| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2683 |
Name | B4GALT1 |
Synonym | B4GAL-T1|CDG2D|GGTB2|GT1|GTB|beta4Gal-T1;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1;B4GALT1;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 |
Definition | UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1|beta-1,4-GalTase 1|beta-1,4-galactosyltransferase 1|glycoprotein-4-beta-galactosyltransferase 2|lactose synthase |
Position | 9p13 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | N-Glycan biosynthesis;KEGG PATHWAY;hsa00510 |
Pathway | Galactose metabolism;KEGG PATHWAY;hsa00052 |
Pathway | Glycosaminoglycan biosynthesis - keratan sulfate;KEGG PATHWAY;hsa00533 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Glycosphingolipid biosynthesis - lacto and neolacto series;KEGG PATHWAY;hsa00601 |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Hydrocephalus;FunDO |
Disease | Congenital disorders of glycosylation (CDG) type II;KEGG DISEASE;H00119 |
Disease | Nervous system disease;FunDO |
Disease | Disseminated cancer;FunDO |
Disease | Congenital disorder of glycosylation, type IId;OMIM |
Disease | Inherited disorders of glycan/glycoprotein metabolism;KEGG DISEASE |
External Links | |
Links to Entrez Gene | 2683 |
Links to all GeneRIF Items | 2683 |
Links to iHOP | 2683 |
Sequence Information | |
Nucleotide Sequence | >2683 : length: 4214 GCGCCTCGGGCGGCTTCTCGCCGCTCCCAGGTCTGGCTGGCTGGAGGAGTCTCAGCTCTC AGCCGCTCGCCCGCCCCCGCTCCGGGCCCTCCCCTAGTCGCCGCTGTGGGGCAGCGCCTG GCGGGCGGCCCGCGGGCGGGTCGCCTCCCCTCCTGTAGCCCACACCCTTCTTAAAGCGGC GGCGGGAAGATGAGGCTTCGGGAGCCGCTCCTGAGCGGCAGCGCCGCGATGCCAGGCGCG TCCCTACAGCGGGCCTGCCGCCTGCTCGTGGCCGTCTGCGCTCTGCACCTTGGCGTCACC CTCGTTTACTACCTGGCTGGCCGCGACCTGAGCCGCCTGCCCCAACTGGTCGGAGTCTCC ACACCGCTGCAGGGCGGCTCGAACAGTGCCGCCGCCATCGGGCAGTCCTCCGGGGAGCTC CGGACCGGAGGGGCCCGGCCGCCGCCTCCTCTAGGCGCCTCCTCCCAGCCGCGCCCGGGT GGCGACTCCAGCCCAGTCGTGGATTCTGGCCCTGGCCCCGCTAGCAACTTGACCTCGGTC CCAGTGCCCCACACCACCGCACTGTCGCTGCCCGCCTGCCCTGAGGAGTCCCCGCTGCTT GTGGGCCCCATGCTGATTGAGTTTAACATGCCTGTGGACCTGGAGCTCGTGGCAAAGCAG AACCCAAATGTGAAGATGGGCGGCCGCTATGCCCCCAGGGACTGCGTCTCTCCTCACAAG GTGGCCATCATCATTCCATTCCGCAACCGGCAGGAGCACCTCAAGTACTGGCTATATTAT TTGCACCCAGTCCTGCAGCGCCAGCAGCTGGACTATGGCATCTATGTTATCAACCAGGCG GGAGACACTATATTCAATCGTGCTAAGCTCCTCAATGTTGGCTTTCAAGAAGCCTTGAAG GACTATGACTACACCTGCTTTGTGTTTAGTGACGTGGACCTCATTCCAATGAATGACCAT AATGCGTACAGGTGTTTTTCACAGCCACGGCACATTTCCGTTGCAATGGATAAGTTTGGA TTCAGCCTACCTTATGTTCAGTATTTTGGAGGTGTCTCTGCTCTAAGTAAACAACAGTTT CTAACCATCAATGGATTTCCTAATAATTATTGGGGCTGGGGAGGAGAAGATGATGACATT TTTAACAGATTAGTTTTTAGAGGCATGTCTATATCTCGCCCAAATGCTGTGGTCGGGAGG TGTCGCATGATCCGCCACTCAAGAGACAAGAAAAATGAACCCAATCCTCAGAGGTTTGAC CGAATTGCACACACAAAGGAGACAATGCTCTCTGATGGTTTGAACTCACTCACCTACCAG GTGCTGGATGTACAGAGATACCCATTGTATACCCAAATCACAGTGGACATCGGGACACCG AGCTAGCGTTTTGGTACACGGATAAGAGACCTGAAATTAGCCAGGGACCTCTGCTGTGTG TCTCTGCCAATCTGCTGGGCTGGTCCCTCTCATTTTTACCAGTCTGAGTGACAGGTCCCC TTCGCTCATCATTCAGATGGCTTTCCAGATGACCAGGACGAGTGGGATATTTTGCCCCCA ACTTGGCTCGGCATGTGAATTCTTAGCTCTGCAAGGTGTTTATGCCTTTGCGGGTTTCTT GATGTGTTCGCAGTGTCACCCCAGAGTCAGAACTGTACACATCCCAAAATTTGGTGGCCG TGGAACACATTCCCGGTGATAGAATTGCTAAATTGTCGTGAAATAGGTTAGAATTTTTCT TTAAATTATGGTTTTCTTATTCGTGAAAATTCGGAGAGTGCTGCTAAAATTGGATTGGTG TGATCTTTTTGGTAGTTGTAATTTAACAGAAAAACACAAAATTTCAACCATTCTTAATGT TACGTCCTCCCCCCACCCCCTTCTTTCAGTGGTATGCAACCACTGCAATCACTGTGCATA TGTCTTTTCTTAGCAAAAGGATTTTAAAACTTGAGCCCTGGACCTTTTGTCCTATGTGTG TGGATTCCAGGGCAACTCTAGCATCAGAGCAAAAGCCTTGGGTTTCTCGCATTCAGTGGC CTATCTCCAGATTGTCTGATTTCTGAATGTAAAGTTGTTGTGTTTTTTTTTAAATAGTAG TTTGTAGTATTTTAAAGAAAGAACAGATCGAGTTCTAATTATGATCTAGCTTGATTTTGT GTTGATCCAAATTTGCATAGCTGTTTAATGTTAAGTCATGACAATTTATTTTTCTTGGCA TGCTATGTAAACTTGAATTTCCTATGTATTTTTATTGTGGTGTTTTAAATATGGGGAGGG GTATTGAGCATTTTTTAGGGAGAAAAATAAATATATGCTGTAGTGGCCACAAATAGGCCT ATGATTTAGCTGGCAGGCCAGGTTTTCTCAAGAGCAAAATCACCCTCTGGCCCCTTGGCA GGTAAGGCCTCCCGGTCAGCATTATCCTGCCAGACCTCGGGGAGGATACCTGGGAGACAG AAGCCTCTGCACCTACTGTGCAGAACTCTCCACTTCCCCAACCCTCCCCAGGTGGGCAGG GCGGAGGGAGCCTCAGCCTCCTTAGACTGACCCCTCAGGCCCCTAGGCTGGGGGGTTGTA AATAACAGCAGTCAGGTTGTTTACCAGCCCTTTGCACCTCCCCAGGCAGAGGGAGCCTCT GTTCTGGTGGGGGCCACCTCCCTCAGAGGCTCTGCTAGCCACACTCCGTGGCCCACCCTT TGTTACCAGTTCTTCCTCCTTCCTCTTTTCCCCTGCCTTTCTCATTCCTTCCTTCGTCTC CCTTTTTGTTCCTTTGCCTCTTGCCTGTCCCCTAAAACTTGACTGTGGCACTCAGGGTCA AACAGACTATCCATTCCCCAGCATGAATGTGCCTTTTAATTAGTGATCTAGAAAGAAGTT CAGCCGAACCCACACCCCAACTCCCTCCCAAGAACTTCGGTGCCTAAAGCCTCCTGTTCC ACCTCAGGTTTTCACAGGTGCTCCCACCCCAGTTGAGGCTCCCACCCACAGGGCTGTCTG TCACAAACCCACCTCTGTTGGGAGCTATTGAGCCACCTGGGATGAGATGACACAAGGCAC TCCTACCACTGAGCGCCTTTGCCAGGTCCAGCCTGGGCTCAGGTTCCAAGACTCAGCTGC CTAATCCCAGGGTTGAGCCTTGTGCTCGTGGCGGACCCCAAACCACTGCCCTCCTGGGTA CCAGCCCTCAGTGTGGAGGCTGAGCTGGTGCCTGGCCCCAGTCTTATCTGTGCCTTTACT GCTTTGCGCATCTCAGATGCTAACTTGGTTCTTTTTCCAGAAGCCTTTGTATTGGTTAAA AATTATTTTCCATTGCAGAAGCAGCTGGACTATGCAAAAAGTATTTCTCTGTCAGTTCCC CACTCTATACCAAGGATATTATTAAAACTAGAAATGACTGCATTGAGAGGGAGTTGTGGG AAATAAGAAGAATGAAAGCCTCTCTTTCTGTCCGCAGATCCTGACTTTTCCAAAGTGCCT TAAAAGAAATCAGACAAATGCCCTGAGTGGTAACTTCTGTGTTATTTTACTCTTAAAACC AAACTCTACCTTTTCTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTACCTTCT CATTCATGTCAAGTATGTGGTTCATTCTTAGAACCAAGGGAAATACTGCTCCCCCCATTT GCTGACGTAGTGCTCTCATGGGCTCACCTGGGCCCAAGGCACAGCCAGGGCACAGTTAGG CCTGGATGTTTGCCTGGTCCGTGAGATGCCGCGGGTCCTGTTTCCTTACTGGGGATTTCA GGGCTGGGGGTTCAGGGAGCATTTCCTTTTCCTGGGAGTTATGACCGCGAAGTTGTCATG TGCCGTGCCCTTTTCTGTTTCTGTGTATCCTATTGCTGGTGACTCTGTGTGAACTGGCCT TTGGGAAAGATCAGAGAGGGCAGAGGTGGCACAGGACAGTAAAGGAGATGCTGTGCTGGC CTTCAGCCTGGACAGGGTCTCTGCTGACTGCCAGGGGCGGGGGCTCTGCATAGCCAGGAT GACGGCTTTCATGTCCCAGAGACCTGTTGTGCTGTGTATTTTGATTTCCTGTGTATGCAA ATGTGTGTATTTACCATTGTGTAGGGGGCTGTGTCTGATCTTGGTGTTCAAAACAGAACT GTATTTTTGCCTTTAAAATTAAATAATATAACGTGAATAAATGACCCTATCTTTGTAACA AAAAAAAAAAAAAA |
Protein Sequence | >2683 : length: 398 MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPL QGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVP HTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAI IIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYD YTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTI NGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIA HTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS |