B4GALT1
entrez
2683
canonical
uniprot
P15291
canonical
ensembl
ENSG00000086062
resolver
ensp
ENSP00000369055
resolver
ensp
ENSP00000440341
resolver
ensp
ENSP00000530430
resolver
enst
ENST00000535206
resolver
genesymbol
B4GALT1
resolver
genesymbol_syn
GGTB2
resolver
hgnc
HGNC:924
resolver
uniprot
B2R710
resolver
uniprot
B7ZAH9
resolver
uniprot
D3DRL2
resolver
uniprot
F6TZK0
resolver
uniprot
Q12909
resolver
uniprot
Q12910
resolver
uniprot
Q12911
resolver
uniprot
Q14456
resolver
uniprot
Q14509
resolver
uniprot
Q14523
resolver
uniprot
Q86XA6
resolver
uniprot
W6MEN3
resolver
uniprot_entry
B4GT1_HUMAN
resolver
uniprot_entry
B7ZAH9_HUMAN
resolver
uniprot_entry
F6TZK0_HUMAN
resolver
uniprot_entry
Q86XA6_HUMAN
resolver
uniprot_entry
W6MEN3_HUMAN
resolver
uniprot_sec
B2R710
resolver
uniprot_sec
D3DRL2
resolver
uniprot_sec
Q12909
resolver
uniprot_sec
Q12910
resolver
uniprot_sec
Q12911
resolver
uniprot_sec
Q14456
resolver
uniprot_sec
Q14509
resolver
uniprot_sec
Q14523
resolver
amino_acid_sequence
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPLQGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYDYTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTINGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2D (CDG2D) [MIM:607091]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:11901181, ECO:0000269|PubMed:30653653, ECO:0000269|PubMed:32157688}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Combined low LDL and fibrinogen (CLDLFIB) [MIM:620364]: An autosomal recessive condition characterized by low plasma LDL-cholesterol and fibrinogen levels, and associated with a decreased risk of coronary artery disease. {ECO:0000269|PubMed:34855475}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
ec_number
2.4.1.22
uniprot
proteins
ec_number
2.4.1.275
uniprot
proteins
ec_number
2.4.1.38
uniprot
proteins
ec_number
2.4.1.90
uniprot
proteins
function
FUNCTION: Galactosyltransferase acting in the Golgi stacks. Catalyzes the transfer of galactose (Gal) from UDP-alpha-D-galactose in beta(1->4) linkage to the non-reducing terminal N-acetylglucosamine (GlcNAc) moieties of glycolipids and complex-type N-linked glycans (PubMed:16157350, PubMed:27872474, PubMed:29133956, PubMed:36280670, PubMed:37632720, PubMed:38321209). Adds one Gal residue to both GlcNAc beta(1->2)-linked to the alpha(1->3) and alpha(1->6) mannose antennae of complex-type N-glycans, enabling the formation of mono- and di-galactosylated glycoforms. Galactosylates complex-type N-glycans attached on the fragment crystallizable (Fc) of immunoglobulin-gamma isotypes (IgGs), a prerequisite for antibody glycan sialylation and related anti-inflammatory effector functions (PubMed:27872474, PubMed:29133956, PubMed:36280670, PubMed:37632720). Can also transfer a Gal residue to free GlcNAc to form N-acetyllactosamine (PubMed:16157350). With LALBA/alpha-lactalbumin forms the lactose synthase complex responsible for production of large amounts of lactose in the lactating mammary gland. Interaction with LALBA alters the sugar substrate specificity of the catalytic domain, enabling high affinity binding of glucose and its transformation to lactose (PubMed:16157350). {ECO:0000269|PubMed:16157350, ECO:0000269|PubMed:27872474, ECO:0000269|PubMed:29133956, ECO:0000269|PubMed:36280670, ECO:0000269|PubMed:37632720, ECO:0000269|PubMed:38321209}.; FUNCTION: [Isoform Long]: The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, like those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix. Acts as a sperm receptor for ZP3 O-linked glycans on the zona pellucida leading to activation of G protein signaling and acrosome reaction. {ECO:0000250|UniProtKB:P15535}.; FUNCTION: [Processed beta-1,4-galactosyltransferase 1]: The secreted form is proficient in galactosyltransferase activity and could be involved in glycan remodeling in biological fluids. {ECO:0000250|UniProtKB:P08037}.
