Gene table of B4GALNT1 : beta-1,4-N-acetyl-galactosaminyltransferase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with B4GALNT1	OMIM link	Number of associated genes	genes
PS303350	SPASTIC PARAPLEGIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	47	KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Glycosphingolipid biosynthesis - ganglio series	hsa00604	8.77
Metabolic pathways	hsa01100	2.49

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
transferase activity, transferring glycosyl groups	GO:0016757	4.08
transferase activity, transferring hexosyl groups	GO:0016758	4.43
acetylgalactosaminyltransferase activity	GO:0008376	6.21
UDP-glycosyltransferase activity	GO:0008194	4.81
(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	GO:0003947	9.74