FKTN
entrez
2218
canonical
uniprot
O75072
canonical
ensembl
ENSG00000106692
resolver
ensp
ENSP00000223528
resolver
ensp
ENSP00000350687
resolver
ensp
ENSP00000399140
resolver
ensp
ENSP00000495864
resolver
ensp
ENSP00000502113
resolver
ensp
ENSP00000502153
resolver
ensp
ENSP00000576392
resolver
ensp
ENSP00000576394
resolver
ensp
ENSP00000592196
resolver
ensp
ENSP00000592198
resolver
ensp
ENSP00000592199
resolver
ensp
ENSP00000592201
resolver
ensp
ENSP00000637574
resolver
ensp
ENSP00000722711
resolver
ensp
ENSP00000763964
resolver
ensp
ENSP00000780548
resolver
ensp
ENSP00000780549
resolver
ensp
ENSP00000789294
resolver
enst
ENST00000642177
resolver
enst
ENST00000674563
resolver
genesymbol
FKTN
resolver
genesymbol_syn
FCMD
resolver
hgnc
HGNC:3622
resolver
uniprot
A0A2R8Y768
resolver
uniprot
B4DUX9
resolver
uniprot
B4E2W4
resolver
uniprot
J3KP13
resolver
uniprot
Q3MIJ1
resolver
uniprot
Q96TE1
resolver
uniprot
Q9P295
resolver
uniprot_entry
A0A2R8Y768_HUMAN
resolver
uniprot_entry
B4E2W4_HUMAN
resolver
uniprot_entry
FKTN_HUMAN
resolver
uniprot_sec
B4DUX9
resolver
uniprot_sec
J3KP13
resolver
uniprot_sec
Q3MIJ1
resolver
uniprot_sec
Q96TE1
resolver
uniprot_sec
Q9P295
resolver
amino_acid_sequence
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]: 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. {ECO:0000269|PubMed:10545611, ECO:0000269|PubMed:17034757, ECO:0000269|PubMed:19179078, ECO:0000269|PubMed:22958903, ECO:0000269|PubMed:24530477}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4 (MDDGB4) [MIM:613152]: 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. {ECO:0000269|PubMed:14627679, ECO:0000269|PubMed:18177472, ECO:0000269|PubMed:19179078, ECO:0000269|PubMed:19299310}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]: 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. {ECO:0000269|PubMed:17044012, ECO:0000269|PubMed:19342235}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1X (CMD1X) [MIM:611615]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:17036286}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.8.-
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:17034757, ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:27194101, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:11115853}.
uniprot
proteins
mass_dalton
53724
uniprot
proteins
mutagenesis
MUTAGEN 133; /note="M->T: Decrease in ribitol-5-phosphate transferase activity."; /evidence="ECO:0000269|PubMed:26923585"; MUTAGEN 317; /note="D->A: Decrease in ribitol-5-phosphate transferase activity."; /evidence="ECO:0000269|PubMed:26923585
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:27194101, ECO:0000269|PubMed:29477842}.
uniprot
proteins
protein_family
LicD transferase family
uniprot
proteins
pubmed
10545611
uniprot
proteins
pubmed
10817652
uniprot
proteins
pubmed
11115853
uniprot
proteins
pubmed
11165248
uniprot
proteins
pubmed
11445638
uniprot
proteins
pubmed
12601708
uniprot
proteins
pubmed
14627679
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17034757
uniprot
proteins
pubmed
17036286
uniprot
proteins
pubmed
17044012
uniprot
proteins
pubmed
18177472
uniprot
proteins
pubmed
19179078
uniprot
proteins
pubmed
19299310
uniprot
proteins
pubmed
19342235
uniprot
proteins
pubmed
22958903
uniprot
proteins
pubmed
24530477
uniprot
proteins
pubmed
25279699
uniprot
proteins
pubmed
26923585
uniprot
proteins
pubmed
27194101
uniprot
proteins
pubmed
29416295
uniprot
proteins
pubmed
29477842
uniprot
proteins
pubmed
9690476
uniprot
proteins
sequence_length
461
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:26923585}; Single-pass type II membrane protein {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:Q8R507}. Nucleus {ECO:0000250|UniProtKB:Q8R507}. Note=In retinal tissue, does not localize with the Golgi apparatus. {ECO:0000250|UniProtKB:Q8R507}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins