Fkrp fukutin related protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fkrpprovided by MGI
Official Full Name: fukutin related proteinprovided by MGI
Primary source: MGI:MGI:2447586
See related: Ensembl:ENSMUSG00000048920 AllianceGenome:MGI:2447586
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MDC1C; LGMD1I; A830029B19Rik
Summary: Enables dystroglycan binding activity; laminin binding activity; and phosphotransferase activity, for other substituted phosphate groups. Acts upstream of or within several processes, including monocarboxylic acid metabolic process; nervous system development; and skeletal muscle organ development. Located in Golgi membrane; extracellular space; and sarcolemma. Is active in Golgi apparatus and skeletal muscle myofibril. Is expressed in brain. Used to study autosomal recessive limb-girdle muscular dystrophy type 2I; muscular dystrophy; muscular dystrophy-dystroglycanopathy type B1; and muscular dystrophy-dystroglycanopathy type B5. 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, Nov 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 24.5), adrenal adult (RPKM 20.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A2; 7 9.15 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (16543192..16550657, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (16809267..16816732, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Title: Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Phenotypic Spectrum of alpha-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
Title: Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
This study demonstrated that the Expression of glycosylated alpha-dystroglycan in newborn skeletal and cardiac muscles with FKRP mutation mice.
Title: Expression of glycosylated α-dystroglycan in newborn skeletal and cardiac muscles of fukutin related protein (FKRP) mutant mice.
Reduced Fkrp levels in skeletal muscle are associated with a progressive muscular dystrophy
Title: The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
FKRP mutations are associated with muscular dystrophy.
Title: Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
a reduction in Fkrp influences the ability of tissue-specific forms of alpha-dystroglycan to direct the deposition of several laminin isoforms
Title: Fukutin-related protein alters the deposition of laminin in the eye and brain.
investigation of the functional roles of FKRP in muscular dystrophies; FKRP is essential for the functional glycosylation of alpha-dystroglycan;both the mutation itself and the levels of FKRP expression are equally critical for the survival of the animals
Title: Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
results suggest the generation of a mouse model for FKRP related muscular dystrophy requires a knock-down rather than a knock-in strategy in order to give rise to a disease phenotype.
Title: Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
data offer the first evidence of a fukutin-related protein (FKRP) complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin-glycoprotein complex
Title: Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex.
Basement membrane (BM) fragility may underlie abnormal phenotypes in fukutin-null embryos, and maintenance of BM function may require fukutin-mediated glycosylation of alpha-dystroglycan early in embryonic development.
Title: Basement membrane fragility underlies embryonic lethality in fukutin-null mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI847300 (e-PCR)
- UniSTS:179525

NoName (e-PCR)
- UniSTS:235607

09.MMHAP70FLC3.seq (e-PCR)
- UniSTS:122992

AI842067 (e-PCR)
- UniSTS:165510

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables dystroglycan binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables laminin binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphotransferase activity, for other substituted phosphate groups	IDA Inferred from Direct Assay more info	PubMed
enables phosphotransferase activity, for other substituted phosphate groups	ISO Inferred from Sequence Orthology more info
enables phosphotransferase activity, for other substituted phosphate groups	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within connective tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within connective tissue replacement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within creatine metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within diaphragm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within filtration diaphragm assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycolytic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within glycoprotein biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within localization of cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of protein localization in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle structure development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuromuscular process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oxygen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pentitol metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within pentose metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction	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 protein O-linked mannosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked mannosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked mannosylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein glycosylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein glycosylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein import	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein modification process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein processing	IDA Inferred from Direct Assay more info	PubMed
involved_in protein tetramerization	IEA Inferred from Electronic Annotation more info
involved_in protein tetramerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within reelin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within reproductive process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to alcohol	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to glucocorticoid	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striated muscle cell differentiation	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
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in rough endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in rough endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
is_active_in skeletal muscle myofibril	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ribitol 5-phosphate transferase FKRP

Names: ribitol-5-phosphate transferase

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_001358846.1 → NP_001345775.1 ribitol 5-phosphate transferase FKRP

Status: VALIDATED

Source sequence(s)

AK135089, BC053072

Consensus CDS

CCDS20853.1

UniProtKB/Swiss-Prot

Q8BJR3, Q8CG64

UniProtKB/TrEMBL

Q3TM90

Conserved Domains (1) summary

cl01378
Location:334 → 371

LicD; LicD family
NM_173430.2 → NP_775606.1 ribitol 5-phosphate transferase FKRP

See identical proteins and their annotated locations for NP_775606.1

Status: VALIDATED

Source sequence(s)

AJ511806, BY014040

Consensus CDS

CCDS20853.1

UniProtKB/Swiss-Prot

Q8BJR3, Q8CG64

UniProtKB/TrEMBL

Q3TM90

Related

ENSMUSP00000059091.8, ENSMUST00000061390.9

Conserved Domains (1) summary

cl01378
Location:334 → 371

LicD; LicD family