• Gene id: 80146

Gene Summary

• Gene Symbol: UXS1   Gene   UCSC   Ensembl
• Aliases: SDR6E1, UGD
• Gene name: UDP-glucuronate decarboxylase 1
• Alternate names: UDP-glucuronic acid decarboxylase 1, UXS-1, short chain dehydrogenase/reductase family 6E, member 12,
• Gene location: 2q12.2 (106194335: 106093302)     Exons: 19     NC_000002.12
• Gene summary(Entrez): 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 pathw
• OMIM: 609749

Protein Summary

• Protein general information: Q8NBZ7  
  • Name: UDP glucuronic acid decarboxylase 1 (EC 4.1.1.35) (UDP glucuronate decarboxylase 1) (UGD) (UXS 1)
  • Length: 420  
  • Mass: 47577
• Sequence:

  MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQ
  KYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLY
  IEVDQIYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGARLLLASTSEVYGDPEVHPQSEDYWGHVNPI
  GPRACYDEGKRVAETMCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQ
  YVSDLVNGLVALMNSNVSSPVNLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWE
  PVVPLEEGLNKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS

• Structural information:
  • Interpro: IPR016040  IPR036291  IPR021761  
  • PDB: 2B69 4GLL 4LK3 4M55
  • PDBsum: 2B69 4GLL 4LK3 4M55
  • STRING: ENSP00000283148
• Other Databases: GeneCards:  UXS1  Malacards:  UXS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048040	UDP-glucuronate decarboxylase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0070403	NAD+ binding	IBA	molecular function
GO:0048040	UDP-glucuronate decarboxylase activity	IEA	molecular function
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0048040	UDP-glucuronate decarboxylase activity	IEA	molecular function
GO:0048040	UDP-glucuronate decarboxylase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0033320	UDP-D-xylose biosynthetic process	IEA	biological process
GO:0070403	NAD+ binding	IDA	molecular function
GO:0048040	UDP-glucuronate decarboxylase activity	IDA	molecular function
GO:0048040	UDP-glucuronate decarboxylase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:1902494	catalytic complex	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq