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Aliases for FKRP Gene

Aliases for FKRP Gene

  • Fukutin Related Protein 2 3
  • LGMD2I 3 6
  • MDDGA5 3 6
  • MDDGB5 3 6
  • MDDGC5 3 6
  • MDC1C 3 6
  • Fukutin-Related Protein 3
  • EC 2.-.-.- 4

External Ids for FKRP Gene

Previous GeneCards Identifiers for FKRP Gene

  • GC19P047893
  • GC19P047640
  • GC19P051925
  • GC19P051941
  • GC19P047249
  • GC19P043674

Summaries for FKRP Gene

Entrez Gene Summary for FKRP Gene

  • This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

GeneCards Summary for FKRP Gene

FKRP (Fukutin Related Protein) is a Protein Coding gene. Diseases associated with FKRP include muscular dystrophy-dystroglycanopathy , type a, 5 and muscular dystrophy-dystroglycanopathy , type b, 5. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot for FKRP Gene

  • Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKRP Gene

Genomics for FKRP Gene

Regulatory Elements for FKRP Gene

Genomic Location for FKRP Gene

Start:
46,746,046 bp from pter
End:
46,776,988 bp from pter
Size:
30,943 bases
Orientation:
Plus strand

Genomic View for FKRP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FKRP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKRP Gene

Proteins for FKRP Gene

  • Protein details for FKRP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9S5-FKRP_HUMAN
    Recommended name:
    Fukutin-related protein
    Protein Accession:
    Q9H9S5
    Secondary Accessions:
    • A8K5G7

    Protein attributes for FKRP Gene

    Size:
    495 amino acids
    Molecular mass:
    54568 Da
    Quaternary structure:
    • May interact with the dystrophin-glycoprotein complex (DGC) (By similarity). Homodimer; disulfide-linked. Exists also as large multimeric protein complexes.

neXtProt entry for FKRP Gene

Proteomics data for FKRP Gene at MOPED

Post-translational modifications for FKRP Gene

No data available for DME Specific Peptides for FKRP Gene

Domains for FKRP Gene

Protein Domains for FKRP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FKRP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H9S5

UniProtKB/Swiss-Prot:

FKRP_HUMAN :
  • Q9H9S5
Family:
  • Belongs to the LicD transferase family.
genes like me logo Genes that share domains with FKRP: view

No data available for Gene Families for FKRP Gene

Function for FKRP Gene

Molecular function for FKRP Gene

UniProtKB/Swiss-Prot Function: Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

Enzyme Numbers (IUBMB) for FKRP Gene

Gene Ontology (GO) - Molecular Function for FKRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with FKRP: view
genes like me logo Genes that share phenotypes with FKRP: view

miRNA for FKRP Gene

miRTarBase miRNAs that target FKRP

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for FKRP Gene

Localization for FKRP Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKRP Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane, sarcolemma. Rough endoplasmic reticulum. Note=According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted. Localization at the cell membrane may require the presence of dystroglycan. At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes. In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FKRP Gene COMPARTMENTS Subcellular localization image for FKRP gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for FKRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005615 extracellular space IDA 19900540
GO:0005791 rough endoplasmic reticulum IDA 15213246
GO:0005794 Golgi apparatus IDA 19900540
GO:0016010 dystrophin-associated glycoprotein complex IEA --
genes like me logo Genes that share ontologies with FKRP: view

Pathways for FKRP Gene

SuperPathways for FKRP Gene

No Data Available

UniProtKB/Swiss-Prot Q9H9S5-FKRP_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for FKRP Gene

Gene Ontology (GO) - Biological Process for FKRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009101 glycoprotein biosynthetic process --
GO:0016485 protein processing IEA --
GO:0035269 protein O-linked mannosylation IMP 25279699
genes like me logo Genes that share ontologies with FKRP: view

No data available for Pathways by source for FKRP Gene

Compounds for FKRP Gene

(1) Novoseek inferred chemical compound relationships for FKRP Gene

Compound -log(P) Hits PubMed IDs
creatinine 19.5 1
genes like me logo Genes that share compounds with FKRP: view

Transcripts for FKRP Gene

Unigene Clusters for FKRP Gene

Fukutin related protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FKRP Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h · 10i · 10j · 10k · 10l · 10m
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - - - -
SP13: - - - - - - - - -
SP14: - - - - - -
SP15: - - - - - - -
SP16: - - - - - - - - - -
SP17: - - - - - - - - - - -

Relevant External Links for FKRP Gene

GeneLoc Exon Structure for
FKRP
ECgene alternative splicing isoforms for
FKRP

Expression for FKRP Gene

mRNA expression in normal human tissues for FKRP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FKRP Gene

SOURCE GeneReport for Unigene cluster for FKRP Gene Hs.515493

mRNA Expression by UniProt/SwissProt for FKRP Gene

Q9H9S5-FKRP_HUMAN
Tissue specificity: Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas
genes like me logo Genes that share expressions with FKRP: view

No data available for mRNA differential expression in normal tissues for FKRP Gene

Orthologs for FKRP Gene

This gene was present in the common ancestor of animals.

