Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80146
Gene name Gene Name - the full gene name approved by the HGNC.
UDP-glucuronate decarboxylase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UXS1
Synonyms (NCBI Gene) Gene synonyms aliases
SDR6E1, UGD, hUXS, hUXS1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathw
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019956 hsa-miR-375 Microarray 20215506
MIRT439318 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT439319 hsa-miR-20a-5p HITS-CLIP 22473208
MIRT439318 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT726154 hsa-miR-17-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005737 Component Cytoplasm IBA
GO:0005794 Component Golgi apparatus IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609749 17729 ENSG00000115652
Protein
UniProt ID Q8NBZ7
Protein name UDP-glucuronic acid decarboxylase 1 (EC 4.1.1.35) (UDP-glucuronate decarboxylase 1) (UGD) (UXS-1) (hUXS) (hUXS1)
Protein function Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose (PubMed:22810237, PubMed:23656592, PubMed:25521717). Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis (PubMed:22810237,
PDB 2B69 , 4GLL , 4LK3 , 4M55
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11803 UXS1_N 4 78 UDP-glucuronate decarboxylase N-terminal Family
PF16363 GDP_Man_Dehyd 92 387 GDP-mannose 4,6 dehydratase Domain
Sequence
Sequence length 420
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of nucleotide sugars
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Skeletal Dysplasia skeletal dysplasia N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 37880368