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Aliases for UXS1 Gene

Aliases for UXS1 Gene

  • UDP-Glucuronate Decarboxylase 1 2 3 4 5
  • EC 4.1.1.35 4 63
  • UXS-1 3 4
  • UGD 3 4
  • Short Chain Dehydrogenase/Reductase Family 6E, Member 12 3
  • Short Chain Dehydrogenase/Reductase Family 6E 2
  • Member 12 2
  • 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 Metabolism and Porphyrin and chlorophyll 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UXS1 Gene

Genomics for UXS1 Gene

Regulatory Elements for UXS1 Gene

Promoters for UXS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UXS1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for UXS1 Gene at MOPED

Post-translational modifications for UXS1 Gene

  • Glycosylation at Asn 316
  • Modification sites at PhosphoSitePlus

Antibody Products

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for UXS1 Gene COMPARTMENTS Subcellular localization image for UXS1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
mitochondrion 3
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for UXS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032580 Golgi cisterna 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

None

No data available for SIGNOR curated interactions for UXS1 Gene

Drugs & Compounds for UXS1 Gene

(2) Drugs for UXS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
UDP-D-Xylose
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-D-Xylose
3616-06-6
Uridine diphosphate glucuronic acid
  • a-D-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • a-D-Glucopyranuronic acid ester with uridine 5'-pyrophosphate
  • alpha-D-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
  • alpha-delta-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • alpha-delta-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
2616-64-0
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:

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 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, MOPED, and MaxQB for UXS1 Gene



SOURCE GeneReport for Unigene cluster for UXS1 Gene Hs.743389

genes like me logo Genes that share expression patterns with UXS1: view

Protein tissue co-expression partners for UXS1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 36
  • 100 (a)
OneToOne
UXS1 35
  • 99.44 (n)
  • 99.76 (a)
cow
(Bos Taurus)
Mammalia UXS1 36
  • 97 (a)
OneToOne
UXS1 35
  • 88.41 (n)
  • 96.67 (a)
dog
(Canis familiaris)
Mammalia UXS1 35
  • 90.71 (n)
  • 97.95 (a)
UXS1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uxs1 16
Uxs1 36
  • 99 (a)
OneToOne
Uxs1 35
  • 89.13 (n)
  • 98.57 (a)
oppossum
(Monodelphis domestica)
Mammalia UXS1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UXS1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uxs1 35
  • 89.13 (n)
  • 97.14 (a)
chicken
(Gallus gallus)
Aves UXS1 36
  • 94 (a)
OneToOne
UXS1 35
  • 83.25 (n)
  • 94.52 (a)
lizard
(Anolis carolinensis)
Reptilia UXS1 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8401 35
uxs1 35
  • 77.91 (n)
  • 90.02 (a)
zebrafish
(Danio rerio)
Actinopterygii uxs1 35
  • 77.1 (n)
  • 88.11 (a)
uxs1 36
  • 88 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004268 35
  • 64.35 (n)
  • 70.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7979 37
  • 67 (a)
CG7979 36
  • 57 (a)
OneToOne
CG7979 35
  • 62.46 (n)
  • 71.15 (a)
worm
(Caenorhabditis elegans)
Secernentea sqv-1 36
  • 51 (a)
OneToOne
sqv-1 35
  • 62.02 (n)
  • 67.73 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 36
  • 10 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.729 35
soybean
(Glycine max)
eudicotyledons Gma.6843 35
thale cress
(Arabidopsis thaliana)
eudicotyledons UXS5 35
  • 62.7 (n)
  • 63.99 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.942 35
corn
(Zea mays)
Liliopsida Zm.730 35
rice
(Oryza sativa)
Liliopsida Os03g0278000 35
  • 59.53 (n)
  • 63.26 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.23697 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10399 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToOne
Species with no ortholog for UXS1:
  • 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
rs1991 -- 106,094,084(-) TAATC(A/G)GTACA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs716373 -- 106,179,030(+) TCATG(C/T)TACCT intron-variant
rs745099 -- 106,117,098(+) ctggt(C/T)tcctc intron-variant
rs894392 -- 106,173,204(-) CAGCA(A/G)ATATT intron-variant
rs1020249 -- 106,169,084(-) GTTCA(C/T)CAGGT 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

HapMap Linkage Disequilibrium report
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 48 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Man o' war mutation in UDP-I+-D-xylose synthase favors the abortive catalytic cycle and uncovers a latent potential for hexamer formation. (PMID: 25521717) Walsh R.M. … Wood Z.A. (Biochemistry 2015) 3
  5. Human UDP-I+-d-xylose synthase forms a catalytically important tetramer that has not been observed in crystal structures. (PMID: 23656592) Polizzi S.J. … Wood Z.A. (Biochemistry 2013) 3

Products for UXS1 Gene

Sources for UXS1 Gene

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