KEGG   Homo sapiens (human): 11041
Entry
11041             CDS       T01001                                 

Gene name
B4GAT1, B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT
Definition
(RefSeq) beta-1,4-glucuronyltransferase 1
  KO
K21032  beta-1,4-glucuronyltransferase 1 [EC:2.4.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00515  Mannose type O-glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00872  O-glycan biosynthesis, mannose type (core M3)
Network
nt06013  O-Glycan biosynthesis
  Element
N00628  LARGE1 deficiency in mannose type O-glycan biosynthesis
N00629  B4GAT1 deficiency in mannose type O-glycan biosynthesis
N00699  Mannose type O-glycan biosynthesis, FKTN to LARGE
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H02307  Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00515 Mannose type O-glycan biosynthesis
    11041 (B4GAT1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    11041 (B4GAT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.-  
     11041 (B4GAT1)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  O-Glycan
   11041 (B4GAT1)
SSDB
Motif
Pfam: Glyco_transf_49 GspL_C
Other DBs
NCBI-GeneID: 11041
NCBI-ProteinID: NP_006867
OMIM: 605517
HGNC: 15685
Ensembl: ENSG00000174684
Vega: OTTHUMG00000167082
Pharos: O43505(Tbio)
UniProt: O43505 A0A024R5F9
Position
11q13.2
AA seq 415 aa
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVK
AQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPL
SVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCPSRYEAAVPDPREPGEFALLR
SCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGL
REMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTN
YSRWVNLPEESLLRPAYVVPWQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAG
FDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQFKQELKAKYPNSPRRC
NT seq 1248 nt   +upstreamnt  +downstreamnt
atgcagatgtcctacgccatccggtgcgccttctaccagctgctgctggccgcgctcatg
ctggtggcgatgctgcagctgctctacctgtcgctgctgtccggactgcacgggcaggag
gagcaagaccaatattttgagttctttcccccgtccccacggtccgtggaccaggtcaag
gcgcagctccgcaccgcgctggcctctggaggcgtcctggacgctagcggcgattaccgc
gtctacaggggcctgctgaagaccaccatggaccccaacgatgtgatcctggccacgcac
gccagcgtggacaacctgctgcacctgtcgggtctgctggagcgctgggagggcccgctg
tccgtgtcggtgttcgcggccaccaaggaggaggcgcagctggccacggtgctggcctac
gcgctgagcagccactgccccgacatgcgcgccagggtcgccatgcacctcgtgtgcccc
tcgcgttacgaggcagccgtgcccgacccccgggagccgggggagtttgccctgctgcgg
tcctgccaggaggtctttgacaagctagccagggtggcccagcccgggattaattatgcg
ctgggcaccaatgtctcctaccccaataacctgctgaggaatctggctcgtgagggggcc
aactatgccctggtgatcgatgtggacatggtgcccagcgaggggctgtggagaggcctg
cgggaaatgctggatcagagcaaccagtggggaggcaccgcgctggtggtgcctgccttc
gaaatccgaagagcccgccgcatgcccatgaacaaaaacgagctggtgcagctctaccag
gttggcgaggtgcggcccttctattatgggttgtgcaccccctgccaggcacccaccaac
tattcccgctgggtcaacctgccggaagagagcttgctgcggcccgcctacgtggtacct
tggcaggacccctgggagccattctacgtggcaggaggcaaggtgcccaccttcgacgag
cgctttcggcagtacggcttcaaccgaatcagccaggcctgcgagctgcatgtggcgggg
tttgattttgaggtcctgaacgaaggtttcttggttcataagggcttcaaagaagcgttg
aagttccatccccaaaaggaggctgaaaatcagcacaataagatcctatatcgccagttc
aaacaggagttgaaggccaagtaccccaactctccccgacgctgctga

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