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 pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by ... See more...

Aliases for UXS1 Gene

Aliases for UXS1 Gene

  • UDP-Glucuronate Decarboxylase 1 2 3 4 5
  • Short Chain Dehydrogenase/Reductase Family 6E, Member 12 2 3
  • UDP-Glucuronic Acid Decarboxylase 1 3 4
  • EC 4.1.1.35 4 52
  • UXS-1 3 4
  • UGD 3 4
  • SDR6E1 3

External Ids for UXS1 Gene

Previous GeneCards Identifiers for UXS1 Gene

  • GC02M104573
  • GC02M105162
  • GC02M106314
  • GC02M106331
  • GC02M106168
  • GC02M106709
  • GC02M100479

Summaries for UXS1 Gene

Entrez Gene Summary for UXS1 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 pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

GeneCards Summary for UXS1 Gene

UXS1 (UDP-Glucuronate Decarboxylase 1) is a Protein Coding gene. Diseases associated with UXS1 include Schneckenbecken Dysplasia and Walker-Warburg Syndrome. Among its related pathways are Amino sugar and nucleotide sugar metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and coenzyme binding. An important paralog of this gene is GMDS.

UniProtKB/Swiss-Prot Summary for UXS1 Gene

  • Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis.

Gene Wiki entry for UXS1 Gene

Additional gene information for UXS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UXS1 Gene

Genomics for UXS1 Gene

GeneHancer (GH) Regulatory Elements for UXS1 Gene

Promoters and enhancers for UXS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J106192 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 508.5 -0.1 -116 4.1 HNRNPK EP300 SIN3A NRF1 POLR2G PHF8 FOS ZFX POLR2A ZBTB26 UXS1 lnc-C2orf40-16 ENSG00000224061
GH02J106158 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 19.4 +33.6 33594 5.2 ZNF217 USF1 CUX1 GATAD2B CTBP1 SIN3A ESRRA NFIC ZNF592 CEBPG UXS1 ECRG4 ENSG00000224061 lnc-RGPD3-5 piR-55361-316
GH02J106147 Enhancer 0.8 Ensembl ENCODE dbSUPER 18.3 +46.4 46438 2.2 MAFK ESR1 NFIC NFE2L2 FOS NCOA3 RUNX3 UXS1 piR-55361-316 lnc-RGPD3-5
GH02J106092 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +99.1 99108 5 FOXP2 BCL3 SPI1 CTCF ECRG4 UXS1 NCK2 lnc-RGPD3-8 lnc-C2orf40-9
GH02J106123 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.2 +68.0 68046 4.8 EP300 POLR2G NCOR1 KDM6A SKI TEAD1 ZKSCAN8 KMT2B FOXA2 TBP UXS1 ECRG4 ENSG00000224061 MG828668-056 NONHSAG028831.2 lnc-C2orf40-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UXS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UXS1

Top Transcription factor binding sites by QIAGEN in the UXS1 gene promoter:
  • COMP1
  • deltaCREB
  • Evi-1
  • FOXD3
  • GATA-1
  • LCR-F1
  • NF-1
  • NF-E2
  • NF-E2 p45
  • Sp1

Genomic Locations for UXS1 Gene

Genomic Locations for UXS1 Gene
chr2:106,093,303-106,194,339
(GRCh38/hg38)
Size:
101,037 bases
Orientation:
Minus strand
chr2:106,709,759-106,810,795
(GRCh37/hg19)
Size:
101,037 bases
Orientation:
Minus strand

Genomic View for UXS1 Gene

Genes around UXS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UXS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UXS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UXS1 Gene

Proteins for UXS1 Gene

  • Protein details for UXS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBZ7-UXS1_HUMAN
    Recommended name:
    UDP-glucuronic acid decarboxylase 1
    Protein Accession:
    Q8NBZ7
    Secondary Accessions:
    • Q8NBX3
    • Q9H5C2

    Protein attributes for UXS1 Gene

    Size:
    420 amino acids
    Molecular mass:
    47577 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    • Interacts with AKT1.

    Three dimensional structures from OCA and Proteopedia for UXS1 Gene

    Alternative splice isoforms for UXS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UXS1 Gene

Selected DME Specific Peptides for UXS1 Gene

Q8NBZ7:
  • EAQDDPQ
  • QANNQYIPKPK
  • RMHMNDGRVVSNFILQALQGE
  • SSPVNLGNPEEHTILEFAQLIK
  • LGWEPVVPLEEGLNK
  • IHYFRKELE
  • QTRAFQYVSDLVNGLVALMNSNVSSPVNLGNP
  • SFTQKYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMM

Post-translational modifications for UXS1 Gene

  • Glycosylation at Asn316
  • Modification sites at PhosphoSitePlus

Domains & Families for UXS1 Gene

Gene Families for UXS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UXS1 Gene

Blocks:
  • NAD-dependent epimerase/dehydratase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UXS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16164 fis, clone BRCAN2027150, highly similar to UDP-glucuronic acid decarboxylase 1 (EC 4.1.1.35) (B3KV61_HUMAN)
  • cDNA FLJ57788, highly similar to UDP-glucuronic acid decarboxylase 1 (EC 4.1.1.35) (B4E3U7_HUMAN)
  • UDP-glucuronate decarboxylase 1 (UXS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBZ7

UniProtKB/Swiss-Prot:

UXS1_HUMAN :
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family. UDP-glucuronic acid decarboxylase subfamily.
Family:
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family. UDP-glucuronic acid decarboxylase subfamily.
genes like me logo Genes that share domains with UXS1: view

Function for UXS1 Gene

Molecular function for UXS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + UDP-alpha-D-glucuronate = CO2 + UDP-alpha-D-xylose; Xref=Rhea:RHEA:23916, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57632, ChEBI:CHEBI:58052; EC=4.1.1.35;.

