KEGG   Homo sapiens (human): 11285
Entry
11285             CDS       T01001                                 

Gene name
B4GALT7, EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1
Definition
(RefSeq) beta-1,4-galactosyltransferase 7
  KO
K00733  xylosylprotein 4-beta-galactosyltransferase [EC:2.4.1.133]
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
Disease
H02239  Ehlers-Danlos syndrome, spondylodysplastic type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
    11285 (B4GALT7)
   00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    11285 (B4GALT7)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    11285 (B4GALT7)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.133  xylosylprotein 4-beta-galactosyltransferase
     11285 (B4GALT7)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  O-Glycan
   11285 (B4GALT7)
SSDB
Motif
Pfam: Glyco_transf_7C Glyco_transf_7N
Other DBs
NCBI-GeneID: 11285
NCBI-ProteinID: NP_009186
OMIM: 604327
HGNC: 930
Ensembl: ENSG00000027847
Vega: OTTHUMG00000130851
Pharos: Q9UBV7(Tbio)
UniProt: Q9UBV7
Structure
PDB: 
4IRP 4IRQ

Position
5q35.3
AA seq 327 aa
MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARA
VRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLS
RKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEA
GPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
QLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTAL
SVGGAPCTVLNIMLDCDKTATPWCTFS
NT seq 984 nt   +upstreamnt  +downstreamnt
atgttcccctcgcggaggaaagcggcgcagctgccctgggaggacggcaggtccgggttg
ctctccggcggcctccctcggaagtgttccgtcttccacctgttcgtggcctgcctctcg
ctgggcttcttctccctactctggctgcagctcagctgctctggggacgtggcccgggca
gtcaggggacaagggcaggagacctcgggccctccccgtgcctgccccccagagccgccc
cctgagcactgggaagaagacgcatcctggggcccccaccgcctggcagtgctggtgccc
ttccgcgaacgcttcgaggagctcctggtcttcgtgccccacatgcgccgcttcctgagc
aggaagaagatccggcaccacatctacgtgctcaaccaggtggaccacttcaggttcaac
cgggcagcgctcatcaacgtgggcttcctggagagcagcaacagcacggactacattgcc
atgcacgacgttgacctgctccctctcaacgaggagctggactatggctttcctgaggct
gggcccttccacgtggcctccccggagctccaccctctctaccactacaagacctatgtc
ggcggcatcctgctgctctccaagcagcactaccggctgtgcaatgggatgtccaaccgc
ttctggggctggggccgcgaggacgacgagttctaccggcgcattaagggagctgggctc
cagcttttccgcccctcgggaatcacaactgggtacaagacatttcgccacctgcatgac
ccagcctggcggaagagggaccagaagcgcatcgcagctcaaaaacaggagcagttcaag
gtggacagggagggaggcctgaacactgtgaagtaccatgtggcttcccgcactgccctg
tctgtgggcggggccccctgcactgtcctcaacatcatgttggactgtgacaagaccgcc
acaccctggtgcacattcagctga

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