UXS1 - UDP-glucuronate decarboxylase 1 Gene

Also Known as UGD; hUXS; hUXS1; SDR6E1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80146

About UXS1

Cytogenetic location: 2q12.2 Genomic coordinates (GRCh38): 2:106,093,311-106,194,301 (from NCBI)

This gene has 15 transcripts (splice variants), 210 orthologues and 10 paralogues. Ubiquitous expression in kidney (RPKM 16.4), placenta (RPKM 15.1) and 25 other tissues.

Summary

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]

UXS1 Products (9)

mRNA Protein Name
NM_001253875.2 NP_001240804.1 UDP-glucuronic acid decarboxylase 1 isoform 1
NM_001253876.2 NP_001240805.1 UDP-glucuronic acid decarboxylase 1 isoform 3
NM_001377504.1 NP_001364433.1 UDP-glucuronic acid decarboxylase 1 isoform 4
NM_001377505.1 NP_001364434.1 UDP-glucuronic acid decarboxylase 1 isoform 5
NM_001377506.1 NP_001364435.1 UDP-glucuronic acid decarboxylase 1 isoform 6
NM_001377507.1 NP_001364436.1 UDP-glucuronic acid decarboxylase 1 isoform 7
NM_001377508.1 NP_001364437.1 UDP-glucuronic acid decarboxylase 1 isoform 8
NM_001377509.1 NP_001364438.1 UDP-glucuronic acid decarboxylase 1 isoform 9
NM_025076.5 NP_079352.2 UDP-glucuronic acid decarboxylase 1 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables NAD+ binding IDA
IDA: Inferred from direct assay
22810237 GOA
enables UDP-glucuronate decarboxylase activity IDA
IDA: Inferred from direct assay
22810237 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
23656592 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
23656592 GOA
Biological Process GO Annotation Evidence References Source
involved in UDP-D-xylose biosynthetic process IDA
IDA: Inferred from direct assay
22810237 GOA
Cellular Component GO Annotation Evidence References Source
part of catalytic complex IDA
IDA: Inferred from direct assay
23656592 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UXS1 Protein Structure

UXS1_N

UXS1_N: UDP-glucuronate decarboxylase N-terminal (1 - 78)

Epimerase

Epimerase: NAD dependent epimerase/dehydratase family (91 - 324)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 420 a.a.
Protein Preferred Names Protein Names

UDP-glucuronic acid decarboxylase 1

  • UXS-1

Related Diseases

Diseases Alias
Fungal Meningitis

  • Meningitis, Fungal

  • Mycotic Meningitis
Cryptococcal Meningitis

  • Meningitis, Cryptococcal

  • Meningitis Cryptococcal
Cryptococcosis

  • Cryptococcus Neoformans Infection

  • Torulosis

  • Busse-Buschke'S Disease

  • Cryptococcal Infection

  • European Cryptococcosis

  • Torula

  • Infection By Cryptococcus Neoformans

  • Cryptococcosis Infection

  • European Blastomycosis

  • European Blastomycotic Infection

  • European Blastomycoses Infection

  • Torula Histolytica Infection
Hemophagocytic Lymphohistiocytosis, Familial, 1

  • Familial Hemophagocytic Lymphohistiocytosis

  • Fhl

  • Familial Erythrophagocytic Lymphohistiocytosis

  • Hemophagocytic Syndrome

  • FHL1

  • Hplh1

  • Hlh1

  • Fel

  • Familial Hemophagocytic Lymphohistiocytosis 1

  • Primary Hemophagocytic Lymphohistiocytosis

  • Familial Hlh

  • Hlh

  • Familial Hemophagocytic Lymphocytosis

  • Hemophagocytic Lymphohistiocytosis, Familial

  • Reticulosis, Familial Histiocytic

  • Hemophagocytic Reticulosis, Familial

  • Erythrophagocytic Lymphohistiocytosis, Familial

  • Familial Histiocytic Reticulosis

  • Familial Hemophagocytic Histiocytosis

  • Familial Hemophagocytic Reticulosis

  • Fhlh

  • Hplh

  • Primary Hemophagocytic Hymphohistiocytosis

  • Genetic Hemophagocytic Lymphohistiocytosis

  • Hemophagocytic Lymphohistiocytosis

  • Familial Hemophagocytic Lymphohistiocytosis Type 1
Hemophagocytic Lymphohistiocytosis, Familial, 2

  • Familial Hemophagocytic Lymphohistiocytosis 2

  • FHL2

  • Hplh2

  • Hlh2

  • Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

  • Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15590 UXS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21455 Uxs1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27973 Uxs1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus UXS1 VGNC VGNC:36753
Mus musculus UXS1 MGD MGI:1915133
Rattus norvegicus UXS1 RGD RGD:628680
Felis catus UXS1 VGNC VGNC:83478
Macaca mulatta UXS1 VGNC VGNC:79083
Canis familiaris UXS1 VGNC VGNC:48220