PQBP1

Also known as MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS, polyglutamine binding protein 1

Polyglutamine-binding protein 1 (PQBP1) is a protein that in humans is encoded by the PQBP1 gene.

Gene data

PQBP1

Name: polyglutamine binding protein 1
Type: protein-coding
Chromosome: HSCHRX_3_CTG3
Position: 49,032–62,237 (+)
Aliases: MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
Ensembl: ENSG00000292208
RefSeq RNA: NM_001032381.2, NM_001032382.2, NM_001032383.2, NM_001032384.1, NM_001032385.1
RefSeq protein: NP_001027553.1, NP_001027554.1, NP_001027555.1, NP_001027556.1, NP_001161461.1

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].

Pathways

Spliceosome - Homo sapiens (human)Disease Infectious disease mRNA Splicing - Major Pathway mRNA Splicing Processing of Capped Intron-Containing Pre-mRNA Metabolism of RNA Viral Infection Pathways Dengue Virus Infection Dengue Virus-Host Interactions

via MyGene.info

Gene · Ensembl

polyglutamine binding protein 1

Symbol: PQBP1
Biotype: Protein coding
Organism: Homo sapiens
Location: Chr X:48,890,197-48,903,640
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

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Encyclopedic overview

6 sections

Contents

Function
Clinical significance
Animal models
References
Further reading
External links

Polyglutamine-binding protein 1 (PQBP1) is a protein that in humans is encoded by the PQBP1 gene.

Polyglutamine binding protein-1, which was identified as a binding protein to the polyglutamine tract sequence, is an evolutionally conserved protein expressed in various tissues including developmental and adult brains or mesodermal tissues. In cells, PQBP1 is dominantly located in the nucleus but also in the cytoplasm dependently on the cell type and stress conditions. PQBP1 has recently been found to play a role in the innate immune response of dendritic cells.

Excerpted from Wikipedia’s “PQBP1” article, available under the CC BY-SA 4.0 licence.