Orthologs for FKRP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKRP 35
  • 99.33 (n)
  • 99.19 (a)
FKRP 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FKRP 35
  • 89.2 (n)
  • 93.72 (a)
FKRP 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FKRP 35
  • 91.18 (n)
  • 94.95 (a)
FKRP 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fkrp 35
  • 87.02 (n)
  • 94.12 (a)
Fkrp 16
Fkrp 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FKRP 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fkrp 35
  • 86 (n)
  • 93.51 (a)
lizard
(Anolis carolinensis)
Reptilia FKRP 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fkrp 35
  • 56.5 (n)
  • 55.81 (a)
Str.19699 35
zebrafish
(Danio rerio)
Actinopterygii fkrp 35
  • 59.73 (n)
  • 61.03 (a)
fkrp 36
  • 56 (a)
OneToMany
fkrp 36
  • 55 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008690 35
  • 30 (n)
  • 12.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15651 35
  • 46.76 (n)
  • 27.96 (a)
CG15651 36
  • 22 (a)
OneToOne
Species with no ortholog for FKRP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FKRP Gene

ENSEMBL:
Gene Tree for FKRP (if available)
TreeFam:
Gene Tree for FKRP (if available)

Paralogs for FKRP Gene

No data available for Paralogs for FKRP Gene

Variants for FKRP Gene

Sequence variations from dbSNP and Humsavar for FKRP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1616495 -- 46,751,283(-) agttt(C/G)agatc intron-variant
rs1644333 -- 46,754,939(+) AGCAC(C/G)CCACT intron-variant
rs1693995 -- 46,748,661(+) CATTT(C/T)TAAGG utr-variant-5-prime
rs2287717 other 46,755,585(+) GCTGC(C/T)GGCCC reference, synonymous-codon
rs2935822 -- 46,750,767(-) aggat(C/T)gcttg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FKRP Gene

Variant ID Type Subtype PubMed ID
dgv3961n71 CNV Loss 21882294
nsv833850 CNV Loss 17160897
esv1341540 CNV Insertion 17803354

Relevant External Links for FKRP Gene

HapMap Linkage Disequilibrium report
FKRP
Human Gene Mutation Database (HGMD)
FKRP
Locus Specific Mutation Databases (LSDB)
FKRP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKRP Gene

Disorders for FKRP Gene

(3) OMIM Diseases for FKRP Gene (606596)

UniProtKB/Swiss-Prot

FKRP_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:15121789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements. {ECO:0000269 PubMed:11592034, ECO:0000269 PubMed:12654965, ECO:0000269 PubMed:12666124, ECO:0000269 PubMed:14652796, ECO:0000269 PubMed:17336067}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. {ECO:0000269 PubMed:11741828, ECO:0000269 PubMed:12666124, ECO:0000269 PubMed:14523375, ECO:0000269 PubMed:14647208, ECO:0000269 PubMed:23800702}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for FKRP Gene

(25) Novoseek inferred disease relationships for FKRP Gene

Disease -log(P) Hits PubMed IDs
lgmd2i 99.4 51
mdc1c 98.9 23
walker-warburg syndrome 95.6 6
muscle-eye-brain disease 94.3 4
muscular dystrophy limb-girdle 93.5 15

Relevant External Links for FKRP

Genetic Association Database (GAD)
FKRP
Human Genome Epidemiology (HuGE) Navigator
FKRP
genes like me logo Genes that share disorders with FKRP: view

Publications for FKRP Gene

  1. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. (PMID: 11592034) Brockington M. … Muntoni F. (Am. J. Hum. Genet. 2001) 2 3 4 23
  2. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (PMID: 11741828) Brockington M. … Muntoni F. (Hum. Mol. Genet. 2001) 2 3 4 23
  3. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. (PMID: 14652796) Louhichi N. … Fakhfakh F. (Neurogenetics 2004) 3 4 23 48
  4. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (PMID: 15121789) Beltran-Valero de Bernabe D. … Muntoni F. (J. Med. Genet. 2004) 3 4 23
  5. Subcellular localization of fukutin and fukutin-related protein in muscle cells. (PMID: 15213246) Matsumoto H. … Nishino I. (J. Biochem. 2004) 3 4 23

Products for FKRP Gene

Sources for FKRP Gene

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