Enzyme Numbers (IUBMB) for UXS1 Gene

Phenotypes From GWAS Catalog for UXS1 Gene

Gene Ontology (GO) - Molecular Function for UXS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
GO:0042803 protein homodimerization activity IDA 23656592
GO:0048040 UDP-glucuronate decarboxylase activity IEA,IDA 23072385
GO:0050662 coenzyme binding IEA --
genes like me logo Genes that share ontologies with UXS1: view
genes like me logo Genes that share phenotypes with UXS1: view

Animal Models for UXS1 Gene

MGI Knock Outs for UXS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for UXS1

CRISPR Products

Clone Products

  • Addgene plasmids for UXS1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UXS1 Gene

Localization for UXS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UXS1 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UXS1 gene
Compartment Confidence
golgi apparatus 4
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for UXS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with UXS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UXS1 Gene

Pathways & Interactions for UXS1 Gene

genes like me logo Genes that share pathways with UXS1: view

Pathways by source for UXS1 Gene

UniProtKB/Swiss-Prot Q8NBZ7-UXS1_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; UDP-alpha-D-xylose biosynthesis; UDP-alpha-D-xylose from UDP-alpha-D-glucuronate: step 1/1.

Gene Ontology (GO) - Biological Process for UXS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033320 UDP-D-xylose biosynthetic process IEA --
GO:0051262 protein tetramerization IDA 23656592
genes like me logo Genes that share ontologies with UXS1: view

No data available for SIGNOR curated interactions for UXS1 Gene

Drugs & Compounds for UXS1 Gene

(5) Drugs for UXS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
NADH Approved Nutra 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0
UDP-alpha-D-glucuronic acid Experimental Pharma 0
UDP-D-Xylose Experimental Pharma 0
genes like me logo Genes that share compounds with UXS1: view

Transcripts for UXS1 Gene

mRNA/cDNA for UXS1 Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for UXS1

Alternative Splicing Database (ASD) splice patterns (SP) for UXS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1: - - - -
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for UXS1 Gene

GeneLoc Exon Structure for
UXS1

Expression for UXS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UXS1 Gene

Protein differential expression in normal tissues from HIPED for UXS1 Gene

This gene is overexpressed in Pancreas (25.2), Lung (11.4), Fetal ovary (8.9), and Testis (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UXS1 Gene



Protein tissue co-expression partners for UXS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UXS1

SOURCE GeneReport for Unigene cluster for UXS1 Gene:

Hs.743389

Evidence on tissue expression from TISSUES for UXS1 Gene

  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with UXS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UXS1 Gene

Orthologs for UXS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UXS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UXS1 31 30
  • 99.44 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UXS1 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UXS1 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UXS1 31 30
  • 90.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Uxs1 17 31 30
  • 89.13 (n)
rat
(Rattus norvegicus)
Mammalia Uxs1 30
  • 89.13 (n)
cow
(Bos Taurus)
Mammalia UXS1 31 30
  • 88.41 (n)
OneToOne
chicken
(Gallus gallus)
Aves UXS1 31 30
  • 83.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UXS1 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uxs1 30
  • 77.91 (n)
Str.8401 30
zebrafish
(Danio rerio)
Actinopterygii uxs1 31 30 30
  • 77.1 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004268 30
  • 64.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7979 31 32 30
  • 62.46 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sqv-1 31 30
  • 62.02 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 31
  • 10 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons UXS5 30
  • 62.7 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.729 30
soybean
(Glycine max)
eudicotyledons Gma.6843 30
rice
(Oryza sativa)
Liliopsida Os03g0278000 30
  • 59.53 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.942 30
corn
(Zea mays)
Liliopsida Zm.730 30
wheat
(Triticum aestivum)
Liliopsida Ta.23697 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 66 (a)
OneToOne
Cin.10399 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10399 30
Species where no ortholog for UXS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UXS1 Gene

ENSEMBL:
Gene Tree for UXS1 (if available)
TreeFam:
Gene Tree for UXS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UXS1: view image

Paralogs for UXS1 Gene

Paralogs for UXS1 Gene

(1) SIMAP similar genes for UXS1 Gene using alignment to 8 proteins:

  • UXS1_HUMAN
  • B3KV61_HUMAN
  • B4E3U7_HUMAN
  • C9J3T9_HUMAN
  • C9JCB7_HUMAN
  • C9JE50_HUMAN
  • C9JFU6_HUMAN
  • C9JW33_HUMAN
genes like me logo Genes that share paralogs with UXS1: view

Variants for UXS1 Gene

Additional dbSNP identifiers (rs#s) for UXS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for UXS1 Gene

Variant ID Type Subtype PubMed ID
nsv524810 CNV loss 19592680

Variation tolerance for UXS1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UXS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UXS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UXS1 Gene

Disorders for UXS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UXS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
schneckenbecken dysplasia
  • shnknd
walker-warburg syndrome
  • hydrocephalus, agyria, and retinal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search UXS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UXS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UXS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UXS1 Gene

Publications for UXS1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 54
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54

Products for UXS1 Gene

  • Signalway ELISA kits for UXS1
  • Signalway Proteins for UXS1

Sources for UXS1 Gene