KEGG   Homo sapiens (human): 2683Help
Entry
2683              CDS       T01001                                 

Gene name
B4GALT1, B4GAL-T1, CDG2D, GGTB2, GT1, GTB, beta4Gal-T1
Definition
(RefSeq) beta-1,4-galactosyltransferase 1
  KO
K07966  beta-1,4-galactosyltransferase 1 [EC:2.4.1.22 2.4.1.90 2.4.1.38 2.4.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00052  Galactose metabolism
hsa00510  N-Glycan biosynthesis
hsa00514  Other types of O-glycan biosynthesis
hsa00515  Mannose type O-glycan biosynthesis
hsa00533  Glycosaminoglycan biosynthesis - keratan sulfate
hsa00601  Glycosphingolipid biosynthesis - lacto and neolacto series
hsa01100  Metabolic pathways
Module
hsa_M00071  Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer
hsa_M00075  N-glycan biosynthesis, complex type
Disease
H00119  Congenital disorders of glycosylation (CDG) type II
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Carbohydrate metabolism
   00052 Galactose metabolism
    2683 (B4GALT1)
  Glycan biosynthesis and metabolism
   00510 N-Glycan biosynthesis
    2683 (B4GALT1)
   00515 Mannose type O-glycan biosyntheis
    2683 (B4GALT1)
   00514 Other types of O-glycan biosynthesis
    2683 (B4GALT1)
   00533 Glycosaminoglycan biosynthesis - keratan sulfate
    2683 (B4GALT1)
   00601 Glycosphingolipid biosynthesis - lacto and neolacto series
    2683 (B4GALT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.22  lactose synthase
     2683 (B4GALT1)
    2.4.1.38  beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
     2683 (B4GALT1)
    2.4.1.90  N-acetyllactosamine synthase
     2683 (B4GALT1)
    2.4.1.-  
     2683 (B4GALT1)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  Type 2 chain/Poly-N-acetyllactosamine
   2683 (B4GALT1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Calcium ion-dependent exocytosis
   Acrosomal exocytosis proteins
    2683 (B4GALT1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of breast milk
   2683 (B4GALT1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Glyco_transf_7N Glyco_transf_7C Glyco_tranf_2_2
Motif
Other DBs
NCBI-GeneID: 2683
NCBI-ProteinID: NP_001488
OMIM: 137060
HGNC: 924
Ensembl: ENSG00000086062
Vega: OTTHUMG00000019764
Pharos: P15291(Tbio)
UniProt: P15291
Structure
PDB: 

Jmol
Position
9p21.1
AA seq 398 aa AA seqDB search
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPL
QGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVP
HTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAI
IIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYD
YTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTI
NGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIA
HTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS
NT seq 1197 nt NT seq  +upstreamnt  +downstreamnt
atgaggcttcgggagccgctcctgagcggcagcgccgcgatgccaggcgcgtccctacag
cgggcctgccgcctgctcgtggccgtctgcgctctgcaccttggcgtcaccctcgtttac
tacctggctggccgcgacctgagccgcctgccccaactggtcggagtctccacaccgctg
cagggcggctcgaacagtgccgccgccatcgggcagtcctccggggagctccggaccgga
ggggcccggccgccgcctcctctaggcgcctcctcccagccgcgcccgggtggcgactcc
agcccagtcgtggattctggccctggccccgctagcaacttgacctcggtcccagtgccc
cacaccaccgcactgtcgctgcccgcctgccctgaggagtccccgctgcttgtgggcccc
atgctgattgagtttaacatgcctgtggacctggagctcgtggcaaagcagaacccaaat
gtgaagatgggcggccgctatgcccccagggactgcgtctctcctcacaaggtggccatc
atcattccattccgcaaccggcaggagcacctcaagtactggctatattatttgcaccca
gtcctgcagcgccagcagctggactatggcatctatgttatcaaccaggcgggagacact
atattcaatcgtgctaagctcctcaatgttggctttcaagaagccttgaaggactatgac
tacacctgctttgtgtttagtgacgtggacctcattccaatgaatgaccataatgcgtac
aggtgtttttcacagccacggcacatttccgttgcaatggataagtttggattcagccta
ccttatgttcagtattttggaggtgtctctgctctaagtaaacaacagtttctaaccatc
aatggatttcctaataattattggggctggggaggagaagatgatgacatttttaacaga
ttagtttttagaggcatgtctatatctcgcccaaatgctgtggtcgggaggtgtcgcatg
atccgccactcaagagacaagaaaaatgaacccaatcctcagaggtttgaccgaattgca
cacacaaaggagacaatgctctctgatggtttgaactcactcacctaccaggtgctggat
gtacagagatacccattgtatacccaaatcacagtggacatcgggacaccgagctag

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