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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
  • EC 4.1.1.35 4 61
  • UXS-1 3 4
  • UGD 3 4
  • UDP-Glucuronic Acid Decarboxylase 1 3
  • SDR6E1 3

External Ids for UXS1 Gene

Previous GeneCards Identifiers for UXS1 Gene

  • GC02M104573
  • GC02M105162
  • GC02M106314
  • GC02M106331
  • 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. Among its related pathways are Amino sugar and nucleotide sugar metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and coenzyme binding. An important paralog of this gene is TGDS.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UXS1 Gene

Genomics for UXS1 Gene

Regulatory Elements for UXS1 Gene

Enhancers for UXS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G106158 1.3 Ensembl ENCODE dbSUPER 19.3 +33.6 33594 5.2 ESRRA JUN SIN3A MAX CEBPG RAD21 FOSL1 CTBP1 GATA3 POLR2A UXS1 C2orf40 LOC100131114 ENSG00000233339 GC02P106110
GH02G106092 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +99.1 99109 5.0 FOXP2 EP300 C2orf40 UXS1 NCK2 GC02P106110
GH02G106123 1.1 ENCODE dbSUPER 11.2 +68.0 68046 4.8 HNRNPUL1 TBP PKNOX1 FOXA2 ATF1 DMAP1 RARA FOS CREM MIXL1 UXS1 C2orf40 LOC100131114 GC02P106110 ENSG00000233339
GH02G106106 1 ENCODE dbSUPER 11.7 +87.1 87094 1.5 CTCF EBF1 PLRG1 RELA TCF12 EED SCRT2 FOS RELB IKZF2 C2orf49 UXS1 C2orf40 GC02P106110
GH02G106192 1.3 FANTOM5 ENCODE 8.6 -0.2 -159 4.0 HDGF HNRNPUL1 FOXA2 ARID4B SIN3A YY1 ZNF143 FOS KLF13 SP3 UXS1 LOC100131114 ENSG00000273595
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UXS1 on UCSC Golden Path with GeneCards custom track

Promoters for UXS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000121275 139 2001 HDGF HNRNPUL1 ARID4B SIN3A ZNF48 YY1 ZNF121 ZNF143 SP3 SP5

Genomic Location for UXS1 Gene

Chromosome:
2
Start:
106,093,303 bp from pter
End:
106,194,339 bp from pter
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 isoforms=2, 3316
  • Modification sites at PhosphoSitePlus

Domains & Families for UXS1 Gene

Gene Families for UXS1 Gene

Protein Domains for UXS1 Gene

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 CatalyticActivity:
UDP-D-glucuronate = UDP-D-xylose + CO(2).
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.

Enzyme Numbers (IUBMB) 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 IDA,IEA 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UXS1
  • Applied Biological Materials Clones 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
extracellular 5
golgi apparatus 5
mitochondrion 3
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for UXS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UXS1: view

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

(4) Drugs for UXS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
UDP-alpha-D-glucuronic acid Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(1) Additional Compounds for UXS1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
UDP-D-Xylose
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-D-Xylose
3616-06-6
genes like me logo Genes that share compounds with UXS1: view

Transcripts for UXS1 Gene

Unigene Clusters for UXS1 Gene

UDP-glucuronate decarboxylase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UXS1
  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
UXS1

Expression for UXS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for UXS1 Gene



Protein tissue co-expression partners for UXS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UXS1 Gene:

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

Primer Products

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 34 35
  • 99.44 (n)
oppossum
(Monodelphis domestica)
Mammalia UXS1 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UXS1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UXS1 34 35
  • 90.71 (n)
mouse
(Mus musculus)
Mammalia Uxs1 34 16 35
  • 89.13 (n)
rat
(Rattus norvegicus)
Mammalia Uxs1 34
  • 89.13 (n)
cow
(Bos Taurus)
Mammalia UXS1 34 35
  • 88.41 (n)
chicken
(Gallus gallus)
Aves UXS1 34 35
  • 83.25 (n)
lizard
(Anolis carolinensis)
Reptilia UXS1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uxs1 34
  • 77.91 (n)
Str.8401 34
zebrafish
(Danio rerio)
Actinopterygii uxs1 34 35
  • 77.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004268 34
  • 64.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7979 36 34 35
  • 62.46 (n)
worm
(Caenorhabditis elegans)
Secernentea sqv-1 34 35
  • 62.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 35
  • 10 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons UXS5 34
  • 62.7 (n)
soybean
(Glycine max)
eudicotyledons Gma.6843 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.729 34
rice
(Oryza sativa)
Liliopsida Os03g0278000 34
  • 59.53 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.942 34
wheat
(Triticum aestivum)
Liliopsida Ta.23697 34
corn
(Zea mays)
Liliopsida Zm.730 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10399 34
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)

Paralogs for UXS1 Gene

Paralogs for UXS1 Gene

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

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

Variants for UXS1 Gene

Sequence variations from dbSNP and Humsavar for UXS1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000132611 -- 106,187,855(+) CCTGC(C/T)TCAGC intron-variant
rs1000135890 -- 106,115,367(+) TGTTC(C/T)GCCTG intron-variant
rs1000153509 -- 106,156,421(+) GAACA(C/T)TCATA intron-variant
rs1000185493 -- 106,115,573(+) TGAGC(C/T)GCACC intron-variant
rs1000195677 -- 106,149,043(+) ATGTA(C/T)TTCAA intron-variant

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)

Relevant External Links for UXS1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UXS1 Gene

Disorders for UXS1 Gene

Relevant External Links for UXS1

Genetic Association Database (GAD)
UXS1
Human Genome Epidemiology (HuGE) Navigator
UXS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UXS1

No disorders were found for UXS1 Gene.

No data available for MalaCards , 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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64

Products for UXS1 Gene

  • Addgene plasmids for UXS1

Sources for UXS1 Gene

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