KEGG   Homo sapiens (human): 55624Help
Entry
55624             CDS       T01001                                 

Gene name
POMGNT1, GNTI.2, GnT_I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2
Definition
(RefSeq) protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
  KO
K09666  beta-1,2-N-acetylglucosaminyltransferase [EC:2.4.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00515  Mannose type O-glycan biosynthesis
hsa01100  Metabolic pathways
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H00593  Limb-girdle muscular dystrophy
H01959  Muscular dystrophy-dystroglycanopathy type C
H01960  Muscular dystrophy-dystroglycanopathy type B
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)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.-  
     55624 (POMGNT1)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  O-Glycan
   55624 (POMGNT1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: GNT-I ILEI
Motif
Other DBs
NCBI-GeneID: 55624
NCBI-ProteinID: NP_060209
OMIM: 606822
HGNC: 19139
Ensembl: ENSG00000085998
Vega: OTTHUMG00000007604
Pharos: Q8WZA1(Tbio)
UniProt: Q8WZA1
Structure
PDB: 

Position
1p34.1
AA seq 660 aa AA seqDB search
MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVTVIVNIKLILD
TRRAISEANEDPEPEQDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVL
EDEAREQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAMVLFLNMVAPGRVLICTVKDE
GSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGGPVFGEKHSKSPALSSWGDPVLL
KTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCSCKDPTPIEFSPDPLPDNKVL
NVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVALFGLRGIQHTP
ISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLEEDDSLY
CISAWNDQGYEHTAEDPALLYRVETMPGLGWVLRRSLYKEELEPKWPTPEKLWDWDMWMR
MPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEA
YEVEVHRLLSEAEVLDHSKNPCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIW
DLDVRGNHRGLWRLFRKKNHFLVVGVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAPEQT
NT seq 1983 nt NT seq  +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
ttcctggtggtgggggtcccggcttccccctactcagtgaagaagccaccctcagtcacc
ccaattttcctggagccacccccaaaggaggagggagccccaggagccccagaacagaca
tga

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