Mammalian protein found in Homo sapiens
FKRP |
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Identifiers |
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Aliases | FKRP, LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5, fukutin related protein, LGMDR9, FKTR |
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External IDs | OMIM: 606596; MGI: 2447586; HomoloGene: 11513; GeneCards: FKRP; OMA:FKRP - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 19 (human)[1] |
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| Band | 19q13.32 | Start | 46,746,046 bp[1] |
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End | 46,776,988 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 7 (mouse)[2] |
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| Band | 7|7 A2 | Start | 16,543,171 bp[2] |
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End | 16,550,657 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - myocardium of left ventricle
- cardiac muscle tissue of right atrium
- muscle of thigh
- sural nerve
- apex of heart
- gastrocnemius muscle
- left uterine tube
- anterior pituitary
- right coronary artery
- stromal cell of endometrium
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| Top expressed in | - knee joint
- medial head of gastrocnemius muscle
- triceps brachii muscle
- vastus lateralis muscle
- skeletal muscle tissue
- muscle of thigh
- temporal muscle
- sternocleidomastoid muscle
- digastric muscle
- otolith organ
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - transferase activity
- dystroglycan binding
| Cellular component | - extracellular region
- Golgi apparatus
- dystrophin-associated glycoprotein complex
- Golgi membrane
- sarcolemma
- plasma membrane
- membrane
- rough endoplasmic reticulum
- integral component of membrane
- endoplasmic reticulum
- extracellular space
- nucleus
- cytosol
- cytoplasm
| Biological process | - protein processing
- protein O-linked mannosylation
- protein glycosylation
- glycoprotein biosynthetic process
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 19: 46.75 – 46.78 Mb | Chr 7: 16.54 – 16.55 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Fukutin-related protein (FKRP) is also known as FKRP_HUMAN, LGMD2I, MDC1C, MDDGA5, MDDGB5, and MDDGC5. FKRP can be located in the brain, cardiac muscle and skeletal muscle, and in cells it is found in the Golgi apparatus.[5] Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons.[6]
The genomic location of the FKRP gene is on chromosome 19. FKRP is a ribitol-5-phosphate (enzyme) glycosyltranferase, which means this enzyme helps create glycosidic linkages to an acceptor. In glycosylation of α-dystroglycan (sugar chain) it adds a ribitol-5-phosphate onto the M3 core O-mannosylation of α-dystroglycan to create O-linked mannosylation.[7] Without this linkage α-dystroglycan will not function properly, this can cause issues with the cytoskeleton, and extracellular matrix. In skeletal muscles the α-dystroglycan helps stabilize and protect muscle fibers, in the brain it directs movement of nerve cells.[8] This could be caused by mutations that binds ribitol-5-phosphate to the α-dystroglycan incorrectly. These mutations have been found to be associated with congenital muscular dystrophy, dystroglycanopathies, and Walker-Warburg syndrome.[9] The severity of these diseases are correlated to the amount of mutations occurring. Possible therapy options for FKRP mutations include small molecules, gene delivery, and cell therapy.
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000181027 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048920 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "FKRP gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-05-05.
- ^ Haro C, Uribe ML, Quereda C, Cruces J, Martín-Nieto J (2018). "Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes". Molecular Vision. 24: 43–58. PMC 5783743. PMID 29416295.
- ^ Ortiz-Cordero C, Azzag K, Perlingeiro RC (March 2021). "Fukutin-Related Protein: From Pathology to Treatments". Trends in Cell Biology. 31 (3): 197–210. doi:10.1016/j.tcb.2020.11.003. PMC 8657196. PMID 33272829.
- ^ "FKRP gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-05-05.
- ^ Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli F, et al. (February 2006). "Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations". Archives of Neurology. 63 (2): 251–257. doi:10.1001/archneur.63.2.251. PMID 16476814.
External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
- LOVD mutation database: FKRP
Smooth muscle | |
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Striated muscle | Skeletal muscle | |
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Cardiac muscle | |
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Both | |
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Other/ ungrouped | |
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