Human Gene XYLT1 (ENST00000261381.7_7) from GENCODE V47lift37
  Description: xylosyltransferase 1 (from RefSeq NM_022166.4)
Gencode Transcript: ENST00000261381.7_7
Gencode Gene: ENSG00000103489.12_10
Transcript (Including UTRs)
   Position: hg19 chr16:17,195,626-17,564,817 Size: 369,192 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr16:17,202,552-17,564,653 Size: 362,102 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:17,195,626-17,564,817)mRNA (may differ from genome)Protein (959 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: XYLT1_HUMAN
DESCRIPTION: RecName: Full=Xylosyltransferase 1; EC=2.4.2.26; AltName: Full=Peptide O-xylosyltransferase 1; AltName: Full=Xylosyltransferase I; Short=XT-I; Short=XylT-I;
FUNCTION: Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes.
CATALYTIC ACTIVITY: Transfers a beta-D-xylosyl residue from UDP-D- xylose to the serine hydroxy group of an acceptor protein substrate.
COFACTOR: Divalent cations.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.9 uM for recombinant bikunin; Vmax=764 pmol/h/mg enzyme with recombinant bikunin as substrate;
PATHWAY: Glycan metabolism; chondroitin sulfate biosynthesis.
PATHWAY: Glycan metabolism; heparan sulfate biosynthesis.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Secreted (Probable). Note=Some fraction is also found in the extracellular space together with chondroitin sulfate proteoglycans, suggesting that it can be secreted.
TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle.
PTM: Contains 7 disulfide bonds.
PTM: N-glycosylated.
MISCELLANEOUS: Activity is strongly reduced in seminal plasma of unfertile men.
SIMILARITY: Belongs to the glycosyltransferase 14 family. XylT subfamily.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=XYLT1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: XYLT1
Diseases sorted by gene-association score: desbuquois dysplasia 2* (1329), pseudoxanthoma elasticum* (647), xylt1-cdg* (350), desbuquois dysplasia* (281), eastern equine encephalitis (16), angioid streaks (11), limited scleroderma (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.57 RPKM in Cells - Cultured fibroblasts
Total median expression: 156.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -104.80164-0.639 Picture PostScript Text
3' UTR -2277.606926-0.329 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003406 - Glyco_trans_14
IPR024448 - XylT

Pfam Domains:
PF02485 - Core-2/I-Branching enzyme
PF12529 - Xylosyltransferase C terminal

SCOP Domains:
55785 - PYP-like sensor domain (PAS domain)

ModBase Predicted Comparative 3D Structure on Q86Y38
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008375 acetylglucosaminyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0030158 protein xylosyltransferase activity

