Gene Gene information from NCBI Gene database.
Entrez ID 283464
Gene name Glucoside xylosyltransferase 1
Gene symbol GXYLT1
Synonyms (NCBI Gene)
GLT8D3
Chromosome 12
Chromosome location 12q12
Summary GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM
miRNA miRNA information provided by mirtarbase database.
955
miRTarBase ID miRNA Experiments Reference
MIRT018293 hsa-miR-335-5p Microarray 18185580
MIRT022844 hsa-miR-124-3p Microarray 18668037
MIRT028207 hsa-miR-33a-5p Sequencing 20371350
MIRT048614 hsa-miR-99a-5p CLASH 23622248
MIRT636487 hsa-miR-4698 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
GO:0016266 Process Protein O-linked glycosylation via N-acetyl-galactosamine IBA
GO:0016266 Process Protein O-linked glycosylation via N-acetyl-galactosamine IDA 19940119
GO:0016266 Process Protein O-linked glycosylation via N-acetyl-galactosamine IEA
GO:0016740 Function Transferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613321 27482 ENSG00000151233
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4G148
Protein name Glucoside xylosyltransferase 1 (EC 2.4.2.42) (Glycosyltransferase 8 domain-containing protein 3)
Protein function Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01501 Glyco_transf_8 115 364 Glycosyl transferase family 8 Family
Sequence
MRRYLRVVVLCVACGFCSLLYAFSQLAVSLEEGTGGGGGKPQAAVASWLAGGGRGAVRGA
GVAGPAAHPGVSDRCKDFSLCYWNPYWMLPSDVCGMNCFWEAAFRYSLKIQPVEKMHLAV
VACGERLEETMTMLKSAIIFSIKPLQFHIFAEDQLHHSFKGRLDNWSFLQTFNYTLYPIT
FPSENAAEWKKLFKPCASQRLFLPLILKEVDSLLYVDTDILFLRPVDDIWSLLKKFNSTQ
IAAMAPEHEEPRIGWYNRFARHPYYGKTGVNSGVMLMNMTRMRRKYFKNDMTTVRLQWGD
ILMPLLKKYKLNITWGDQDLLNIVFFHNPESLFVFPCQWNYRPDHCIYGSNCQEAEEGGI
FILH
GNRGVYHDDKQPAFRAVYEALRNCSFEDDNIRSLLKPLELELQKTVHTYCGKIYKI
FIKQLAKSVRDRYARSPKEK
Sequence length 440
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Other types of O-glycan biosynthesis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
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
Colorectal Neoplasms Colorectal neoplasm Pubtator 35459861 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 37347142 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 38042639 Associate
★☆☆☆☆
Found in Text Mining only