O43505

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession B4GA1_HUMAN; O43505;
Entrez ID 11041
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Beta-1,4-glucuronyltransferase 1 (EC 2.4.1.-) (I-beta-1,3-N-acetylglucosaminyltransferase) (iGnT) (N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase) (Poly-N-acetyllactosamine extension enzyme) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminy
Gene Name B4GAT1; B3GNT1; B3GNT6
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionBeta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). 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, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate 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, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).
Sequence
(Fasta)		MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP PSPRSVDQVK 60
AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH ASVDNLLHLS GLLERWEGPL 120
SVSVFAATKE EAQLATVLAY ALSSHCPDMR ARVAMHLVCP SRYEAAVPDP REPGEFALLR 180
SCQEVFDKLA RVAQPGINYA LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL 240
REMLDQSNQW GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN 300
YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI SQACELHVAG 360
FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF KQELKAKYPN SPRRC 416

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1GlycosylationWalker-Warburg syndromeC23877401
[Reference]: This report describes the first truncating mutation in B3GNT1 and confirms that this gene, which plays a role in DG glycosylation, is a bona fide disease gene in WWS.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 1)		MESH:D058494 ; Walker-Warburg Syndrome
DisGeNet (Curated)
(count: 22)
(view all)		C0010964; Dandy-Walker Syndrome
C0014544; Epilepsy
C0020255; Hydrocephalus
C0026850; Muscular Dystrophy
C0035313; Retinal Dysplasia
C0036572; Seizures

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 3)		 411       LKAKYPNSPRRC***     dbPAF
65        QVKAQLRTALASGGV     dbPAF
69        QLRTALASGGVLDAS     dbPAF
Ubiquitination
(count: 4)		 188       SCQEVFDKLARVAQP     PLMD
377       FLVHKGFKEALKFHP     PLMD
394       EAENQHNKILYRQFK     PLMD
60        PRSVDQVKAQLRTAL     PLMD
Glycation
(count: 1)		 386       ALKFHPQKEAENQHN     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource