KEGG   Homo sapiens (human): 126792
Entry
126792            CDS       T01001                                 
Symbol
B3GALT6, ALGAZ, EDSP2, EDSSPD2, SEMDJL1, beta3GalT6
Name
(RefSeq) beta-1,3-galactosyltransferase 6
  KO
K00734  galactosylxylosylprotein 3-beta-galactosyltransferase [EC:2.4.1.134]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00532  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
hsa00534  Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa01100  Metabolic pathways
Module
hsa_M00057  Glycosaminoglycan biosynthesis, linkage tetrasaccharide
Network
nt06029  Glycosaminoglycan biosynthesis
  Element
N01574  Glycosaminoglycan biosynthesis, linkage tetrasaccharide
Disease
H01494  SEMD with joint laxity type
H02239  Ehlers-Danlos syndrome, spondylodysplastic type
H02436  Al-Gazali syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
    126792 (B3GALT6)
   00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    126792 (B3GALT6)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    126792 (B3GALT6)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.134  galactosylxylosylprotein 3-beta-galactosyltransferase
     126792 (B3GALT6)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  O-Glycan
   126792 (B3GALT6)
SSDB
Motif
Pfam: Galactosyl_T
Other DBs
NCBI-GeneID: 126792
NCBI-ProteinID: NP_542172
OMIM: 615291
HGNC: 17978
Ensembl: ENSG00000176022
UniProt: Q96L58
LinkDB
Position
1:1232237..1235041
AA seq 329 aa
MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLA
VLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLL
LLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRR
LYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHS
EDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLC
KREVQLRLSYVYDWSAPPSQCCQRREGIP
NT seq 990 nt   +upstreamnt  +downstreamnt
atgaagctgctgcggcgggcgtggcggcggcgggcggcgctaggcctgggcacgctggcg
ctgtgcggggcggcgctgctctacctggcgcgctgcgcggccgagcccggggaccccagg
gcgatgtcgggccgcagcccgcctccccccgcgcccgcgcgcgccgccgccttcctggca
gtgctggtggccagcgcgccccgcgccgccgagcgccgcagcgtgatccgcagcacgtgg
cttgcgcggcgcggggccccgggcgacgtgtgggcgcgctttgccgtgggcacggccggc
ctgggcgccgaggagcggcgcgccctggagcgggagcaggcgcggcacggggacctgctg
ctgctgcccgcgctgcgcgacgcctacgaaaacctcacggccaaggtgctggccatgctg
gcctggctggacgagcacgtggccttcgagttcgtgctcaaggcggacgacgactccttc
gcgcggctggacgcgctgctggccgagctgcgcgcccgcgagcccgcgcgccgccgccgc
ctctactggggcttcttctcgggccgcggccgcgtcaagccgggggggcgctggcgcgag
gccgcctggcaactctgcgactactacctgccctacgcgctgggcggcggctacgtgctc
tcggccgacctggtgcactacctgcgcctcagccgcgactacctgcgcgcctggcacagc
gaggacgtgtctctgggcgcctggctggcgccggtggacgtccagcgggagcacgacccg
cgcttcgacaccgaataccggtcccgcggctgcagcaaccagtacctggtgacgcacaag
cagagcctggaggacatgctggagaagcacgcgacgctggcgcgcgagggccgcctgtgc
aagcgcgaggtgcagctgcgcctgtcctacgtgtacgactggtccgcgccgccctcgcag
tgctgccagagaagggagggcatcccctga

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