ENSDARG00000016484


Danio rerio

Features
Gene ID: ENSDARG00000016484
  
Biological name :dkc1
  
Synonyms : dkc1 / dyskeratosis congenita 1, dyskerin
  
Possible biological names infered from orthology : dyskerin pseudouridine synthase 1 / H/ACA ribonucleoprotein complex subunit 4 / O60832 / Q9ESX5
  
Species: Danio rerio
  
Chr. number: 21
Strand: 1
Band:
Gene start: 43702010
Gene end: 43716471
  
Corresponding Affymetrix probe sets: Dr.10556.1.S1_at (Zebrafish Array)   
  
Cross references: Ensembl peptide - ENSDARP00000007628
Ensembl peptide - ENSDARP00000105779
NCBI entrez gene - 613144     See in Manteia.
swissprot - E7F423
swissprot - F1Q749
ZFIN ID - ZDB-GENE-031118-120
Ensembl - ENSDARG00000016484
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 DKC1ENSGALG00000005054Gallus gallus
 DKC1ENSG00000130826Homo sapiens
 Dkc1ENSMUSG00000031403Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002478  PUA domain
 IPR002501  Pseudouridine synthase II, N-terminal
 IPR004802  tRNA pseudouridine synthase B family
 IPR012960  Dyskerin-like
 IPR015947  PUA-like superfamily
 IPR020103  Pseudouridine synthase, catalytic domain superfamily
 IPR032819  tRNA pseudouridylate synthase B, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000495 box H/ACA snoRNA 3"-end processing IBA
 biological_processGO:0001522 pseudouridine synthesis IEA
 biological_processGO:0006364 rRNA processing IMP
 biological_processGO:0006396 RNA processing IEA
 biological_processGO:0009451 RNA modification IEA
 biological_processGO:0031118 rRNA pseudouridine synthesis IBA
 biological_processGO:0031120 snRNA pseudouridine synthesis IBA
 biological_processGO:0060216 definitive hemopoiesis IMP
 biological_processGO:1990481 mRNA pseudouridine synthesis IBA
 cellular_componentGO:0031429 box H/ACA snoRNP complex IBA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0009982 pseudouridine synthase activity IBA


Pathways (from Reactome)
Pathway description
Telomere Extension By Telomerase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 ZFA:0000107 eye eye decreased size , abnormal
Show

 ZFA:0000114 heart heart edematous , abnormal
Show

 ZFA:0001114 head head decreased size , abnormal
Show

 ZFA:0009014 hematopoietic stem cell hematopoietic stem cell decreased amount , abnormal
Show

 ZFA:0009256 nucleate erythrocyte nucleate erythrocyte decreased amount , abnormal
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSDARG00000016484 dkc1 / dyskeratosis congenita 1, dyskerin / O60832* / Q9ESX5* / dyskerin pseudouridine synthase 1* / H/ACA ribonucleoprotein complex subunit 4 *  / complex






 

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