| Gene Information | |
|---|---|
| Gene Name | DKC1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 514 |
| Protein Names | H/ACA ribonucleoprotein complex subunit DKC1 (EC 5.4.99.-) (CBF5 homolog) (Dyskerin) (Nopp140-associated protein of 57 kDa) (Nucleolar protein NAP57) (Nucleolar protein family A member 4) (snoRNP protein DKC1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000130826 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | O60832 |
| Gene Card | DKC1 |
| Uniprot ID | O60832 |
| Pfam | PF08068; PF01472; PF16198; PF01509 |
| In ASD | no |
| Allosteric Prediction | no (-0.098021926) |
| Ortholog in Animals | Alpaca_ DKC1 ( ortholog_one2many ) Dog_ DKC1 ( ortholog_one2one ) GuineaPig_ DKC1 ( ortholog_one2one ) Macaque_ DKC1 ( ortholog_one2one ) Mouse_ Dkc1 ( ortholog_one2one ) Pig_ DKC1 ( ortholog_one2one ) Rabbit_ DKC1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Ubiquitously expressed. {ECO:0000269|PubMed:10903840}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.054545(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 7BGB (EM 3.39A ) 7TRC (EM 3.30A ) 7V9A (EM 3.94A ) |
| DBSNP | rs121912303 rs121912293 rs137854489 rs28936072 rs121912296 rs121912292 rs121912302 rs121912304 rs121912287 rs121912301 rs121912297 rs121912306 rs121912294 rs121912305 rs2728533 rs121912290 rs2728726 rs121912291 rs121912298 rs121912300 rs121912288 rs121912295 rs121912299 rs121912289 |
| Subcellular location [CC] | [Isoform 1]: Nucleus, nucleolus {ECO:0000269|PubMed:10556300, ECO:0000269|PubMed:10591218, ECO:0000269|PubMed:12429849}. Nucleus, Cajal body {ECO:0000250|UniProtKB:P40615}. Note=Also localized to Cajal bodies (coiled bodies). {ECO:0000250|UniProtKB:P40615}.; [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:21820037}. |
| Mouse PG classification | NA |
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