| Gene Information | |
|---|---|
| Gene Name | PNKD |
| Organism | Homo sapiens (Human) |
| Gene Length | 385 |
| Protein Names | Probable hydrolase PNKD (EC 3.-.-.-) (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000127838 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | Q8N490 |
| Gene Card | PNKD |
| Uniprot ID | Q8N490 |
| Pfam | PF16123; PF00753 |
| In ASD | no |
| Allosteric Prediction | no (-0.21765683) |
| Ortholog in Animals | Alpaca_ PNKD ( ortholog_one2one ) Dog_ PNKD ( ortholog_one2one ) GuineaPig_ PNKD ( ortholog_one2one ) Macaque_ PNKD ( ortholog_one2one ) Mouse_ Pnkd ( ortholog_one2one ) Pig_ PNKD ( ortholog_one2one ) Rat_ Pnkd ( ortholog_one2one ) Rabbit_ PNKD ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ETHE1, MBLAC2, HAGHL, HAGH |
| Tissue | NA |
| Tissue Specificity | Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only. {ECO:0000269|PubMed:15188056, ECO:0000269|PubMed:15262732, ECO:0000269|PubMed:15496428}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs121434512 rs121434511 |
| Subcellular location [CC] | [Isoform 1]: Membrane; Peripheral membrane protein.; [Isoform 2]: Cytoplasm. Nucleus.; [Isoform 3]: Mitochondrion. |
| Mouse PG classification | NA |
| click here to return to the previous page | |