| Gene Information | |
|---|---|
| Gene Name | MR1 |
| 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 | major histocompatibility complex class i-related gene protein |
| Target Type | NA |
| Gene Age | 544 ( ENSG00000153029 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | Q8N490 |
| Gene Card | PNKD |
| Uniprot ID | Q8N490 |
| Pfam | PF16123; PF00753 |
| In ASD | no |
| Allosteric Prediction | no (-0.938945019) |
| Ortholog in Animals | Alpaca_ MR1 ( ortholog_one2one ) GuineaPig_ MR1 ( ortholog_one2one ) Macaque_ MR1 ( ortholog_one2one ) Mouse_ Mr1 ( ortholog_one2one ) Pig_ MR1 ( ortholog_one2one ) Rat_ Mr1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | HLA-B, HLA-E, HLA-A, HLA-F, HLA-G, HLA-C, CD1B, ULBP2, RAET1L, FCGRT, RAET1G, CD1A, CD1D, CD1C, RAET1E, ULBP3, ULBP1, CD1E, AZGP1, MICA, HFE, MICB |
| 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) |
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| 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 |
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