Pnkp - polynucleotide kinase 3'- phosphatase Gene
Also Known as PNK; 1810009G08Rik
Species: Mus musculus
Summary
Enables ubiquitin ligase-substrate adaptor activity. Involved in cellular response to DNA damage stimulus and protein K63-linked ubiquitination. Part of SCF ubiquitin Ligase complex. Is active in site of double-strand break. Is expressed in cerebellum; cerebral cortex; liver; and spleen. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2B2 and microcephaly, seizures, and developmental delay. Orthologous to human PNKP (polynucleotide kinase 3'-phosphatase). [provided by Alliance of Genome Resources, Apr 2022]
Pnkp Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001290764.1 | NP_001277693.1 | bifunctional polynucleotide phosphatase/kinase isoform a |
| NM_001290766.1 | NP_001277695.1 | bifunctional polynucleotide phosphatase/kinase isoform b |
| NM_001290767.1 | NP_001277696.1 | bifunctional polynucleotide phosphatase/kinase isoform c |
| NM_021549.3 | NP_067524.2 | bifunctional polynucleotide phosphatase/kinase isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ubiquitin-like ligase-substrate adaptor activity |
IDA
IDA: Inferred from direct assay
|
26774286 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA damage response |
IDA
IDA: Inferred from direct assay
|
26774286 | MGI |
| involved in protein K63-linked ubiquitination |
IDA
IDA: Inferred from direct assay
|
26774286 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of SCF ubiquitin ligase complex |
IDA
IDA: Inferred from direct assay
|
26774286 | MGI |
| is active in site of double-strand break |
IDA
IDA: Inferred from direct assay
|
26774286 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
bifunctional polynucleotide phosphatase/kinase |
|