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Aliases for XXYLT1 Gene

Aliases for XXYLT1 Gene

  • Xyloside Xylosyltransferase 1 2 3 5
  • UDP-Xylose:Alpha-Xyloside Alpha-1,3-Xylosyltransferase 3 4
  • C3orf21 3 4
  • Chromosome 3 Open Reading Frame 21 2
  • EC 2.4.2.n3 4

External Ids for XXYLT1 Gene

Previous HGNC Symbols for XXYLT1 Gene

  • C3orf21

Previous GeneCards Identifiers for XXYLT1 Gene

  • GC03M194790

Summaries for XXYLT1 Gene

GeneCards Summary for XXYLT1 Gene

XXYLT1 (Xyloside Xylosyltransferase 1) is a Protein Coding gene. GO annotations related to this gene include transferase activity, transferring glycosyl groups and transferase activity, transferring pentosyl groups. An important paralog of this gene is LARGE2.

UniProtKB/Swiss-Prot for XXYLT1 Gene

  • Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of the second xylose.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XXYLT1 Gene

Genomics for XXYLT1 Gene

Regulatory Elements for XXYLT1 Gene

Enhancers for XXYLT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around XXYLT1 on UCSC Golden Path with GeneCards custom track

Promoters for XXYLT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for XXYLT1 Gene

Chromosome:
3
Start:
195,068,276 bp from pter
End:
195,271,167 bp from pter
Size:
202,892 bases
Orientation:
Minus strand

Genomic View for XXYLT1 Gene

Genes around XXYLT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XXYLT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XXYLT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XXYLT1 Gene

Proteins for XXYLT1 Gene

  • Protein details for XXYLT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBI6-XXLT1_HUMAN
    Recommended name:
    Xyloside xylosyltransferase 1
    Protein Accession:
    Q8NBI6
    Secondary Accessions:
    • D3DNW5
    • Q8NAL3
    • Q8WV03
    • Q96ME0

    Protein attributes for XXYLT1 Gene

    Size:
    393 amino acids
    Molecular mass:
    43807 Da
    Quaternary structure:
    • Monomer. Homodimer. Dimer formation may be essential for the retention in endoplasmic reticulum.
    SequenceCaution:
    • Sequence=AAH19036.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for XXYLT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XXYLT1 Gene

Post-translational modifications for XXYLT1 Gene

  • Ubiquitination at Lys 321
  • Glycosylation at Ser 67 and Ser 77
  • Modification sites at PhosphoSitePlus

Other Protein References for XXYLT1 Gene

No data available for DME Specific Peptides for XXYLT1 Gene

Domains & Families for XXYLT1 Gene

Gene Families for XXYLT1 Gene

Protein Domains for XXYLT1 Gene

Suggested Antigen Peptide Sequences for XXYLT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NBI6

UniProtKB/Swiss-Prot:

XXLT1_HUMAN :
  • Belongs to the glycosyltransferase 8 family.
Family:
  • Belongs to the glycosyltransferase 8 family.
genes like me logo Genes that share domains with XXYLT1: view

Function for XXYLT1 Gene

Molecular function for XXYLT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-xylose + alpha-D-xylose-(1->3)-beta-D-glucosyl-R = UDP + alpha-D-xylose-(1->3)-alpha-D-xylose-(1->3)-beta-D-glucosyl-R.
UniProtKB/Swiss-Prot Function:
Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of the second xylose.

Enzyme Numbers (IUBMB) for XXYLT1 Gene

Gene Ontology (GO) - Molecular Function for XXYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016763 transferase activity, transferring pentosyl groups IEA --
genes like me logo Genes that share ontologies with XXYLT1: view
genes like me logo Genes that share phenotypes with XXYLT1: view

Animal Models for XXYLT1 Gene

MGI Knock Outs for XXYLT1:

Animal Model Products

CRISPR Products

miRNA for XXYLT1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for XXYLT1 Gene

Localization for XXYLT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XXYLT1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XXYLT1 Gene COMPARTMENTS Subcellular localization image for XXYLT1 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 2
golgi apparatus 2
mitochondrion 2
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for XXYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with XXYLT1: view

Pathways & Interactions for XXYLT1 Gene

SuperPathways for XXYLT1 Gene

No Data Available

Interacting Proteins for XXYLT1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000309640%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000385269%0d%0a
Selected Interacting proteins: ENSP00000309640 Q8NBI6-XXLT1_HUMAN for XXYLT1 Gene via STRING IID

SIGNOR curated interactions for XXYLT1 Gene

Activates:

Gene Ontology (GO) - Biological Process for XXYLT1 Gene

None

No data available for Pathways by source for XXYLT1 Gene

Drugs & Compounds for XXYLT1 Gene

(1) Drugs for XXYLT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(1) Additional Compounds for XXYLT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
UDP-D-Xylose
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-D-Xylose
3616-06-6
genes like me logo Genes that share compounds with XXYLT1: view

