|  Help  |  About  |  Contact Us

Search our database by keyword

Examples

  • Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
  • Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
  • Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 101 to 128 out of 128 for Fkrp

<< First    < Previous  |  Next >    Last >>
0.021s

Categories

Hits by Category

Hits by Strain

Type Details Score
Protein
Q8CG64
Organism: Mus musculus/domesticus
Length: 494  
Fragment?: false
•
•
•
•
•
Publication
27194101 | J:239923
 
First Author: Gerin I
Year: 2016
Journal: Nat Commun
Title: ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
Volume: 7
Pages: 11534
•
•
•
•
•
Publication
17554798 | -
First Author: Keramaris-Vrantsis E
Year: 2007
Journal: Muscle Nerve
Title: Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Volume: 36
Issue: 4
Pages: 455-65
•
•
•
•
•
Protein
A0A0U1RNU1
Organism: Mus musculus/domesticus
Length: 108  
Fragment?: true
•
•
•
•
•
Publication
29416295 | -
 
First Author: Haro C
Year: 2018
Journal: Mol Vis
Title: Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.
Volume: 24
Pages: 43-58
•
•
•
•
•
Publication
29477842 | -
First Author: Nishihara R
Year: 2018
Journal: Biochem Biophys Res Commun
Title: Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.
Volume: 497
Issue: 4
Pages: 1025-1030
•
•
•
•
•
DO Term
DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I
•
•
•
•
•
DO Term
DOID:0111241 | congenital muscular dystrophy-dystroglycanopathy type A5
•
•
•
•
•
DO Term
DOID:0110635 | muscular dystrophy-dystroglycanopathy type B5
•
•
•
•
•
Allele
Fkrp<tm1Itl> | MGI:4834518
Name: fukutin related protein; targeted mutation 1, inGenious Targeting Laboratory
Allele Type: Targeted
Attribute String: Humanized sequence
•
•
•
•
•
Genotype
Genotype
Symbol: Fkrp/Fkrp
Background: involves: 129S6/SvEvTac * C57BL/6N
Zygosity: hm
Has Mutant Allele: true
•
•
•
•
•
Protein
Q8K4R2
Organism: Mus musculus/domesticus
Length: 54  
Fragment?: false
•
•
•
•
•
Publication
17034757 | J:114512
First Author: Xiong H
Year: 2006
Journal: Biochem Biophys Res Commun
Title: Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
Volume: 350
Issue: 4
Pages: 935-41
•
•
•
•
•
Protein Domain
IPR045587 | FKTN_N
Type: Domain
Description: This is the N-terminal domain of Ribitol-5-phosphate transferase FKTN (also referred to fukutin) which contains the transmembrane domain required for its localisation to the Golgi and participates in the interaction with POMGnT1 (Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1) for normal POMGnT1 location and activity []. FKTN is a ribitol-phosphate transferase that forms a complex with FKRP (fukutin-related protein, also a ribitol-phosphate transferase) and TMEM5 (a ribitol xylosyltransferase). Fukutin, FKRP, and TMEM5 maintain each of their enzyme activities in the complex and may contribute to specificbiosynthesis of glycans required for dystroglycan function [].
•
•
•
•
•
Publication
22922256 | J:187144
First Author: Beedle AM
Year: 2012
Journal: J Clin Invest
Title: Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.
Volume: 122
Issue: 9
Pages: 3330-42
•
•
•
•
•
Protein
Q3TM90
Organism: Mus musculus/domesticus
Length: 494  
Fragment?: false
•
•
•
•
•
Protein
Q3THE8
Organism: Mus musculus/domesticus
Length: 494  
Fragment?: false
•
•
•
•
•
Publication
10200966 | -
First Author: Zhang JR
Year: 1999
Journal: Mol Microbiol
Title: Pneumococcal licD2 gene is involved in phosphorylcholine metabolism.
Volume: 31
Issue: 5
Pages: 1477-88
•
•
•
•
•
Publication
31949166 | -
First Author: Kuwabara N
Year: 2020
Journal: Nat Commun
Title: Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.
Volume: 11
Issue: 1
Pages: 303
•
•
•
•
•
Protein Domain
IPR007074 | LicD_fam
Type: Family
Description: The LicD family of proteins show high sequence similarity and are involved in phosphorylcholine metabolism. There is evidence to show that LicD2 mutants have a reduced ability to take up choline, have decreased ability to adhere to host cells and are less virulent []. These proteins are part of the nucleotidyltransferase superfamily [].Ribitol-5-phosphate transferase FKTN (also known as Fukutin), which is a member of the LicD family, is a mammal protein which may be involved in the modification of glycan moieties of alpha-dystroglycan; defects in Fukutin are associated with congential muscular dystrophy [, ]. Ribitol 5-phosphate transferase FKRP (also known as Fukutin-related protein), responsible for the the second step in the formation of the ribose 5-phosphate tandem repeat after FKTN activity [, ], has N-terminal stem and C-terminal catalytic domains, and adopts a tetramer assembly [].
•
•
•
•
•
Protein
Q8R507
Organism: Mus musculus/domesticus
Length: 461  
Fragment?: false
•
•
•
•
•
Protein
A0A1Y7VM91
Organism: Mus musculus/domesticus
Length: 500  
Fragment?: false
•
•
•
•
•
Protein
Q3UMQ5
Organism: Mus musculus/domesticus
Length: 385  
Fragment?: false
•
•
•
•
•
Publication
11445638 | -
First Author: Hayashi YK
Year: 2001
Journal: Neurology
Title: Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
Volume: 57
Issue: 1
Pages: 115-21
•
•
•
•
•
Publication
28666318 | J:249467
First Author: Frattini P
Year: 2017
Journal: Hum Mol Genet
Title: Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I.
Volume: 26
Issue: 19
Pages: 3682-3698
•
•
•
•
•
Publication
19833706 | -
First Author: Kuchta K
Year: 2009
Journal: Nucleic Acids Res
Title: Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human.
Volume: 37
Issue: 22
Pages: 7701-14
•
•
•
•
•
Publication
15489334 | -
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7
•
•
•
•
•
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
•
•
•
•
•




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.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom