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Aliases for EXTL3 Gene

Aliases for EXTL3 Gene

  • Exostosin-Like Glycosyltransferase 3 2 3
  • Glucuronyl-Galactosyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 2 3 4
  • EXTR1 3 4 6
  • Hereditary Multiple Exostoses Gene Isolog 3 4
  • Putative Tumor Suppressor Protein EXTL3 3 4
  • Exostoses (Multiple)-Like 3 2 3
  • EXTL1L 3 4
  • Multiple Exostosis-Like Protein 3 4
  • Exostosin Tumor-Like 3 3
  • EXT-Related Protein 1 4
  • Exostosin-Like 3 3
  • EXT-Related 1 3
  • REG Receptor 2
  • Reg Receptor 3
  • EC 4
  • KIAA0519 4
  • BOTV 3
  • REGR 3
  • RPR 3

External Ids for EXTL3 Gene

Previous GeneCards Identifiers for EXTL3 Gene

  • GC08P028342
  • GC08P029064
  • GC08P028581
  • GC08P027104
  • GC08P028457

Summaries for EXTL3 Gene

Entrez Gene Summary for EXTL3 Gene

  • This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneCards Summary for EXTL3 Gene

EXTL3 (Exostosin-Like Glycosyltransferase 3) is a Protein Coding gene. Diseases associated with EXTL3 include trichomoniasis and exostosis. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Metabolism. GO annotations related to this gene include glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. An important paralog of this gene is EXT2.

UniProtKB/Swiss-Prot for EXTL3 Gene

  • Probable glycosyltransferase (By similarity). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.

Gene Wiki entry for EXTL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXTL3 Gene

Genomics for EXTL3 Gene

Regulatory Elements for EXTL3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EXTL3 Gene

28,600,469 bp from pter
28,755,599 bp from pter
155,131 bases
Plus strand

Genomic View for EXTL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EXTL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXTL3 Gene

Proteins for EXTL3 Gene

  • Protein details for EXTL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Exostosin-like 3
    Protein Accession:
    Secondary Accessions:
    • D3DST8
    • O00225
    • Q53XT3

    Protein attributes for EXTL3 Gene

    919 amino acids
    Molecular mass:
    104749 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with REG3A.
    • Sequence=BAA25445.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for EXTL3 Gene

Proteomics data for EXTL3 Gene at MOPED

Post-translational modifications for EXTL3 Gene

  • Glycosylation at Asn277, Asn290, Asn592, and Asn790
  • Modification sites at PhosphoSitePlus

Other Protein References for EXTL3 Gene

Antibody Products

  • R&D Systems Antibodies for EXTL3 (Exostosin-like 3/EXTL3)

No data available for DME Specific Peptides for EXTL3 Gene

Domains for EXTL3 Gene

Gene Families for EXTL3 Gene

Protein Domains for EXTL3 Gene

Suggested Antigen Peptide Sequences for EXTL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 47 family.
  • Belongs to the glycosyltransferase 47 family.
genes like me logo Genes that share domains with EXTL3: view

Function for EXTL3 Gene

Molecular function for EXTL3 Gene

GENATLAS Biochemistry:
EXT-like 3,ubiquitously expressed (see TSG8D)
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan
UniProtKB/Swiss-Prot Function:
Probable glycosyltransferase (By similarity). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.

Enzyme Numbers (IUBMB) for EXTL3 Gene

Gene Ontology (GO) - Molecular Function for EXTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA --
GO:0016758 transferase activity, transferring hexosyl groups --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EXTL3: view
genes like me logo Genes that share phenotypes with EXTL3: view

Animal Models for EXTL3 Gene

MGI Knock Outs for EXTL3:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EXTL3

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for EXTL3 Gene

Localization for EXTL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXTL3 Gene

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

Subcellular locations from

Jensen Localization Image for EXTL3 Gene COMPARTMENTS Subcellular localization image for EXTL3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EXTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 10639137
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0031227 intrinsic component of endoplasmic reticulum membrane --
genes like me logo Genes that share ontologies with EXTL3: view

Pathways for EXTL3 Gene

genes like me logo Genes that share pathways with EXTL3: view

UniProtKB/Swiss-Prot O43909-EXTL3_HUMAN

  • Pathway: Glycan metabolism; heparan sulfate biosynthesis

Gene Ontology (GO) - Biological Process for EXTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process IEA --
GO:0006987 activation of signaling protein activity involved in unfolded protein response --
GO:0015012 heparan sulfate proteoglycan biosynthetic process IEA --
GO:0030307 positive regulation of cell growth IEA --
GO:0030968 endoplasmic reticulum unfolded protein response TAS --
genes like me logo Genes that share ontologies with EXTL3: view

Drugs for EXTL3 Gene

(2) HMDB Compounds for EXTL3 Gene

Compound Synonyms Cas Number PubMed IDs
Uridine 5'-diphosphate
  • 5'-UDP
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide

