall syndrome (3)
|Homo sapiens (human)||PQBP1||NP_001027554.1|
|Pan troglodytes (chimpanzee)||PQBP1||XP_003954033.1|
|Macaca mulatta (Rhesus monkey)||PQBP1||XP_001104230.1|
|Canis lupus familiaris (dog)||PQBP1||XP_851217.2|
|Bos taurus (cattle)||PQBP1||NP_001039854.1|
|Mus musculus (house mouse)||Pqbp1||NP_001239457.1|
|Rattus norvegicus (Norway rat)||Pqbp1||NP_001013979.1|
|Danio rerio (zebrafish)||pqbp1||NP_001002435.1|
|GO:0000380||alternative mRNA splicing, via spliceosome||IMP|
|GO:0006355||regulation of transcription, DNA-templated||IEA|
|GO:0031175||neuron projection development||ISS|
|GO:0043484||regulation of RNA splicing||IMP|
|GO:0010494||cytoplasmic stress granule||IEA|
|GO:0071598||neuronal ribonucleoprotein granule||IEA|
|GO:0003713||transcription coactivator activity||TAS|
|GO:0043021||ribonucleoprotein complex binding||IDA|
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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