{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O75072","secondaryAccessions":["B4DUX9","J3KP13","Q3MIJ1","Q96TE1","Q9P295"],"uniProtkbId":"FKTN_HUMAN","entryAudit":{"firstPublicDate":"2001-02-21","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2003-02-12","entryVersion":190,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Ribitol-5-phosphate transferase FKTN"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26923585"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29477842"}],"value":"2.7.8.-"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9690476"}],"value":"Fukutin"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9690476"}],"value":"Fukuyama-type congenital muscular dystrophy protein"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26923585"}],"value":"Ribitol-5-phosphate transferase"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:3622"}],"value":"FKTN"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10545611"}],"value":"FCMD"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17034757"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25279699"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26923585"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27194101"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29477842"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"11115853"}],"value":"Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine 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) (PubMed:26923585, PubMed:27194101, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:27194101, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"3-O-[beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + CDP-L-ribitol = 3-O-[Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + CMP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:36551"},{"database":"Rhea","id":"RHEA-COMP:13309"},{"database":"Rhea","id":"RHEA-COMP:17480"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:57608"},{"database":"ChEBI","id":"CHEBI:60377"},{"database":"ChEBI","id":"CHEBI:136710"},{"database":"ChEBI","id":"CHEBI:177331"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26923585"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29477842"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:36552"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26923585"}]}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25279699"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26923585"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27194101"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29477842"}],"value":"Protein modification; protein glycosylation"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17034757"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29477842"}],"value":"Forms a complex composed of FKTN/fukutin, FKRP and RXYLT1/TMEM5 (PubMed:29477842). Interacts (via transmembrane domain) with POMGNT1; the interaction is direct and is required for normal POMGNT1 location in Golgi membranes (PubMed:17034757)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"O75072","intActId":"EBI-21511782"},"interactantTwo":{"uniProtKBAccession":"Q8WZA1","geneName":"POMGNT1","intActId":"EBI-3912424"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O75072","intActId":"EBI-21511782"},"interactantTwo":{"uniProtKBAccession":"Q9Y2B1","geneName":"RXYLT1","intActId":"EBI-3914763"},"numberOfExperiments":5,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R507"}],"value":"In retinal tissue, does not localize with the Golgi apparatus"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25279699"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29477842"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"26923585"}],"value":"Golgi apparatus membrane","id":"SL-0134"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Single-pass type II membrane protein","id":"SL-9906"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R507"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R507"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["O75072-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["O75072-2"],"sequenceIds":["VSP_045961"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11115853"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29416295"}],"value":"Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMed:11115853). Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853)"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4","diseaseAccession":"DI-00364","acronym":"MDDGA4","description":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, 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.","diseaseCrossReference":{"database":"MIM","id":"253800"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10545611"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17034757"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19179078"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22958903"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24530477"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4","diseaseAccession":"DI-02728","acronym":"MDDGB4","description":"An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of intellectual disability.","diseaseCrossReference":{"database":"MIM","id":"613152"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14627679"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18177472"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19179078"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19299310"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Muscular dystrophy-dystroglycanopathy limb-girdle C4","diseaseAccession":"DI-00669","acronym":"MDDGC4","description":"An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids.","diseaseCrossReference":{"database":"MIM","id":"611588"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17044012"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19342235"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Cardiomyopathy, dilated, 1X","diseaseAccession":"DI-00227","acronym":"CMD1X","description":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. 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