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
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical substance (1)   
   KEGG COMPOUND (1)   
Chemical reaction (3)   
   KEGG ENZYME (2)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (10)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (37)   
   RefSeq(nuc) (9)   
   GenBank (14)   
   EMBL (14)   
3D Structure (6)   
   PDB (6)   
Protein domain (2)   
   Pfam (2)   
All databases (87)   

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