fkrp fukutin related protein [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: fkrpprovided by ZNC
Official Full Name: fukutin related proteinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-070412-4
See related: Ensembl:ENSDARG00000100467 AllianceGenome:ZFIN:ZDB-GENE-070412-4
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:162829
Summary: Acts upstream of or within several processes, including muscle attachment; skeletal myofibril assembly; and vasculogenesis. Predicted to be located in membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including cloacal chamber; immature eye; nervous system; neural keel; and otic vesicle. Used to study muscular dystrophy and muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Orthologous to human FKRP (fukutin related protein). [provided by Alliance of Genome Resources, Oct 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 15

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	15	NC_007126.7 (11678611..11683534, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	15	NC_007126.6 (11794536..11799454, complement)

Chromosome 15 - NC_007126.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages 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?

FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Title: FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Fkrp plays an early and essential role in muscle, myotendinous junction, and neuromuscular junction development. The data also indicate that, at least in the zebrafish model, FKRP-associated dystroglycanopathy does not exactly phenocopy dystroglycan deficiency.
Title: NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy.
Fukutin and FKRP have functions that affect ocular development in zebrafish independently of dystroglycan.
Title: Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
Muscle pathology in embryos lacking Fukutin or FKRP is different from loss of dystroglycan; knockdown of Fukutin or FKRP leads to a notochord defect and a perturbation of laminin expression before muscle degeneration.
Title: Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.
Zebrafish are a useful animal model to reveal the mechanism of muscular dystrophiescaused by mutations in FKRP gene.
Title: Zebrafish models for human FKRP muscular dystrophies.
It was found that downregulating FKRP in the zebrafish results in embryos which develop a range of abnormalities reminiscent of the developmental defects observed in human muscular dystrophies associated with mutations in FKRP
Title: Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle attachment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked mannosylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of protein glycosylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striated muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ribitol 5-phosphate transferase FKRP

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.