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B4GALT1 (beta-1,4-galactosyltransferase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2683
Gene nameGene Name - the full gene name approved by the HGNC.
Beta-1,4-galactosyltransferase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
B4GALT1
SynonymsGene synonyms aliases
B4GAL-T1, CDG2D, CLDLFIB, GGTB2, GT1, GTB, beta4Gal-T1
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to si
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs182359666 T>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant
rs1564035076 ->G Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002675 hsa-miR-124-3p Microarray 15685193
MIRT020817 hsa-miR-155-5p Proteomics 18668040
MIRT021980 hsa-miR-128-3p Microarray 17612493
MIRT002675 hsa-miR-124-3p Microarray 18668037
MIRT002675 hsa-miR-124-3p Microarray 15685193
Transcription factors
Transcription factor Regulation Reference
SP1 Activation 17557191
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000138 Component Golgi trans cisterna IDA 6121819
GO:0000139 Component Golgi membrane TAS
GO:0002064 Process Epithelial cell development IEA
GO:0002526 Process Acute inflammatory response IEA
GO:0003831 Function Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P15291
Protein name Beta-1,4-galactosyltransferase 1 (Beta-1,4-GalTase 1) (Beta4Gal-T1) (b4Gal-T1) (EC 2.4.1.-) (Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase) (Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase) (EC 2.4.1.38) (Lactose
Protein function [Beta-1,4-galactosyltransferase 1]: The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well
PDB 2AE7 , 2AEC , 2AES , 2AGD , 2AH9 , 2FY7 , 2FYA , 2FYB , 3EE5 , 4EE3 , 4EE4 , 4EE5 , 4EEA , 4EEG , 4EEM , 4EEO , 4L41 , 6FWT , 6FWU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13733 Glyco_transf_7N
130 263
N-terminal region of glycosyl transferase group 7
Domain
PF02709 Glyco_transf_7C
267 344
N-terminal domain of galactosyltransferase
Family
Sequence
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPL
QGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVP
HTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAI
IIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYD
YTCFVFSDVDLIPMNDHNAYRCF
SQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTI
NGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHS
RDKKNEPNPQRFDRIA
HTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS
Sequence length 398
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Galactose metabolism
N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Other types of O-glycan biosynthesis
Mannose type O-glycan biosynthesis
Glycosaminoglycan biosynthesis - keratan sulfate
Glycosphingolipid biosynthesis - lacto and neolacto series
Metabolic pathways
  Keratan sulfate biosynthesis
Interaction With Cumulus Cells And The Zona Pellucida
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Lactose synthesis
Neutrophil degranulation
N-Glycan antennae elongation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Congenital disorder of glycosylation Congenital disorder of glycosylation type 2D, B4GALT1-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425 11901181, 21920538, 27604308
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease name Disease term dbSNP ID References
Dandy-walker syndrome Dandy-Walker Syndrome

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