• Gene id: 152002

Gene Summary

• Gene Symbol: XXYLT1   Gene   UCSC   Ensembl
• Aliases: C3orf21
• Gene name: xyloside xylosyltransferase 1
• Alternate names: xyloside xylosyltransferase 1, UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase,
• Gene location: 3q29 (195271158: 195066969)     Exons: 11     NC_000003.12
• OMIM: 614788

Protein Summary

• Protein general information: Q8NBI6  
  • Name: Xyloside xylosyltransferase 1 (EC 2.4.2.n3) (UDP xylose:alpha xyloside alpha 1,3 xylosyltransferase)
  • Length: 393  
  • Mass: 43807
• Sequence:

  MGLLRGGLPCARAMARLGAVRSHYCALLLAAALAVCAFYYLGSGRETFSSATKRLKEARAGAPAAPSPPALELAR
  GSVAPAPGAKAKSLEGGGAGPVDYHLLMMFTKAEHNAALQAKARVALRSLLRLAKFEAHEVLNLHFVSEEASREV
  AKGLLRELLPPAAGFKCKVIFHDVAVLTDKLFPIVEAMQKHFSAGLGTYYSDSIFFLSVAMHQIMPKEILQIIQL
  DLDLKFKTNIRELFEEFDSFLPGAIIGIAREMQPVYRHTFWQFRHENPQTRVGGPPPEGLPGFNSGVMLLNLEAM
  RQSPLYSRLLEPAQVQQLADKYHFRGHLGDQDFFTMIGMEHPKLFHVLDCTWNRQLCTWWRDHGYSDVFEAYFRC
  EGHVKIYHGNCNTPIPED

• Structural information:
  • Interpro: IPR002495  IPR029044  IPR042465  
  • STRING: ENSP00000309640
• Other Databases: GeneCards:  XXYLT1  Malacards:  XXYLT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0016266	O-glycan processing	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0016266	O-glycan processing	IDA	biological process
GO:0035252	UDP-xylosyltransferase activity	IDA	molecular function
GO:0035252	UDP-xylosyltransferase activity	IDA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0035252	UDP-xylosyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0035252	UDP-xylosyltransferase activity	IDA	molecular function
GO:0030145	manganese ion binding	IEA	molecular function
GO:0016266	O-glycan processing	IEA	biological process
GO:0035252	UDP-xylosyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00514	Other types of O-glycan biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq