PQBP1

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]

Description

polyglutamine binding protein 1

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

X:p11.23 (48897912 - 48903143)

Ensembl ID

ENSG00000102103  (ver. 84.38)

Orthologs

Mouse Pqbp1: ENSMUSG00000031157

UniProt

O60828

neXtProt

NX_O60828

Human splice variants
Mouse splice variants