| Entry |
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| Symbol |
POMGNT1, GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2
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| Name |
(RefSeq) protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 1
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| KO |
| K09666 | beta-1,2-N-acetylglucosaminyltransferase [EC:2.4.1.-] |
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| Organism |
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| Pathway |
| hsa00515 | Mannose type O-glycan biosynthesis |
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| Disease |
| H00120 | Muscular dystrophy-dystroglycanopathy type A |
| H00593 | Limb-girdle muscular dystrophy |
| H01959 | Muscular dystrophy-dystroglycanopathy type C |
| H01960 | Muscular dystrophy-dystroglycanopathy type B |
| H02307 | Muscular dystrophy-dystroglycanopathy |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00515 Mannose type O-glycan biosynthesis
55624 (POMGNT1)
09180 Brite Hierarchies
09181 Protein families: metabolism
01003 Glycosyltransferases [BR:hsa01003]
55624 (POMGNT1)
Glycosyltransferases [BR:hsa01003]
Glycan extension
O-Glycan
55624 (POMGNT1)
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| SSDB |
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| Motif |
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| Other DBs |
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| Structure |
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| Position |
1:complement(46188683..46220305)
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| AA seq |
660 aa
MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVTVIVNIKLILD
TRRAISEANEDPEPEQDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVL
EDEAREQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAMVLFLNMVAPGRVLICTVKDE
GSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGGPVFGEKHSKSPALSSWGDPVLL
KTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCSCKDPTPIEFSPDPLPDNKVL
NVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVALFGLRGIQHTP
ISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLEEDDSLY
CISAWNDQGYEHTAEDPALLYRVETMPGLGWVLRRSLYKEELEPKWPTPEKLWDWDMWMR
MPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEA
YEVEVHRLLSEAEVLDHSKNPCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIW
DLDVRGNHRGLWRLFRKKNHFLMVGVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAPEQT |
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| NT seq |
1983 nt +upstreamnt +downstreamnt
atggacgactggaagcccagccccctcatcaagccctttggggctcggaagaagcggagc
tggtaccttacctggaagtataaactgacaaaccagcgggccctgcggagattctgtcag
acaggggccgtgcttttcctgctggtgactgtcattgtcaatatcaagttgatcctggac
actcggcgagccatcagtgaagccaatgaagacccagagccagagcaagactatgatgag
gccctaggccgcctggagcccccacggcgcagaggcagtggtccccggcgggtcctggac
gtagaggtgtattcaagtcgcagcaaagtatatgtggcagtggatggcaccacggtgctg
gaggatgaggcccgggagcagggccggggcatccatgtcattgtcctcaaccaggccacg
ggccacgtgatggcaaaacgtgtgtttgacacgtactcacctcatgaggatgaggccatg
gtgctattcctcaacatggtagcgcccggccgagtgctcatctgcactgtcaaggatgag
ggctccttccacctcaaggacacagccaaggctctgctgaggagcctgggcagccaggct
ggccctgccctgggctggagggacacatgggccttcgtgggacgaaaaggaggtcctgtc
ttcggggagaaacattctaaatcacctgccctctcttcctggggggacccagtcctgctg
aagacagatgtgccattgagctcagcagaagaggcagagtgccactgggcagacacagag
ctgaaccgtcgccgccggcgcttctgcagcaaagttgagggctatggaagtgtatgcagc
tgcaaggaccccacacccatcgagttcagccctgacccactcccagacaacaaggtcctc
aatgtgcctgtggctgtcattgcagggaaccgacccaattacctgtacaggatgctgcgc
tctctgctttcagcccagggggtgtctcctcagatgataacagttttcattgacggctac
tatgaggaacccatggatgtggtggcactgtttggtctgaggggcatccagcatactccc
atcagcatcaagaatgcccgcgtgtctcagcactacaaggccagcctcactgccactttc
aacctgtttccggaggccaagtttgctgtggttctggaagaggacctggacattgctgtg
gattttttcagtttcctgagccaatccatccacctactggaggaggatgacagcctgtac
tgcatctctgcctggaatgaccaggggtatgaacacacggctgaggacccagcactactg
taccgtgtggagaccatgcctgggctgggctgggtgctcaggaggtccttgtacaaggag
gagcttgagcccaagtggcctacaccggaaaagctctgggattgggacatgtggatgcgg
atgcctgaacaacgccggggccgagagtgcatcatccctgacgtttcccgatcctaccac
tttggcatcgtcggcctcaacatgaatggctactttcacgaggcctacttcaagaagcac
aagttcaacacggttccaggtgtccagctcaggaatgtggacagtctgaagaaagaagct
tatgaagtggaagttcacaggctgctcagtgaggctgaggttctggaccacagcaagaac
ccttgtgaagactctttcctgccagacacagagggccacacctacgtggcctttattcga
atggagaaagatgatgacttcaccacctggacccagcttgccaagtgcctccatatctgg
gacctggatgtgcgtggcaaccatcggggcctgtggagattgtttcggaagaagaaccac
ttcctgatggtgggggtcccggcttccccctactcagtgaagaagccaccctcagtcacc
ccaattttcctggagccacccccaaaggaggagggagccccaggagccccagaacagaca
tga |
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