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Search results 101 to 156 out of 156 for Dkc1

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Type

Details

Score

Publication

34321999 | J:313619

First Author:	Bedogni F
Year:	2021
Journal:	Front Mol Neurosci
Title:	Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume:	14

Pages:	686034

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Protein

Q9ESX5

Organism:	Mus musculus/domesticus
Length:	509
Fragment?:	false

•

Publication

- | J:155856

First Author:	The Gene Ontology Consortium
Year:	2014

Title:	Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs

•

Publication

- | J:85000

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2003

Title:	MGI Sequence Curation Reference

•

Publication

- | J:23000

First Author:	MGD Nomenclature Committee
Year:	1995

Title:	Nomenclature Committee Use

•

Publication

14610273 | J:86696

First Author:	Zambrowicz BP
Year:	2003
Journal:	Proc Natl Acad Sci U S A
Title:	Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume:	100
Issue:	24
Pages:	14109-14

•

Publication

- | J:293217

First Author:	GemPharmatech
Year:	2020

Title:	GemPharmatech Website.

•

Publication

- | J:141210

First Author:	Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year:	2008
Journal:	Database Download
Title:	Mouse Gene Trap Data Load from dbGSS

•

Publication

- | J:342587

First Author:	AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year:	2011

Title:	Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

•

Publication

- | J:342605

First Author:	GOA curators
Year:	2016

Title:	Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

•

Publication

- | J:164563

First Author:	The Gene Ontology Consortium
Year:	2010

Title:	Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs

•

Publication

21267068 | J:153498

First Author:	Diez-Roux G
Year:	2011
Journal:	PLoS Biol
Title:	A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume:	9
Issue:	1
Pages:	e1000582

•

Publication

- | J:75000

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2002

Title:	Mouse Genome Informatics Computational Sequence to Gene Associations

•

Publication

- | J:57747

First Author:	MGI Genome Annotation Group and UniGene Staff
Year:	2015
Journal:	Database Download
Title:	MGI-UniGene Interconnection Effort

•

Publication

- | J:161428

First Author:	Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year:	2010

Title:	Annotation inferences using phylogenetic trees

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Publication

- | J:63103

First Author:	Mouse Genome Database and National Center for Biotechnology Information
Year:	2000
Journal:	Database Release
Title:	Entrez Gene Load

•

Publication

- | J:262123

First Author:	Allen Institute for Brain Science
Year:	2004
Journal:	Allen Institute
Title:	Allen Brain Atlas: mouse riboprobes

•

Publication

- | J:144086

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2009
Journal:	Database Download
Title:	Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform

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Publication

- | J:155721

First Author:	Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year:	2010
Journal:	Database Download
Title:	Consensus CDS project

•

Publication

- | J:85324

First Author:	Mouse Genome Informatics Group
Year:	2003
Journal:	Database Procedure
Title:	Automatic Encodes (AutoE) Reference

•

Publication

- | J:53168

First Author:	Bairoch A
Year:	1999
Journal:	Database Release
Title:	SWISS-PROT Annotated protein sequence database

•

Publication

- | J:91388

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2005

Title:	Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations

•

Publication

- | J:155221

First Author:	Mouse Genome Informatics
Year:	2010
Journal:	Database Release
Title:	Protein Ontology Association Load.

•

Publication

- | J:90438

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2005

Title:	Obtaining and loading genome assembly coordinates from NCBI annotations

•

Publication

- | J:144087

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2009
Journal:	Database Download
Title:	Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform

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UniProt Feature

Begin:	2
Description:	H/ACA ribonucleoprotein complex subunit DKC1
Type:	chain
End:	509

•

Protein

F6S1S5

Organism:	Mus musculus/domesticus
Length:	74
Fragment?:	true

•

Protein

B7ZCL7

Organism:	Mus musculus/domesticus
Length:	260
Fragment?:	true

•

Protein

A2AN81

Organism:	Mus musculus/domesticus
Length:	145
Fragment?:	true

•

Protein

F6YUI5

Organism:	Mus musculus/domesticus
Length:	184
Fragment?:	true

•

Publication

18802941 | -

First Author:	Kurnikova M
Year:	2009
Journal:	Pediatr Blood Cancer
Title:	Identification of a novel mutation in DKC1 in dyskeratosis congenita.
Volume:	52
Issue:	1
Pages:	135-7

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Publication

10364516 | -

First Author:	Knight SW
Year:	1999
Journal:	Am J Hum Genet
Title:	X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Volume:	65
Issue:	1
Pages:	50-8

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Publication

12437656 | -

First Author:	Cossu F
Year:	2002
Journal:	Br J Haematol
Title:	A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
Volume:	119
Issue:	3
Pages:	765-8

•

Publication

15304085 | -

First Author:	Ding YG
Year:	2004
Journal:	J Invest Dermatol
Title:	Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.
Volume:	123
Issue:	3
Pages:	470-3

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DO Term

DOID:0070025 | X-linked dyskeratosis congenita

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Allele

Dkc1<em1Smoc> | MGI:7289343

Name:	dyskeratosis congenita 1, dyskerin; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type:	Endonuclease-mediated
Attribute String:	Conditional ready, No functional change

•

Publication

8336724 | -

First Author:	Jiang W
Year:	1993
Journal:	Mol Cell Biol
Title:	An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules.
Volume:	13
Issue:	8
Pages:	4884-93

•

Publication

10523634 | -

First Author:	Zebarjadian Y
Year:	1999
Journal:	Mol Cell Biol
Title:	Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA.
Volume:	19
Issue:	11
Pages:	7461-72

•

Publication

9848653 | -

First Author:	Watkins NJ
Year:	1998
Journal:	RNA
Title:	Cbf5p, a potential pseudouridine synthase, and Nhp2p, a putative RNA-binding protein, are present together with Gar1p in all H BOX/ACA-motif snoRNPs and constitute a common bipartite structure.
Volume:	4
Issue:	12
Pages:	1549-68

•

Publication

16601202 | -

First Author:	Hoareau-Aveilla C
Year:	2006
Journal:	RNA
Title:	hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase.
Volume:	12
Issue:	5
Pages:	832-40

•

Publication

17417794 | -

First Author:	Hamidah A
Year:	2008
Journal:	Pediatr Blood Cancer
Title:	X-linked dyskeratosis congenita in Malaysia.
Volume:	50
Issue:	2
Pages:	432

•

Publication

10591218 | -

First Author:	Mitchell JR
Year:	1999
Journal:	Nature
Title:	A telomerase component is defective in the human disease dyskeratosis congenita.
Volume:	402
Issue:	6761
Pages:	551-5

•

Publication

21820037 | -

First Author:	Angrisani A
Year:	2011
Journal:	Biochim Biophys Acta
Title:	A new human dyskerin isoform with cytoplasmic localization.
Volume:	1810
Issue:	12
Pages:	1361-8

•

Protein Domain

IPR004802 | tRNA_PsdUridine_synth_B_fam

Type:

Family

Description:

This family, found in archaea and eukaryotes, includes the only archaeal proteins markedly similar to bacterial TruB, the tRNA pseudouridine 55 synthase. However, among two related yeast proteins, the archaeal set matches yeast YLR175w far better than YNL292w. The first, termed centromere/microtubule binding protein 5 (CBF5), is an apparent rRNA pseudouridine synthase, while the second is the exclusive tRNA pseudouridine 55 synthase for both cytosolic and mitochondrial compartments. It is unclear whether archaeal proteins found by this entry modify tRNA, rRNA, or both. Yeast CBF5 plays a central role in ribosomal RNA processing. It is a probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Its pseudouridine ('psi') residues may serve to stabilise the conformation of rRNAs. It may function as a pseudouridine synthase. It is also a centromeric DNA-CBF3-binding factor which is involved in mitotic chromosome segregation [, , , ]. Human CBF5 homologue, DKC1 (also called Dyskerin), has been involved in a variety of disparate cellular functions. DKC1 isoform 1 is required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme []. In Hela cells, overexpression of DKC1 isoform 3 promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression []. Mutations in the human DKC1 gene cause the X-linked form of DC, a bone marrow failure syndrome characterised by mucosal leukoplakia, nail dystrophy, abnormal skin pigmentation, premature aging, stem cell dysfunction and increased susceptibility to cancer. DKC1 loss of function also causes the Hoyeraal-Hreidarsson syndrome, recognised as a severe X-DC allelic variant [, , , , , ].

•

Publication

9472021 | -

First Author:	Lafontaine DL
Year:	1998
Journal:	Genes Dev
Title:	The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase.
Volume:	12
Issue:	4
Pages:	527-37

•

Publication

31412240 | J:288368

First Author:	Kroustallaki P
Year:	2019
Journal:	Cell Rep
Title:	SMUG1 Promotes Telomere Maintenance through Telomerase RNA Processing.
Volume:	28
Issue:	7
Pages:	1690-1702.e10

•

Publication

31273937 | J:285666

First Author:	Benyelles M
Year:	2019
Journal:	EMBO Mol Med
Title:	Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models.
Volume:	11
Issue:	7
Pages:	e10201

•

Protein

Q3TM67

Organism:	Mus musculus/domesticus
Length:	509
Fragment?:	false

•

Protein

Q3TI79

Organism:	Mus musculus/domesticus
Length:	509
Fragment?:	false

•

Publication

18630941 | -

First Author:	Zhou H
Year:	2008
Journal:	J Proteome Res
Title:	Specific phosphopeptide enrichment with immobilized titanium ion affinity chromatography adsorbent for phosphoproteome analysis.
Volume:	7
Issue:	9
Pages:	3957-67

•

Publication

19131326 | -

First Author:	Sweet SM
Year:	2009
Journal:	Mol Cell Proteomics
Title:	Large scale localization of protein phosphorylation by use of electron capture dissociation mass spectrometry.
Volume:	8
Issue:	5
Pages:	904-12

•

Publication

16452087 | J:263376

First Author:	Trinidad JC
Year:	2006
Journal:	Mol Cell Proteomics
Title:	Comprehensive identification of phosphorylation sites in postsynaptic density preparations.
Volume:	5
Issue:	5
Pages:	914-22

•

Publication

19144319 | J:143718

First Author:	Trost M
Year:	2009
Journal:	Immunity
Title:	The phagosomal proteome in interferon-gamma-activated macrophages.
Volume:	30
Issue:	1
Pages:	143-54

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Publication

17242355 | -

First Author:	Villén J
Year:	2007
Journal:	Proc Natl Acad Sci U S A
Title:	Large-scale phosphorylation analysis of mouse liver.
Volume:	104
Issue:	5
Pages:	1488-93

•

Publication

21183079 | J:292518

First Author:	Huttlin EL
Year:	2010
Journal:	Cell
Title:	A tissue-specific atlas of mouse protein phosphorylation and expression.
Volume:	143
Issue:	7
Pages:	1174-89

•

Publication

19468303 | -

First Author:	Church DM
Year:	2009
Journal:	PLoS Biol
Title:	Lineage-specific biology revealed by a finished genome assembly of the mouse.
Volume:	7
Issue:	5
Pages:	e1000112

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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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