B4GAT1
entrez
11041
canonical
uniprot
O43505
canonical
ensembl
ENSG00000174684
resolver
ensp
ENSP00000309096
resolver
enst
ENST00000311181
resolver
genesymbol
B4GAT1
resolver
genesymbol_syn
B3GNT1
resolver
genesymbol_syn
B3GNT6
resolver
hgnc
HGNC:15685
resolver
uniprot
Q4TTN0
resolver
uniprot_entry
B4GA1_HUMAN
resolver
uniprot_sec
Q4TTN0
resolver
amino_acid_sequence
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCPSRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGLREMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVPWQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQFKQELKAKYPNSPRRC
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:23877401}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
function
FUNCTION: Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1) (PubMed:19587235, PubMed:23359570, PubMed:25279697, 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:25279697, 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:25279697, PubMed:25279699). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity). {ECO:0000250|UniProtKB:Q8BWP8, ECO:0000269|PubMed:19587235, ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:25279699}.
uniprot
proteins
mass_dalton
47119
uniprot
proteins
mutagenesis
MUTAGEN 155; /note="M->T: In Mut3; mislocalization to the endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:25279699"; MUTAGEN 227..229; /note="DVD->NVN: In Mut2; mislocalization to the endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:25279699
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:9405606}.
uniprot
proteins
protein_family
Glycosyltransferase 49 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19587235
uniprot
proteins
pubmed
23359570
uniprot
proteins
pubmed
23877401
uniprot
proteins
pubmed
25279697
uniprot
proteins
pubmed
25279699
uniprot
proteins
pubmed
9405606
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:19587235, ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein {ECO:0000269|PubMed:23359570}. Note=Localizes near the trans-Golgi apparatus. {ECO:0000269|PubMed:25279699}.
uniprot
proteins
transmembrane_region
TRANSMEM 9..36; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins