KEGG   Homo sapiens (human): 56983
Entry
56983             CDS       T01001                                 
Symbol
POGLUT1, C3orf9, CLP46, KDELCL1, KTELC1, LGMD2Z, LGMDR21, MDS010, MDSRP, Rumi, hCLP46
Name
(RefSeq) protein O-glucosyltransferase 1
  KO
K13667  EGF-domain serine glucosyl/xylosyltransferase [EC:2.4.1.376 2.4.2.63]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00514  Other types of O-glycan biosynthesis
Disease
H00593  Limb-girdle muscular dystrophy
H00944  Dowling-Degos disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00514 Other types of O-glycan biosynthesis
    56983 (POGLUT1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    56983 (POGLUT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.376  EGF-domain serine glucosyltransferase
     56983 (POGLUT1)
   2.4.2  Pentosyltransferases
    2.4.2.63  EGF-domain serine xylosyltransferase
     56983 (POGLUT1)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  O-linked Glc type
   56983 (POGLUT1)
SSDB
Motif
Pfam: Glyco_transf_90 Glyco_trans_1_2
Other DBs
NCBI-GeneID: 56983
NCBI-ProteinID: NP_689518
OMIM: 615618
HGNC: 22954
Ensembl: ENSG00000163389
UniProt: Q8NBL1
Structure
LinkDB
Position
3:119468963..119494708
AA seq 392 aa
MEWWASSPLRLWLLLFLLPSAQGRQKESGSKWKVFIDQINRSLENYEPCSSQNCSCYHGV
IEEDLTPFRGGISRKMMAEVVRRKLGTHYQITKNRLYRENDCMFPSRCSGVEHFILEVIG
RLPDMEMVINVRDYPQVPKWMEPAIPVFSFSKTSEYHDIMYPAWTFWEGGPAVWPIYPTG
LGRWDLFREDLVRSAAQWPWKKKNSTAYFRGSRTSPERDPLILLSRKNPKLVDAEYTKNQ
AWKSMKDTLGKPAAKDVHLVDHCKYKYLFNFRGVAASFRFKHLFLCGSLVFHVGDEWLEF
FYPQLKPWVHYIPVKTDLSNVQELLQFVKANDDVAQEIAERGSQFIRNHLQMDDITCYWE
NLLSEYSKFLSYNVTRRKGYDQIIPKMLKTEL
NT seq 1179 nt   +upstreamnt  +downstreamnt
atggagtggtgggctagctcgccgcttcggctctggctgctgttgttcctcctgccctca
gcgcagggccgccagaaggagtcaggttcaaaatggaaagtatttattgaccaaattaac
aggtctttggagaattacgaaccatgttcaagtcaaaactgcagctgctaccatggtgtc
atagaagaggatctaactcctttccgaggaggcatctccaggaagatgatggcagaggta
gtcagacggaagctagggacccactatcagatcactaagaacagactgtaccgggaaaat
gactgcatgttcccctcaaggtgtagtggtgttgagcactttattttggaagtgatcggg
cgtctccctgacatggagatggtgatcaatgtacgagattatcctcaggttcctaaatgg
atggagcctgccatcccagtcttctccttcagtaagacatcagagtaccatgatatcatg
tatcctgcttggacattttgggaagggggacctgctgtttggccaatttatcctacaggt
cttggacggtgggacctcttcagagaagatctggtaaggtcagcagcacagtggccatgg
aaaaagaaaaactctacagcatatttccgaggatcaaggacaagtccagaacgagatcct
ctcattcttctgtctcggaaaaacccaaaacttgttgatgcagaatacaccaaaaaccag
gcctggaaatctatgaaagataccttaggaaagccagctgctaaggatgtccatcttgtg
gatcactgcaaatacaagtatctgtttaattttcgaggcgtagctgcaagtttccggttt
aaacacctcttcctgtgtggctcacttgttttccatgttggtgatgagtggctagaattc
ttctatccacagctgaagccatgggttcactatatcccagtcaaaacagatctctccaat
gtccaagagctgttacaatttgtaaaagcaaatgatgatgtagctcaagagattgctgaa
aggggaagccagtttattaggaaccatttgcagatggatgacatcacctgttactgggag
aacctcttgagtgaatactctaaattcctgtcttataatgtaacgagaaggaaaggttat
gatcaaattattcccaaaatgttgaaaactgaactatag

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