| Entry |
|
| Gene name |
B4GALT1, B4GAL-T1, CDG2D, GGTB2, GT1, GTB, beta4Gal-T1
|
| Definition |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (EC:2.4.1.22 2.4.1.90 2.4.1.38)
|
| Orthology |
|
| Organism |
|
| Pathway |
| Galactose metabolism | | N-Glycan biosynthesis | | Other types of O-glycan biosynthesis | | Glycosaminoglycan biosynthesis - keratan sulfate | | Glycosphingolipid biosynthesis - lacto and neolacto series | | Metabolic pathways |
|
| Module |
| Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer | | N-glycan biosynthesis, complex type |
|
| Disease |
| Congenital disorders of glycosylation (CDG) type II |
|
| Class |
Metabolism; Carbohydrate metabolism; Galactose metabolism [PATH: hsa00052]
Metabolism; Glycan biosynthesis and metabolism; N-Glycan biosynthesis [PATH: hsa00510]
Metabolism; Glycan biosynthesis and metabolism; Other types of O-glycan biosynthesis [PATH: hsa00514]
Metabolism; Glycan biosynthesis and metabolism; Glycosaminoglycan biosynthesis - keratan sulfate [PATH: hsa00533]
Metabolism; Glycan biosynthesis and metabolism; Glycosphingolipid biosynthesis - lacto and neolacto series [PATH: hsa00601]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Structure |
PDB: |
| Position |
9p13
|
| AA seq |
398 aa  
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPL
QGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVP
HTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAI
IIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYD
YTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTI
NGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIA
HTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS |
| NT seq |
1197 nt  +upstreamnt +downstreamnt
atgaggcttcgggagccgctcctgagcggcagcgccgcgatgccaggcgcgtccctacag
cgggcctgccgcctgctcgtggccgtctgcgctctgcaccttggcgtcaccctcgtttac
tacctggctggccgcgacctgagccgcctgccccaactggtcggagtctccacaccgctg
cagggcggctcgaacagtgccgccgccatcgggcagtcctccggggagctccggaccgga
ggggcccggccgccgcctcctctaggcgcctcctcccagccgcgcccgggtggcgactcc
agcccagtcgtggattctggccctggccccgctagcaacttgacctcggtcccagtgccc
cacaccaccgcactgtcgctgcccgcctgccctgaggagtccccgctgcttgtgggcccc
atgctgattgagtttaacatgcctgtggacctggagctcgtggcaaagcagaacccaaat
gtgaagatgggcggccgctatgcccccagggactgcgtctctcctcacaaggtggccatc
atcattccattccgcaaccggcaggagcacctcaagtactggctatattatttgcaccca
gtcctgcagcgccagcagctggactatggcatctatgttatcaaccaggcgggagacact
atattcaatcgtgctaagctcctcaatgttggctttcaagaagccttgaaggactatgac
tacacctgctttgtgtttagtgacgtggacctcattccaatgaatgaccataatgcgtac
aggtgtttttcacagccacggcacatttccgttgcaatggataagtttggattcagccta
ccttatgttcagtattttggaggtgtctctgctctaagtaaacaacagtttctaaccatc
aatggatttcctaataattattggggctggggaggagaagatgatgacatttttaacaga
ttagtttttagaggcatgtctatatctcgcccaaatgctgtggtcgggaggtgtcgcatg
atccgccactcaagagacaagaaaaatgaacccaatcctcagaggtttgaccgaattgca
cacacaaaggagacaatgctctctgatggtttgaactcactcacctaccaggtgctggat
gtacagagatacccattgtatacccaaatcacagtggacatcgggacaccgagctag |