(3) Novoseek inferred chemical compound relationships for EXTL3 Gene

Compound -log(P) Hits PubMed IDs
ecdysone 70.8 3
heparan sulfate 59.4 6
steroid 27.3 2
genes like me logo Genes that share compounds with EXTL3: view

Transcripts for EXTL3 Gene

Unigene Clusters for EXTL3 Gene

Exostosin-like glycosyltransferase 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EXTL3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXTL3 Gene

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

Relevant External Links for EXTL3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EXTL3 Gene

mRNA expression in normal human tissues for EXTL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for EXTL3 Gene

This gene is overexpressed in Cervix (57.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EXTL3 Gene

SOURCE GeneReport for Unigene cluster for EXTL3 Gene Hs.491354

mRNA Expression by UniProt/SwissProt for EXTL3 Gene

Tissue specificity: Ubiquitous. Expressed in keratinocytes.
genes like me logo Genes that share expressions with EXTL3: view

Expression partners for EXTL3 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EXTL3 Gene

Orthologs for EXTL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXTL3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EXTL3 35
  • 88.39 (n)
  • 96.95 (a)
EXTL3 36
  • 97 (a)
(Canis familiaris)
Mammalia EXTL3 35
  • 90.06 (n)
  • 98.48 (a)
EXTL3 36
  • 95 (a)
(Mus musculus)
Mammalia Extl3 35
  • 88.54 (n)
  • 97.39 (a)
Extl3 16
Extl3 36
  • 97 (a)
(Pan troglodytes)
Mammalia EXTL3 35
  • 99.56 (n)
  • 99.89 (a)
EXTL3 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Extl3 35
  • 88.61 (n)
  • 97.28 (a)
(Monodelphis domestica)
Mammalia EXTL3 36
  • 93 (a)
(Gallus gallus)
Aves EXTL3 35
  • 79.22 (n)
  • 90.86 (a)
EXTL3 36
  • 91 (a)
(Anolis carolinensis)
Reptilia EXTL3 36
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia extl3 35
  • 76.1 (n)
  • 88.36 (a)
(Danio rerio)
Actinopterygii extl3 35
  • 72.12 (n)
  • 83.53 (a)
extl3 36
  • 83 (a)
fruit fly
(Drosophila melanogaster)
Insecta botv 37
  • 51 (a)
botv 35
  • 55.96 (n)
  • 53.39 (a)
botv 36
  • 48 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001688 35
  • 56.94 (n)
  • 52.05 (a)
(Caenorhabditis elegans)
Secernentea rib-2 37
  • 34 (a)
rib-2 36
  • 36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11023 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
Species with no ortholog for EXTL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for EXTL3 Gene

Gene Tree for EXTL3 (if available)
Gene Tree for EXTL3 (if available)

Paralogs for EXTL3 Gene

Paralogs for EXTL3 Gene

(3) SIMAP similar genes for EXTL3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with EXTL3: view

Variants for EXTL3 Gene

Sequence variations from dbSNP and Humsavar for EXTL3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs240950 -- 28,714,285(+) GAAAT(A/C)AAATG intron-variant
rs240951 -- 28,717,286(+) CTGCC(A/G)ACTGA synonymous-codon, reference, intron-variant
rs730905 -- 28,713,305(-) TACTG(G/T)CCAAA intron-variant
rs736734 -- 28,740,045(-) GGGCG(C/T)TGCTA intron-variant
rs743676 -- 28,740,248(-) CAGGT(A/G)AGCGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EXTL3 Gene

Variant ID Type Subtype PubMed ID
esv1008413 CNV Deletion 20482838

Relevant External Links for EXTL3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXTL3 Gene

Disorders for EXTL3 Gene

(2) Novoseek inferred disease relationships for EXTL3 Gene

Disease -log(P) Hits PubMed IDs
exostoses multiple hereditary 84.3 2
tumors 6.33 8
genes like me logo Genes that share disorders with EXTL3: view

No data available for OMIM , UniProtKB/Swiss-Prot , Genatlas and External Links for EXTL3 Gene

Publications for EXTL3 Gene

  1. Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. (PMID: 9479495) van Hul W. … Willems P.J. (Genomics 1998) 2 3 4 23
  2. Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. (PMID: 9473480) Saito T. … Hori T.-A. (Biochem. Biophys. Res. Commun. 1998) 3 4 23
  3. Overexpression of EXTL3/EXTR1 enhances NF-kappaB activity induced by TNF-alpha. (PMID: 11257457) Mizuno K. … Sato T.A. (Cell. Signal. 2001) 2 3 23
  4. Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis. (PMID: 11390981) Kim B.T. … Sugahara K. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 23
  5. Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. (PMID: 17761672) Busse M. … Kusche-Gullberg M. (J. Biol. Chem. 2007) 3 23

Products for EXTL3 Gene

Sources for EXTL3 Gene

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