Pqbp1 - polyglutamine binding protein 1 Gene

Also Known as Sfc2; npw38; PQBP-1

Species: Mus musculus

Gene Type: protein coding
Gene ID: 54633

Summary

Predicted to enable double-stranded DNA binding activity; protein C-terminus binding activity; and ribonucleoprotein complex binding activity. Involved in alternative mRNA splicing, via spliceosome and neuron projection development. Acts upstream of or within regulation of dendrite morphogenesis. Located in cytoplasmic stress granule; neuronal ribonucleoprotein granule; and nuclear speck. Is expressed in several structures, including 1st branchial arch maxillary component; adrenal cortex; central nervous system; eye; and limb. Used to study Renpenning syndrome. Human ortholog(s) of this gene implicated in Renpenning syndrome. Orthologous to human PQBP1 (polyglutamine binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]

Pqbp1 Products (3)

mRNA Protein Name
NM_001252528.1 NP_001239457.1 polyglutamine-binding protein 1 isoform 1
NM_001252529.1 NP_001239458.1 polyglutamine-binding protein 1 isoform 2
NM_019478.4 NP_062351.2 polyglutamine-binding protein 1 isoform 1
Biological Process GO Annotation Evidence References Source
involved in alternative mRNA splicing, via spliceosome IMP
IMP: Inferred from mutant phenotype
23512658 MGI
involved in neuron projection development IMP
IMP: Inferred from mutant phenotype
23512658 MGI
acts upstream of or within regulation of dendrite morphogenesis IMP
IMP: Inferred from mutant phenotype
23512658 MGI
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
21933836 MGI
located in cytoplasmic stress granule IDA
IDA: Inferred from direct assay
21933836 MGI
located in neuronal ribonucleoprotein granule IDA
IDA: Inferred from direct assay
21933836 MGI
located in nuclear speck IDA
IDA: Inferred from direct assay
23512658 MGI
located in nucleus IDA
IDA: Inferred from direct assay
21933836 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

polyglutamine-binding protein 1

  • 38 kDa nuclear protein containing a WW domain

  • polyglutamine tract-binding protein 1

  • scurfy candidate 2

Orthologs Information

Species Symbol Source ID
Homo sapiens Pqbp1 NCBI NCBI:10084