UXS1 - UDP-glucuronate decarboxylase 1 Gene

Homo sapiens

Also known as UGD; hUXS; hUXS1; SDR6E1

Gene ID: 80146 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in UDP-D-xylose biosynthetic process	IDA IDA: Inferred from direct assay	22810237	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Epimerase

0
100
200
300
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15590	UXS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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