Biological Process:
GO:0006024 glycosaminoglycan biosynthetic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030206 chondroitin sulfate biosynthetic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AJ277441 - Homo sapiens partial mRNA for xylosyltransferase I (XT-I gene).
AJ539163 - Homo sapiens mRNA for xylosyltransferase I (XYLT1 gene).
BC156039 - Synthetic construct Homo sapiens clone IMAGE:100062328, MGC:190463 xylosyltransferase I (XYLT1) mRNA, encodes complete protein.
BC045778 - Homo sapiens hypothetical protein LOC283824, mRNA (cDNA clone IMAGE:4791553).
BC036692 - Homo sapiens hypothetical protein LOC283824, mRNA (cDNA clone IMAGE:5262371).
BX647541 - Homo sapiens mRNA; cDNA DKFZp686P0492 (from clone DKFZp686P0492).
AL050125 - Homo sapiens mRNA; cDNA DKFZp586F071 (from clone DKFZp586F071).
JD182248 - Sequence 163272 from Patent EP1572962.
JD553414 - Sequence 534438 from Patent EP1572962.
JD323419 - Sequence 304443 from Patent EP1572962.
JD360989 - Sequence 342013 from Patent EP1572962.
JD347682 - Sequence 328706 from Patent EP1572962.
JD290035 - Sequence 271059 from Patent EP1572962.
JD045258 - Sequence 26282 from Patent EP1572962.
JD114433 - Sequence 95457 from Patent EP1572962.
JD422580 - Sequence 403604 from Patent EP1572962.
JD519742 - Sequence 500766 from Patent EP1572962.
JD094340 - Sequence 75364 from Patent EP1572962.
JD094339 - Sequence 75363 from Patent EP1572962.
JD523910 - Sequence 504934 from Patent EP1572962.
JD375346 - Sequence 356370 from Patent EP1572962.
JD438400 - Sequence 419424 from Patent EP1572962.
JD353623 - Sequence 334647 from Patent EP1572962.
JD237530 - Sequence 218554 from Patent EP1572962.
JD356089 - Sequence 337113 from Patent EP1572962.
JD515347 - Sequence 496371 from Patent EP1572962.
JD419746 - Sequence 400770 from Patent EP1572962.
DQ585789 - Homo sapiens piRNA piR-52901, complete sequence.
JD367752 - Sequence 348776 from Patent EP1572962.
JD316241 - Sequence 297265 from Patent EP1572962.
JD208148 - Sequence 189172 from Patent EP1572962.
JD299225 - Sequence 280249 from Patent EP1572962.
JD358946 - Sequence 339970 from Patent EP1572962.
JD102941 - Sequence 83965 from Patent EP1572962.
JD316352 - Sequence 297376 from Patent EP1572962.
JD066318 - Sequence 47342 from Patent EP1572962.
JD357680 - Sequence 338704 from Patent EP1572962.
JD225241 - Sequence 206265 from Patent EP1572962.
JD359873 - Sequence 340897 from Patent EP1572962.
JD247297 - Sequence 228321 from Patent EP1572962.
JD413565 - Sequence 394589 from Patent EP1572962.
JD524510 - Sequence 505534 from Patent EP1572962.
JD418169 - Sequence 399193 from Patent EP1572962.
JD259194 - Sequence 240218 from Patent EP1572962.
JD322596 - Sequence 303620 from Patent EP1572962.
DQ587206 - Homo sapiens piRNA piR-54318, complete sequence.
JD288686 - Sequence 269710 from Patent EP1572962.
JD561569 - Sequence 542593 from Patent EP1572962.
JD486834 - Sequence 467858 from Patent EP1572962.
JD226732 - Sequence 207756 from Patent EP1572962.
JD505004 - Sequence 486028 from Patent EP1572962.
JD306743 - Sequence 287767 from Patent EP1572962.
JD434446 - Sequence 415470 from Patent EP1572962.
JD436602 - Sequence 417626 from Patent EP1572962.
JD438137 - Sequence 419161 from Patent EP1572962.
JD097294 - Sequence 78318 from Patent EP1572962.
JD433522 - Sequence 414546 from Patent EP1572962.
JD536217 - Sequence 517241 from Patent EP1572962.
DQ587827 - Homo sapiens piRNA piR-54939, complete sequence.
AK000198 - Homo sapiens cDNA FLJ20191 fis, clone COLF0753.
JD555323 - Sequence 536347 from Patent EP1572962.
JD369940 - Sequence 350964 from Patent EP1572962.
JD074379 - Sequence 55403 from Patent EP1572962.
JD557898 - Sequence 538922 from Patent EP1572962.
JD304577 - Sequence 285601 from Patent EP1572962.
JD049122 - Sequence 30146 from Patent EP1572962.
JD096778 - Sequence 77802 from Patent EP1572962.
JD491119 - Sequence 472143 from Patent EP1572962.
JD421158 - Sequence 402182 from Patent EP1572962.
JD442366 - Sequence 423390 from Patent EP1572962.
JD378579 - Sequence 359603 from Patent EP1572962.
JD250179 - Sequence 231203 from Patent EP1572962.
JD268763 - Sequence 249787 from Patent EP1572962.
JD362174 - Sequence 343198 from Patent EP1572962.
JD360958 - Sequence 341982 from Patent EP1572962.
JD226717 - Sequence 207741 from Patent EP1572962.
JD370686 - Sequence 351710 from Patent EP1572962.
JD171848 - Sequence 152872 from Patent EP1572962.
JD426308 - Sequence 407332 from Patent EP1572962.
JD133648 - Sequence 114672 from Patent EP1572962.
JD193554 - Sequence 174578 from Patent EP1572962.
JD181159 - Sequence 162183 from Patent EP1572962.
JD473906 - Sequence 454930 from Patent EP1572962.
JD189038 - Sequence 170062 from Patent EP1572962.
JD102749 - Sequence 83773 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6557 - glycoaminoglycan-protein linkage region biosynthesis
PWY-6564 - heparan sulfate biosynthesis
PWY-6569 - chondroitin sulfate biosynthesis
PWY-6571 - dermatan sulfate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q86Y38 (Reactome details) participates in the following event(s):

R-HSA-1878002 XYLTs transfer Xyl to core protein
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000261381.1, ENST00000261381.2, ENST00000261381.3, ENST00000261381.4, ENST00000261381.5, ENST00000261381.6, NM_022166, Q86Y38, Q9H1B6, uc317gph.1, uc317gph.2, XT1, XYLT1_HUMAN
UCSC ID: ENST00000261381.7_7
RefSeq Accession: NM_022166.4
Protein: Q86Y38 (aka XYLT1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.