PNKP - polynucleotide kinase 3'-phosphatase Gene
Also Known as PNK; AOA4; MCSZ; CMT2B2; EIEE10
Species: Homo sapiens
About PNKP
This gene has 31 transcripts (splice variants), 188 orthologues and is associated with 7 phenotypes. Ubiquitous expression in spleen (RPKM 18.2), adrenal (RPKM 13.4) and 25 other tissues.
Summary
This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
PNKP Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_007254.4 | NP_009185.2 | bifunctional polynucleotide phosphatase/kinase |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity |
IDA
IDA: Inferred from direct assay
|
10446193 | GOA |
| enables polynucleotide 3'-phosphatase activity |
IDA
IDA: Inferred from direct assay
|
10446192 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15385968 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA ligation involved in DNA repair |
IDA
IDA: Inferred from direct assay
|
15385968 | GOA |
| involved in DNA repair |
IGI
IGI: Inferred from genetic interaction
|
10446192 | GOA |
| involved in double-strand break repair via nonhomologous end joining |
IDA
IDA: Inferred from direct assay
|
15385968 | GOA |
| involved in negative regulation of protein ADP-ribosylation |
IMP
IMP: Inferred from mutant phenotype
|
28002403 | GOA |
| involved in positive regulation of double-strand break repair via nonhomologous end joining |
IMP
IMP: Inferred from mutant phenotype
|
12032095 | GOA |
| acts upstream of or within positive regulation of telomere maintenance |
IMP
IMP: Inferred from mutant phenotype
|
21531765 | GOA |
| involved in response to oxidative stress |
IDA
IDA: Inferred from direct assay
|
10446192 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10446193 | GOA |
| is active in site of double-strand break |
IDA
IDA: Inferred from direct assay
|
28453785 | GOA |
PNKP Protein Structure
PNK3P: Polynucleotide kinase 3 phosphatase (166 - 328)
AAA_33: AAA domain (367 - 489)
- 0
- 100
- 200
- 300
- 400
- 521 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
bifunctional polynucleotide phosphatase/kinase |
|
PNKP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PNKP | Q96T60 | PNMA5 | Homo sapiens | Q96PV4 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | PNMA5 | Homo sapiens | Q96PV4 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | ZBTB14 | Homo sapiens | O43829 | 25416956 | |
|
Intra
|
PNKP | Q96T60 | ZBTB14 | Homo sapiens | O43829 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | ZBTB14 | Homo sapiens | O43829 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | ZBTB14 | Homo sapiens | O43829 | 25416956 | |
|
Intra
|
PNKP | Q96T60 | SP4 | Homo sapiens | Q02446 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SP4 | Homo sapiens | Q02446 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CCDC43 | Homo sapiens | Q86WV7 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CCDC43 | Homo sapiens | Q86WV7 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CISD2 | Homo sapiens | Q8N5K1 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CISD2 | Homo sapiens | Q8N5K1 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SNX2 | Homo sapiens | O60749 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SNX2 | Homo sapiens | O60749 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | PSTPIP1 | Homo sapiens | O43586 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | PSTPIP1 | Homo sapiens | O43586 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | RPRM | Homo sapiens | Q9NS64 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | RPRM | Homo sapiens | Q9NS64 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | RPRM | Homo sapiens | Q9NS64 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | GAS8 | Homo sapiens | O95995 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | GAS8 | Homo sapiens | O95995 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SYNGR3 | Homo sapiens | O43761 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SYNGR3 | Homo sapiens | O43761 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | MGST2 | Homo sapiens | Q99735 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | MGST2 | Homo sapiens | Q99735 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | MGST2 | Homo sapiens | Q99735 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | IKZF1 | Homo sapiens | Q13422-7 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | IKZF1 | Homo sapiens | Q13422-7 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CAMK2B | Homo sapiens | Q13554-3 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CAMK2B | Homo sapiens | Q13554-3 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TMEM239 | Homo sapiens | Q8WW34-2 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TMEM239 | Homo sapiens | Q8WW34-2 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CCDC14 | Homo sapiens | Q49A88-3 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CCDC14 | Homo sapiens | Q49A88-3 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SYNGR1 | Homo sapiens | O43759-2 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SYNGR1 | Homo sapiens | O43759-2 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TBC1D1 | Homo sapiens | Q86TI0 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TBC1D1 | Homo sapiens | Q86TI0 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | FOXO3 | Homo sapiens | O43524 | 25609649 | |
|
Intra
|
PNKP | Q96T60 | COL17A1 | Homo sapiens | Q9UMD9 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | COL17A1 | Homo sapiens | Q9UMD9 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | COL17A1 | Homo sapiens | Q9UMD9 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | KANK2 | Homo sapiens | Q63ZY3 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | KANK2 | Homo sapiens | Q63ZY3 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SFT2D1 | Homo sapiens | Q8WV19 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SFT2D1 | Homo sapiens | Q8WV19 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | MCC | Homo sapiens | P23508 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | MCC | Homo sapiens | P23508 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
PNKP | Q96T60 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
PNKP | Q96T60 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
PNKP | Q96T60 | TNIP1 | Homo sapiens | Q15025 | 25416956 | |
|
Intra
|
PNKP | Q96T60 | TNIP1 | Homo sapiens | Q15025 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TNIP1 | Homo sapiens | Q15025 | 25416956 | |
|
Intra
|
PNKP | Q96T60 | TNIP1 | Homo sapiens | Q15025 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TNIP1 | Homo sapiens | Q15025 | 25416956 | |
|
Intra
|
PNKP | Q96T60 | CARD10 | Homo sapiens | Q9BWT7 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CARD10 | Homo sapiens | Q9BWT7 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CARD10 | Homo sapiens | Q9BWT7 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | FADS6 | Homo sapiens | Q8N9I5 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | FADS6 | Homo sapiens | Q8N9I5 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | XRCC4 | Homo sapiens | Q13426 | 15385968 | |
|
Intra
|
PNKP | Q96T60 | XRCC4 | Homo sapiens | Q13426 | 15385968 | |
|
Intra
|
PNKP | Q96T60 | XRCC4 | Homo sapiens | Q13426 | 17353931 | |
|
Intra
|
PNKP | Q96T60 | XRCC4 | Homo sapiens | Q13426 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | XRCC4 | Homo sapiens | Q13426 | 38225382 | |
|
Intra
|
PNKP | Q96T60 | XRCC4 | Homo sapiens | Q13426 | 15385968 | |
|
Intra
|
PNKP | Q96T60 | XRCC4 | Homo sapiens | Q13426 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | DVL3 | Homo sapiens | Q92997 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | DVL3 | Homo sapiens | Q92997 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | KLHL12 | Homo sapiens | Q53G59 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | KLHL12 | Homo sapiens | Q53G59 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | THAP1 | Homo sapiens | Q9NVV9 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | THAP1 | Homo sapiens | Q9NVV9 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | THAP1 | Homo sapiens | Q9NVV9 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TRIM37 | Homo sapiens | O94972 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TRIM37 | Homo sapiens | O94972 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | IKZF1 | Homo sapiens | Q13422 | 25416956 | |
|
Intra
|
PNKP | Q96T60 | MSANTD4 | Homo sapiens | Q8NCY6 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | MSANTD4 | Homo sapiens | Q8NCY6 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | PICK1 | Homo sapiens | Q9NRD5 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | PICK1 | Homo sapiens | Q9NRD5 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | PICK1 | Homo sapiens | Q9NRD5 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CACFD1 | Homo sapiens | Q9UGQ2 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CACFD1 | Homo sapiens | Q9UGQ2 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CACFD1 | Homo sapiens | Q9UGQ2 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SYP | Homo sapiens | P08247 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | SYP | Homo sapiens | P08247 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CNTROB | Homo sapiens | Q8N137 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | CNTROB | Homo sapiens | Q8N137 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | XRCC1 | Homo sapiens | P18887 | 17353931 | |
|
Intra
|
PNKP | Q96T60 | ZNF639 | Homo sapiens | Q9UID6 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | ZNF639 | Homo sapiens | Q9UID6 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | ZNF639 | Homo sapiens | Q9UID6 | 25416956 | |
|
Intra
|
PNKP | Q96T60 | ZNF639 | Homo sapiens | Q9UID6 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TARBP2 | Homo sapiens | Q15633 | 32296183 | |
|
Intra
|
PNKP | Q96T60 | TARBP2 | Homo sapiens | Q15633 | 32296183 |
Recombinant PNKP Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71620 | PNKP Protein, Human (His-SUMO) | Q96T60-1 (M1-G521) | ≥ 90%, as determined by reducing SDS-PAGE. |
PNKP Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83422 | PNKP Antibody (YA3167) | WB, IHC-P, IP | Human |
| HY-P83422A | PNKP Antibody (YA3167)(PBS only) | WB, IHC-P, IP | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ataxia-Oculomotor Apraxia 4 |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
|
|
| Microcephaly, Seizures, And Developmental Delay |
|
|
| Congenital Nervous System Abnormality |
|
|
| Developmental And Epileptic Encephalopathy 12 |
|
|
| Nervous System Disease |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
|
| Primary Microcephaly |
|
|
| Apraxia |
|
|
| Oculomotor Apraxia |
|
|
| Spinocerebellar Ataxia Type 1 With Axonal Neuropathy |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
|
| Microcephaly |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
|
| Ataxia-Oculomotor Apraxia 3 |
|
|
| Developmental And Epileptic Encephalopathy 8 |
|
|
| Pilocytic Astrocytoma Of Cerebellum |
|
|
| Lig4 Syndrome |
|
|
| Ataxia-Telangiectasia |
|
|
| Cerebellar Astrocytoma |
|
|
| Usher Syndrome, Type If |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Hereditary Ataxia |
|
|
| Cerebellar Disease |
|
|
| Primary Autosomal Recessive Microcephaly |
|
|
| Seckel Syndrome |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| West Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | PNKP | VGNC | VGNC:44743 |
| Felis catus | PNKP | VGNC | VGNC:97559 |
| Macaca mulatta | PNKP | VGNC | VGNC:76196 |
| Mus musculus | PNKP | MGD | MGI:1891698 |
| Bos taurus | PNKP | VGNC | VGNC:33081 |
| Rattus norvegicus | PNKP | RGD | RGD:1303331 |
| Others | PNKP | NCBI |