Transcripts for XXYLT1 Gene

Unigene Clusters for XXYLT1 Gene

Xyloside xylosyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for XXYLT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d · 13e
SP1: - - - - -
SP2: - - - - - - - - -
SP3:
SP4: - - - -
SP5: - - -
SP6: - -
SP7: - - -

Relevant External Links for XXYLT1 Gene

GeneLoc Exon Structure for
XXYLT1
ECgene alternative splicing isoforms for
XXYLT1

Expression for XXYLT1 Gene

mRNA expression in normal human tissues for XXYLT1 Gene

Protein differential expression in normal tissues from HIPED for XXYLT1 Gene

This gene is overexpressed in Pancreas (27.2), Bone (16.9), and Plasma (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for XXYLT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of XXYLT1 Gene:

XXYLT1

SOURCE GeneReport for Unigene cluster for XXYLT1 Gene:

Hs.478741
genes like me logo Genes that share expression patterns with XXYLT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for XXYLT1 Gene

Orthologs for XXYLT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for XXYLT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia XXYLT1 34
  • 92.09 (n)
  • 95.66 (a)
XXYLT1 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xxylt1 34
  • 89.46 (n)
  • 91.84 (a)
Xxylt1 16
Xxylt1 35
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia XXYLT1 34
  • 99.32 (n)
  • 99.24 (a)
XXYLT1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xxylt1 34
  • 88.86 (n)
  • 92.09 (a)
dog
(Canis familiaris)
Mammalia XXYLT1 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XXYLT1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves XXYLT1 34
  • 70.55 (n)
  • 71.04 (a)
lizard
(Anolis carolinensis)
Reptilia XXYLT1 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c3orf21 34
  • 68.54 (n)
  • 69.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19504 34
zebrafish
(Danio rerio)
Actinopterygii LOC100334669 34
  • 64.53 (n)
  • 62.4 (a)
XXYLT1 (1 of 2) 35
  • 60 (a)
OneToMany
XXYLT1 (2 of 2) 35
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007604 34
  • 55.02 (n)
  • 42.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11388 34
  • 54.43 (n)
  • 44.41 (a)
CG11388 35
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8510 35
  • 30 (a)
OneToOne
Species where no ortholog for XXYLT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XXYLT1 Gene

ENSEMBL:
Gene Tree for XXYLT1 (if available)
TreeFam:
Gene Tree for XXYLT1 (if available)

Paralogs for XXYLT1 Gene

Paralogs for XXYLT1 Gene

genes like me logo Genes that share paralogs with XXYLT1: view

Variants for XXYLT1 Gene

Sequence variations from dbSNP and Humsavar for XXYLT1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs869519 -- 195,114,460(+) TGTAC(A/G)GTCCT intron-variant
rs869520 -- 195,114,313(+) ATTGC(A/C)CCCAA intron-variant
rs873120 -- 195,132,760(-) ACTAC(A/C/G)GTCTG intron-variant
rs874197 -- 195,132,698(+) AGGAA(C/T)GCCAC intron-variant
rs874198 -- 195,132,711(+) TTTTA(C/T)TCTCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XXYLT1 Gene

Variant ID Type Subtype PubMed ID
dgv2677n106 CNV deletion 24896259
dgv2678n106 CNV deletion 24896259
dgv8827n54 CNV gain+loss 21841781
dgv8828n54 CNV gain 21841781
esv2038835 CNV deletion 18987734
esv2675653 CNV deletion 23128226
esv2726461 CNV deletion 23290073
esv28466 CNV loss 19812545
esv33213 CNV loss 17666407
esv3378262 CNV insertion 20981092
esv3417334 CNV insertion 20981092
esv3563146 CNV deletion 23714750
esv3563150 CNV deletion 23714750
esv3569210 CNV loss 25503493
esv3599226 CNV gain 21293372
esv3778 CNV loss 18987735
esv996963 CNV deletion 20482838
nsv1001492 CNV gain 25217958
nsv1009796 CNV gain 25217958
nsv1114471 CNV deletion 24896259
nsv1117360 CNV tandem duplication 24896259
nsv1123726 CNV deletion 24896259
nsv1139193 CNV deletion 24896259
nsv436791 CNV insertion 17901297
nsv461126 CNV loss 19166990
nsv592981 CNV loss 21841781
nsv592982 CNV loss 21841781
nsv592983 CNV loss 21841781
nsv592984 CNV loss 21841781
nsv592990 CNV loss 21841781
nsv819035 CNV loss 19587683
nsv822407 CNV loss 20364138
nsv950296 CNV deletion 24416366
nsv950297 CNV deletion 24416366
nsv950298 CNV deletion 24416366

Variation tolerance for XXYLT1 Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XXYLT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
XXYLT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XXYLT1 Gene

Disorders for XXYLT1 Gene

Relevant External Links for XXYLT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XXYLT1

No disorders were found for XXYLT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for XXYLT1 Gene

Publications for XXYLT1 Gene

  1. Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of Notch. (PMID: 22117070) Sethi M.K. … Bakker H. (J. Biol. Chem. 2012) 2 3 4 65
  2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65

Products for XXYLT1 Gene

Sources for XXYLT1 Gene

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