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Ask your administrator if you think this is wrong. ======= FKTN ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: FKTN * **<color #00a2e8>Official Name</color>**: fukutin * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2218|2218]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75072|O75072]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FKTN&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FKTN|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607440|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]. * **<color #00a2e8>UniProt Summary</color>**: Glycosyltransferase 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. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development. {ECO:0000269|PubMed:25279699}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |LicD| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |regulation of protein glycosylation| |protein O-linked mannosylation| |protein mannosylation| |negative regulation of JNK cascade| |mannosylation| |regulation of glycoprotein biosynthetic process| |negative regulation of stress-activated protein kinase signaling cascade| |negative regulation of stress-activated MAPK cascade| |regulation of glycoprotein metabolic process| |transferase activity| |integral component of Golgi membrane| |cis-Golgi network| |protein O-linked glycosylation| |negative regulation of MAPK cascade| |regulation of JNK cascade| |regulation of stress-activated MAPK cascade| |regulation of stress-activated protein kinase signaling cascade| |protein glycosylation| |macromolecule glycosylation| |glycosylation| |muscle organ development| |glycoprotein biosynthetic process| |glycoprotein metabolic process| |negative regulation of protein phosphorylation| |negative regulation of phosphorylation| |muscle structure development| |negative regulation of intracellular signal transduction| |negative regulation of phosphate metabolic process| |negative regulation of phosphorus metabolic process| |negative regulation of protein modification process| |carbohydrate derivative biosynthetic process| |negative regulation of cell population proliferation| |regulation of cellular response to stress| |regulation of MAPK cascade| |Golgi apparatus| |endoplasmic reticulum| |carbohydrate derivative metabolic process| |negative regulation of cellular protein metabolic process| |negative regulation of protein metabolic process| |negative regulation of signal transduction| |negative regulation of cell communication| |negative regulation of signaling| |organonitrogen compound biosynthetic process| |regulation of protein phosphorylation| |regulation of response to stress| |regulation of phosphorylation| |extracellular space| |regulation of cell population proliferation| |negative regulation of response to stimulus| |cellular macromolecule biosynthetic process| |macromolecule biosynthetic process| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |regulation of intracellular signal transduction| |regulation of protein modification process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp506|Momordin-Ic 10μM R08 exp506]]|-2.2| |[[:results:exp533|TNF-alpha 44ng/ml R08 exp533]]|-1.95| |[[:results:exp155|UNC1999 2μM R03 exp155]]|1.84| |[[:results:exp98|BI-6727 0.04μM R03 exp98]]|2.02| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 17321 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.62 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='FKTN Expression in NALM6 Cells: 5.62'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1