| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1736 |
Name | DKC1 |
Synonymous | dyskeratosis congenita 1, dyskerin;DKC1;dyskeratosis congenita 1, dyskerin |
Definition | CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1 |
Position | Xq28 |
Gene Type | protein-coding |
Gene Regulation: | Transcription Factors Post Transcriptional Modification From dbPTM Methylation Profile From DiseaseMeth database |
Transcription Factors [Top] |
Regulation From TransFac database | DKC1(h) --> dkc1(h) (expression). | dkc1(h) + EF1G(h) <==> dkc1(h):EF1G(h) (binding) | rps19(h) + dkc1(h) <==> rps19(h):dkc1(h) (binding) | rps19(h) + dkc1(h) <==> rps19(h):dkc1(h) (binding) | DKC1(h) --> dkc1(h) (expression). |
|---|
Post Transcriptional Modification [Top] | |||
Location (AA) | PTM type | Literature | Database | 2 | N-acetylalanine. | Swiss-Prot 53.0 | 21 | Phosphoserine. | Swiss-Prot 53.0 | 451 | Phosphoserine. | Swiss-Prot 53.0 | 453 | Phosphoserine. | Swiss-Prot 53.0 | 455 | Phosphoserine. | Swiss-Prot 53.0 | 458 | Phosphothreonine. | Swiss-Prot 53.0 | 485 | Phosphoserine (By similarity). | Swiss-Prot 53.0 | 494 | Phosphoserine. | Swiss-Prot 53.0 | 513 | Phosphoserine. | Swiss-Prot 53.0 | 493 | Phosphoserine | 15302935;17081983 | Phospho.ELM 6.0 | 512 | Phosphoserine | 15302935;17081983 | Phospho.ELM 6.0 | 450 | Phosphoserine | 16083285;17081983 | Phospho.ELM 6.0 | 452 | Phosphoserine | 16083285;17081983 | Phospho.ELM 6.0 | 454 | Phosphoserine | 16083285;17081983 | Phospho.ELM 6.0 | 20 | Phosphoserine | 16565220;17081983 | Phospho.ELM 6.0 | 457 | Phosphothreonine | 17081983 | Phospho.ELM 6.0 | 484 | Phosphoserine | 17081983 | Phospho.ELM 6.0 |
|---|---|---|---|
Methylation Profile [Top] | ||
Chromosome | Location | Source |
|---|---|---|
chrX |
Promoter: 153642844 - 153644844 | Agilent_014791 |
chrX |
Promoter: 153642844 - 153644844 | GoldenGate_Methylation_Cancer_Panel_I |
chrX |
Promoter: 153642844 - 153644844 | GSE27584 |
chrX |
Promoter: 153642844 - 153644844 | Agilent_014791_44K |