Gene Gene information from NCBI Gene database.
Entrez ID 9334
Gene name Beta-1,4-galactosyltransferase 5
Gene symbol B4GALT5
Synonyms (NCBI Gene)
B4Gal-T5BETA4-GALT-IVbeta4Gal-T5beta4GalT-Vgt-V
Chromosome 20
Chromosome location 20q13.13
Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to si
miRNA miRNA information provided by mirtarbase database.
1185
miRTarBase ID miRNA Experiments Reference
MIRT018798 hsa-miR-335-5p Microarray 18185580
MIRT023032 hsa-miR-124-3p Microarray 18668037
MIRT048365 hsa-miR-29b-3p CLASH 23622248
MIRT041131 hsa-miR-503-5p CLASH 23622248
MIRT437640 hsa-miR-152-3p MicroarrayqRT-PCR 22815788
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 15263012;16873896
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0003945 Function N-acetyllactosamine synthase activity IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005794 Component Golgi apparatus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604016 928 ENSG00000158470
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43286
Protein name Beta-1,4-galactosyltransferase 5 (Beta-1,4-GalTase 5) (Beta4Gal-T5) (b4Gal-T5) (EC 2.4.1.-) (Beta-1,4-GalT II) (Glucosylceramide beta-1,4-galactosyltransferase) (EC 2.4.1.274) (Lactosylceramide synthase) (LacCer synthase) (UDP-Gal:beta-GlcNAc beta-1,4-gal
Protein function Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13733 Glyco_transf_7N 114 249 N-terminal region of glycosyl transferase group 7 Domain
PF02709 Glyco_transf_7C 253 331 N-terminal domain of galactosyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:9435216}.
Sequence
MRARRGLLRLPRRSLLAALFFFSLSSSLLYFVYVAPGIVNTYLFMMQAQGILIRDNVRTI
GAQVYEQVLRSAYAKRNSSVNDSDYPLDLNHSETFLQTTTFLPEDFTYFANHTCPERLPS
MKGPIDINMSEIGMDYIHELFSKDPTIKLGGHWKPSDCMPRWKVAILIPFRNRHEHLPVL
FRHLLPMLQRQRLQFAFYVVEQVGTQPFNRAMLFNVGFQEAMKDLDWDCLIFHDVDHIPE
SDRNYYGCG
QMPRHFATKLDKYMYLLPYTEFFGGVSGLTVEQFRKINGFPNAFWGWGGED
DDLWNRVQNAGYSVSRPEGDTGKYKSIPHHH
RGEVQFLGRYALLRKSKERQGLDGLNNLN
YFANITYDALYKNITVNLTPELAQVNEY
Sequence length 388
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mucin type O-glycan biosynthesis
Sphingolipid metabolism
Metabolic pathways
  Keratan sulfate biosynthesis
O-linked glycosylation of mucins
N-Glycan antennae elongation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma Pubtator 11501750 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 9435216 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35410157, 40159482 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomegaly Cardiomegaly Pubtator 37658291 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30502090
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 29415997
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 29415997
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 16461357, 17938207, 29269413 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 29269413
★☆☆☆☆
Found in Text Mining only
Hypertrophy Hypertrophy Pubtator 37658291 Associate
★☆☆☆☆
Found in Text Mining only