Pqbp1 - polyglutamine binding protein 1 Gene
Also Known as Sfc2; npw38; PQBP-1
Species: Mus musculus
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 |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
polyglutamine-binding protein 1 |
|
|