• Gene id: 283464

Gene Summary

• Gene Symbol: GXYLT1   Gene   UCSC   Ensembl
• Aliases: GLT8D3
• Gene name: glucoside xylosyltransferase 1
• Alternate names: glucoside xylosyltransferase 1, glycosyltransferase 8 domain containing 3, glycosyltransferase 8 domain-containing protein 3,
• Gene location: 12q12 (42144873: 42081844)     Exons: 27     NC_000012.12
• Gene summary(Entrez): GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM
• OMIM: 613321

Protein Summary

• Protein general information: Q4G148  
  • Name: Glucoside xylosyltransferase 1 (EC 2.4.2.42) (Glycosyltransferase 8 domain containing protein 3)
  • Length: 440  
  • Mass: 50567
• Sequence:

  MRRYLRVVVLCVACGFCSLLYAFSQLAVSLEEGTGGGGGKPQAAVASWLAGGGRGAVRGAGVAGPAAHPGVSDRC
  KDFSLCYWNPYWMLPSDVCGMNCFWEAAFRYSLKIQPVEKMHLAVVACGERLEETMTMLKSAIIFSIKPLQFHIF
  AEDQLHHSFKGRLDNWSFLQTFNYTLYPITFPSENAAEWKKLFKPCASQRLFLPLILKEVDSLLYVDTDILFLRP
  VDDIWSLLKKFNSTQIAAMAPEHEEPRIGWYNRFARHPYYGKTGVNSGVMLMNMTRMRRKYFKNDMTTVRLQWGD
  ILMPLLKKYKLNITWGDQDLLNIVFFHNPESLFVFPCQWNYRPDHCIYGSNCQEAEEGGIFILHGNRGVYHDDKQ
  PAFRAVYEALRNCSFEDDNIRSLLKPLELELQKTVHTYCGKIYKIFIKQLAKSVRDRYARSPKEK

• Structural information:
  • Interpro: IPR002495  IPR029044  
  • STRING: ENSP00000381666
• Other Databases: GeneCards:  GXYLT1  Malacards:  GXYLT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016266	O-glycan processing	IBA	biological process
GO:0035252	UDP-xylosyltransferase activity	IBA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0035252	UDP-xylosyltransferase activity	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0035252	UDP-xylosyltransferase activity	IDA	molecular function
GO:0016266	O-glycan processing	IDA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
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)