uniprot
proteins
mass_dalton
43920
uniprot
proteins
mutagenesis
MUTAGEN 282; /note="Y->G: Reduction in N-acetylglucosamine binding."; /evidence="ECO:0000269|PubMed:2120039"; MUTAGEN 285; /note="Y->F: No change in enzymatic activity."; /evidence="ECO:0000269|PubMed:2120039"; MUTAGEN 307; /note="Y->G: Reduction in N-acetylglucosamine and UDP-galactose binding."; /evidence="ECO:0000269|PubMed:2120039"; MUTAGEN 308; /note="W->G: Reduction in N-acetylglucosamine binding."; /evidence="ECO:0000269|PubMed:2120039"; MUTAGEN 310; /note="W->G: Reduction in N-acetylglucosamine binding."; /evidence="ECO:0000269|PubMed:2120039"; MUTAGEN 340; /note="M->H: Favors the closed conformation of the enzyme."; /evidence="ECO:0000269|PubMed:16157350
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:16157350, ECO:0000269|PubMed:27872474, ECO:0000269|PubMed:29133956, ECO:0000269|PubMed:36280670}.; PATHWAY: Glycolipid biosynthesis. {ECO:0000250|UniProtKB:P08037}.
uniprot
proteins
post_translational_modification
PTM: The soluble form derives from the membrane forms by proteolytic processing.
uniprot
proteins
protein_family
Glycosyltransferase 7 family
uniprot
proteins
pubmed
10580128
uniprot
proteins
pubmed
11901181
uniprot
proteins
pubmed
1384956
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
16157350
uniprot
proteins
pubmed
16497331
uniprot
proteins
pubmed
1714903
uniprot
proteins
pubmed
1903938
uniprot
proteins
pubmed
19106107
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20378551
uniprot
proteins
pubmed
2120039
uniprot
proteins
pubmed
2124683
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27872474
uniprot
proteins
pubmed
29133956
uniprot
proteins
pubmed
30653653
uniprot
proteins
pubmed
3091013
uniprot
proteins
pubmed
3094506
uniprot
proteins
pubmed
3144273
uniprot
proteins
pubmed
32157688
uniprot
proteins
pubmed
34855475
uniprot
proteins
pubmed
36280670
uniprot
proteins
pubmed
37632720
uniprot
proteins
pubmed
38321209
uniprot
proteins
pubmed
7540104
uniprot
proteins
pubmed
7579794
uniprot
proteins
pubmed
7744867
uniprot
proteins
sequence_length
398
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:29133956}; Single-pass type II membrane protein. Note=Colocalizes with MGAT3 and ST6GAL1 in the Golgi stacks of cisternaee, including the cis-part of the Golgi stacks. {ECO:0000269|PubMed:29133956}.; SUBCELLULAR LOCATION: [Isoform Long]: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:1714903, ECO:0000269|PubMed:20378551}; Single-pass type II membrane protein. Cell membrane {ECO:0000269|PubMed:1714903}; Single-pass type II membrane protein. Cell surface {ECO:0000269|PubMed:1714903}. Cell projection, filopodium {ECO:0000250|UniProtKB:P15535}. Note=Found in trans cisternae of Golgi but is mainly localized at the plasma membrane (PubMed:1714903). B4GALT1 cell surface expression is regulated by UBE2Q1 (By similarity). {ECO:0000250|UniProtKB:P15535, ECO:0000269|PubMed:1714903}.; SUBCELLULAR LOCATION: [Isoform Short]: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:1714903}; Single-pass type II membrane protein. Note=Found in trans cisternae of Golgi. {ECO:0000269|PubMed:1714903}.; SUBCELLULAR LOCATION: [Processed beta-1,4-galactosyltransferase 1]: Secreted {ECO:0000303|PubMed:2120039}. Note=Soluble form found in body fluids. {ECO:0000303|PubMed:2120039}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..44; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins