• Gene id: 64131

Gene Summary

• Gene Symbol: XYLT1   Gene   UCSC   Ensembl
• Aliases: DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I
• Gene name: xylosyltransferase 1
• Alternate names: xylosyltransferase 1, beta-D-xylosyltransferase 1, peptide O-xylosyltransferase 1, xylosyltransferase I, xylosyltransferase iota,
• Gene location: 16p12.3 (17470959: 17101768)     Exons: 14     NC_000016.10
• Gene summary(Entrez): This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this g
• OMIM: 608124

Protein Summary

• Protein general information: Q86Y38  
  • Name: Xylosyltransferase 1 (EC 2.4.2.26) (Peptide O xylosyltransferase 1) (Xylosyltransferase I) (XT I) (XylT I)
  • Length: 959  
  • Mass: 107569
  • Tissue specificity: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle. {ECO
• Sequence:

  MVAAPCARRLARRSHSALLAALTVLLLQTLVVWNFSSLDSGAGERRGGAAVGGGEQPPPAPAPRRERRDLPAEPA
  AARGGGGGGGGGGGGRGPQARARGGGPGEPRGQQPASRGALPARALDPHPSPLITLETQDGYFSHRPKEKVRTDS
  NNENSVPKDFENVDNSNFAPRTQKQKHQPELAKKPPSRQKELLKRKLEQQEKGKGHTFPGKGPGEVLPPGDRAAA
  NSSHGKDVSRPPHARKTGGSSPETKYDQPPKCDISGKEAISALSRAKSKHCRQEIGETYCRHKLGLLMPEKVTRF
  CPLEGKANKNVQWDEDSVEYMPANPVRIAFVLVVHGRASRQLQRMFKAIYHKDHFYYIHVDKRSNYLHRQVLQVS
  RQYSNVRVTPWRMATIWGGASLLSTYLQSMRDLLEMTDWPWDFFINLSAADYPIRTNDQLVAFLSRYRDMNFLKS
  HGRDNARFIRKQGLDRLFLECDAHMWRLGDRRIPEGIAVDGGSDWFLLNRRFVEYVTFSTDDLVTKMKQFYSYTL
  LPAESFFHTVLENSPHCDTMVDNNLRITNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFHRFQQTARPTFFARKF
  EAVVNQEIIGQLDYYLYGNYPAGTPGLRSYWENVYDEPDGIHSLSDVTLTLYHSFARLGLRRAETSLHTDGENSC
  RYYPMGHPASVHLYFLADRFQGFLIKHHATNLAVSKLETLETWVMPKKVFKIASPPSDFGRLQFSEVGTDWDAKE
  RLFRNFGGLLGPMDEPVGMQKWGKGPNVTVTVIWVDPVNVIAATYDILIESTAEFTHYKPPLNLPLRPGVWTVKI
  LHHWVPVAETKFLVAPLTFSNRQPIKPEEALKLHNGPLRNAYMEQSFQSLNPVLSLPINPAQVEQARRNAASTGT
  ALEGWLDSLVGGMWTAMDICATGPTACPVMQTCSQTAWSSFSPDPKSELGAVKPDGRLR

• Structural information:
  • Interpro: IPR003406  IPR039864  IPR024448  
  • PDB: 6EJ7 6EJ8 6EJ9 6EJA 6EJB 6EJC 6EJD 6EJE 6FOA
  • PDBsum: 6EJ7 6EJ8 6EJ9 6EJA 6EJB 6EJC 6EJD 6EJE 6FOA
  • STRING: ENSP00000261381
• Other Databases: GeneCards:  XYLT1  Malacards:  XYLT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IBA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IBA	biological process
GO:0030158	protein xylosyltransferase activity	IBA	molecular function
GO:0000139	Golgi membrane	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0030166	proteoglycan biosynthetic process	IDA	biological process
GO:0030158	protein xylosyltransferase activity	IDA	molecular function
GO:0030158	protein xylosyltransferase activity	IDA	molecular function
GO:0030158	protein xylosyltransferase activity	IDA	molecular function
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0048706	embryonic skeletal system development	ISS	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0000137	Golgi cis cisterna	ISS	cellular component
GO:0043931	ossification involved in bone maturation	ISS	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030158	protein xylosyltransferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0030158	protein xylosyltransferase activity	IEA	molecular function
GO:0030203	glycosaminoglycan metabolic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0030206	chondroitin sulfate biosynthetic process	IEA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0030158	protein xylosyltransferase activity	TAS	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
Pseudoxanthoma elasticum	KEGG:H00560
Desbuquois syndrome	KEGG:H00494
Pseudoxanthoma elasticum	KEGG:H00560
Desbuquois syndrome	KEGG:H00494
type 1 diabetes mellitus	PMID:16759312
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq