Geisha

home

contact

A chicken embryo gene expression database

	Anatomical Location
	Stage
	Gene Name
	GEISHA ID
	Multiple Parameters

Quick Search

Data Class

Enter Text:

Gene Family QuickSearch

	Transcription Factors
	Growth Factors
	Receptors
	MicroRNAs

Human Disease Gene Search

	Downloads
	Protocols
	About GEISHA
	Contact Us

	Transgenic Birds
	Model Organism Databases
	Gene Expression Databases
	Genomic Resources
	Anatomical Atlases
	Chicken Stage Series

DKC1
dyskerin pseudouridine synthase 1

The human orthologue of this gene is associated
with the following human diseases:

Gene

Official Symbol	DKC1
Official Full Name	dyskerin pseudouridine synthase 1
CGNC ID	3757
also known as	H/ACA ribonucleoprotein complex subunit DKC1\|dyskeratosis congenita 1, dyskerin\|h/ACA ribonucleoprotein complex subunit 4
gene type	protein-coding

Genomic Map

	Ensembl
	NCBI
	UCSC
	Gallus-Browse

Sequence Information

Genomic
RNA	NM_001031115
Polypeptide	NP_001026286
Sequence Clusters/ESTs	Unigene

Gene Expression

In Situ Hybridization	GEISHA
EST Profile	Gga.1015

Orthology

	Entrez Gene	Ensembl Gene	Genetic Phenotypes	MOD
Fruit Fly	37873			FBgn0259937
Human	1736	ENSG00000130826	MIM:305000	MIM:300126
Mouse	245474	ENSMUSG00000031403	All phenotypic alleles (9):Targeted, knock-out(4) Targeted, other(5)	MGI:1861727
Xenopus	100145077, 733436			5766173
Zebrafish	613144	ENSDARG00000016484	ZDB-GENE-031118-120	ZFIN:ZDB-GENE-031118-120

Gene Ontology

Molecular Function	pseudouridine synthase activity, RNA binding
Biological Process	pseudouridine synthesis, rRNA processing, telomere maintenance, telomere maintenance via telomerase
Cellular Component	nucleolus, nucleoplasm, ribonucleoprotein complex

Links to other databases

Entrez Gene	422196
Ensembl Gene	ENSGALG00000005054
KEGG	gga:422196

GEISHA Id	DKC1.Gammill.2002	Data Source	Publication
Complete cDNA Template Probe	show CCTTTCCGCTCTCGGCGCGGCGGCGGCACCACGCGGCGCGGCCATGGCGGACGGGGACGGTTCTTCCGTGAAGAAACGG CGGAAGAAGGACAAGCGGTCGCTGCCCGACGAGGATGTGGCGGACATCCAGCACACCGAGGAGTTCCTCATCAAGCCCG AGTCCCGCGTGGCACAGCTGGACACGTCCCAGTGGCCGCTGCTGCTGAAGAACTTTGACAAGCTAAACGTGCTGACAAC ACACTACACACCCCTCCCTTCCGGCGCTAATCCCTTGAAGAGGGAGATCTCTGACTATGTACGGTCTGGCTTCATCAAC CTGGACAAGCCTTCCAATCCATCTTCCCATGAGGTGGTGGCGTGGATCCGACGCATCCTTCGAGTAGAGAAGACGGGGC ACAGTGGCACCCTGGACCCTAAGGTGACCGGGTGCCTCATTGTGTGCATTGAGAGGGCGACACGGCTCGTCAAGTCTCA GCAGAGTGCAGGCAAAGAGTATGTGGGAATTGTTCGGCTGCACAATGCAATTGAAAGTGAGGCTCAGCTTGCCAGGGCA ATAGAAACTCTGACAGGAGCACTCTTCCAGCGACCACCTCTCATCGCTGCTGTTAAGCGACAGCTGAGAGTCAGAACCA TCTATGAGAGCAAGCTGGTGGAGTACGATCCTGAGAGAAGATTAGGTATCTTCTGGGTGAGCTGTGAAGCGGGCACGTA CATCCGAACGCTTTGTGTCCACCTTGGTTTGCTGCTTGGTGTTGGGGGCCAAATGCAGGAGCTCCGGAGAGTGCGGTCG GGCATCCTGGGAGAGATGGACAACATGGTGACCATGCACGACGTGCTGGATGCACAGTGGCAGTACGACAACAACAAGG ATGACAGCTACCTGCGGCGTGTCATCCTGCCCCTGGAGAAGCTGCTCACCTCACACAAGCGGCTCGTCATGAAAGACAG TGCGGTTAATGCCATTTGCTATGGAGCCAAGATCATGCTGCCCGGTGTCCTGAGGTACGAAGATGGTATTGAGCTTAAA CAGGAGATTGTAGTCATCACCACAAAAGGAGAAGCTATCTGCCTAGCCATTGCCTTGATGACAACTGCTGTCATTTCTA CCTGCGACCACGGCGTGGTAGCAAAGATCAAGAGAGTAATCATGGAGAGAGACACATATCCCCGTAAATGGGGCCTTGG TCCCAAGGCCAGTCAAAAGAAGATGATGATCCAGAAGGGCCTGCTGGACAAACACGGAAAGCCCAATGAGTGCACACCA GATTCCTGGAAGAAGGAATACGTGGATTACAGGGAGTCGTCCAAGAAAGAGGCAGCTAAAGTTCCCCAGGCTGTGTCAG AGGTGGAAAGGGCTCCAAAAAGGAAGAGAGAGTCAGAGAGTGAAAATGAGGCTGTGAGCCCCCCACCATCCCCAGCCAC TCCACCACCAGAGGAGCTGAGCAAAAAGGAGAAGAAAAAGAAGAAGAAGGAAAAGAAAGCCAAAGAAGCAGCTGAAAGT GGGGAAGAACAAGTAGAAGTGATCAGTGAAAGCAGCGCCAAGAAGAAGAAGAAAAAGAAGAAACAGAAGGAGGTAGAAG AGAGCTCAGAGTAAGCAACTGGATCTGTCCAAAGCAGGCGACCTCATCATTAGGGAGGGAGAAGTCTGAGACCTTGAGA AAAAGAGGACTGCCCGTGCAGCTGAGGGGCCAGCGAGTTCCAACTTCCTTTTCTGCTGTGCATATGAGTGAGAAGTTTG CCCAGGACGTGCCCTGCTCCAGCACCCCTCCTCATCCTGTTTTAAGGGTAGCCAGAGGAGAGTGGTGCCTGACTGCCCC TGCACTGAATTGTTCTGTAAAGCTGGACACCTTGATGCCAATTGAAGCGGTATCTTCAGGGAGGATGCAGCTCCTTGCT CTCTGGGGTTTGTTTTCACTATGAAAGGGAGGAGTAACAATTTCCCTTCTCTCTTCTCCTGCCTCTTCCTTCTCTTGCA AGGTCGAAACTGTTACCCGACAGTTACAGAATGTGTTTGTGTCTGGAGGACTGACCTAGCCGTGGCCCATCTGGAAGGG TTTGGCACCTCTGGAGACAGCTGAATCGGTTATTTGAGGGGCTCTAGTTGGTTTTAACCTGGCCGTATGCTTGGCCTGA CCCTCAGCTAGTGGAGAGCAAATGTCCATTCTTTGGTACCTCTTTTCAACTTTATCATAAAAGGATTAGAACGTGAAAT TCCTGCTTTTTGCTTTTTAGTGCGGGGACCTGCTTGTTAGCTGTGAGCTGATCCCAGAGCCAGTGATGCTGCCAGTGCT GGCTTCAACCCAGTTATTGGAATGGGGCTGCAGCCCTCTCAGCTGCTTCTGCTGGTTTTTGGTATCTCATATGCTTTGG AGGCGTTAGGTAGGGGTGCAGCTGCAGGAGGAGCAGAGGCAGTAGGTGGGCATAATACAGGGCTTGTGAGCACACAGGC TTGGCAGCTATGCACGGGGCACTGAGCGTGAAGCCTGAATGATTTCAGGATGATTTCTCCCTGTTTCTTTGGGATGGCT CAGTGGGATCAGGTTACTCCTATTATAGGAACAGTGCTGAGCCAGGATTTTAGCTTCTTTTAGTAGGGAAGGATCCTGG CTGCTTTGTTCTGAGCTCTCCCTGCAGAGATCCTGTAACATTTGTCTTACCCTCCTGAATTGCTTTCATCTTAATCATC TGCCTTTTCCCTTCAGTGCTAGAGATGCAGTCAGTGCAGACAGCAACCGATGGCTGTCAGAACCTGGGTTGAAAAAAAG TTCGTTTTTATTCACTTTTTTTACATAAAAAAAAAAAGAATAAAAGCCCTATTTTTGAATGGGAAAAAAAAAAAAAAAA
Citation	Gammill LS, Bronner-Fraser M. Genomic analysis of neural crest induction. Development. 2002 Dec;129(24):5731-41.
Copyright	Published by The Company of Biologists 2002. This material is protected by a copyright retained by the authors. Permission granted by Dr. Bronner-Fraser.
Comments	Dyskerin is a component of telomerase that appears to be essential for stem cell renewal in a variety of tissues including the basal layer of the epidermis. As insufficient information is provided in publication to verify exact sequence used to synthesize probe, the sequence below was obtained from NCBI (acc #NM_001031115).