B4gat1
entrez
108902
canonical
uniprot
Q8BWP8
canonical
ensembl
ENSMUSG00000047379
resolver
ensembl
ENSMUSG00000117789
resolver
ensp
ENSMUSP00000062016
resolver
genesymbol
B4gat1
resolver
genesymbol_syn
B3gnt1
resolver
genesymbol_syn
B3gnt6
resolver
uniprot
Q3TY43
resolver
uniprot
Q8BJH9
resolver
uniprot
Q99LW7
resolver
uniprot_entry
B4GA1_MOUSE
resolver
uniprot_sec
Q3TY43
resolver
uniprot_sec
Q8BJH9
resolver
uniprot_sec
Q99LW7
resolver
amino_acid_sequence
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQEQYFEFFPPSPRSVDQVKSQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPEMRARVAMHLVCPSRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNTSYPNNLLRNLAREEANYALVIDVDMVPSEGLWRGLREMLDQSNHWDGTALVVPAFEIRRSRRMPMNKNELVQLYQVGEVRPFYYGLCTPCHAPTNYSRWVNLPEESLLRPAYVVPWRDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFNFEVLNEGFLVHKGFKEALKFHPQKEAENQRNKILYRQFKQELKARYPNSPHRC
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
function
FUNCTION: Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1) (PubMed:23217742, PubMed:25279699). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699). Phosphorylated O-mannosyl glycan is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (PubMed:23217742). {ECO:0000269|PubMed:23217742, ECO:0000269|PubMed:25279699}.
uniprot
proteins
mass_dalton
47384
uniprot
proteins
mutagenesis
MUTAGEN 155; /note="M->T: Mild muscular dystrophy phenotype of variable penetrance due to defects in axon guidance. Mislocalization to the endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:23217742
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:25279699}.
uniprot
proteins
protein_family
Glycosyltransferase 49 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
23217742
uniprot
proteins
pubmed
25279699
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:23217742}; Single-pass type II membrane protein. Note=Localizes near the trans-Golgi apparatus. {ECO:0000250|UniProtKB:O43505}.
uniprot
proteins
transmembrane_region
TRANSMEM 9..36; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins