dkc1 dyskeratosis congenita 1, dyskerin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dkc1provided by ZNC
Official Full Name: dyskeratosis congenita 1, dyskerinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-031118-120
See related: Ensembl:ENSDARG00000016484 AllianceGenome:ZFIN:ZDB-GENE-031118-120
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: fc87a02; fi24a05; fv62a07; wu:fa28f10; wu:fc87a02; wu:fi24a05; wu:fv62a07; zgc:110395
Summary: Predicted to enable pseudouridine synthase activity. Acts upstream of or within definitive hemopoiesis and rRNA processing. Predicted to be part of box H/ACA snoRNP complex. Is expressed in central nervous system; optic tectum; and proliferative region. Used to study dyskeratosis congenita. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita; aplastic anemia; and dyskeratosis congenita. Orthologous to human DKC1 (dyskerin pseudouridine synthase 1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	21	NC_007132.7 (43702016..43716689)
105	previous assembly	GRCz10 (GCF_000002035.5)	21	NC_007132.6 (43706840..43721513)

Chromosome 21 - NC_007132.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deficiency in dkc1 and nola1 in the H/ACA RNP complex likely contributes to the hematopoietic phenotype through p53 activation associated with rRNA processing defects during the initial stage of Dyskeratosis congenita pathogenesis.
Title: Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing.

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General gene information

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Markers

fa28f10.s1 (e-PCR)
- UniSTS:202504

fi18h07.x1 (e-PCR)
- UniSTS:196964

fi24a05.x1 (e-PCR)
- UniSTS:197075

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables pseudouridine synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pseudouridine synthase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA modification	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within RNA processing	IEA Inferred from Electronic Annotation more info
involved_in box H/ACA sno(s)RNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within definitive hemopoiesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within definitive hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within pseudouridine synthesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in snRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Cajal body	IEA Inferred from Electronic Annotation more info
part_of box H/ACA snoRNP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: H/ACA ribonucleoprotein complex subunit DKC1

Names: dyskerin

NP_001028279.2

EC 5.4.99.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001033107.2 → NP_001028279.2 H/ACA ribonucleoprotein complex subunit DKC1

Status: VALIDATED

Source sequence(s)

AI477080, AI477818, BC047840, CR792441, CV103822, EB834134

UniProtKB/Swiss-Prot

A0A8M1N7N6, F1Q749

UniProtKB/TrEMBL

Q7ZUT3

Related

ENSDARP00000007628.9, ENSDART00000017176.10

Conserved Domains (4) summary

cd02572
Location:83 → 265

PseudoU_synth_hDyskerin; Pseudouridine synthase, human dyskerin like

TIGR00425
Location:51 → 376

CBF5; rRNA pseudouridine synthase, putative

pfam01472
Location:292 → 365

PUA; PUA domain

pfam08068
Location:44 → 101

DKCLD; DKCLD (NUC011) domain