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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
  • Exostosin-Like Glycosyltransferase 3 2 3 5
  • Hereditary Multiple Exostoses Gene Isolog 3 4
  • Putative Tumor Suppressor Protein EXTL3 3 4
  • Exostoses (Multiple)-Like 3 2 3
  • EXTL1L 3 4
  • EXTR1 3 4
  • Multiple Exostosis-Like Protein 3 4
  • Exostosin Tumor-Like 3 3
  • EXT-Related Protein 1 4
  • EXT-Related 1 3
  • REG Receptor 2
  • Reg Receptor 3
  • EC 2.4.1.223 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 Hereditary Multiple Exostoses and Latent Syphilis. Among its related pathways are heparan sulfate biosynthesis and Metabolism. GO annotations related to this gene include transferase activity, transferring hexosyl groups and 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

Enhancers for EXTL3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EXTL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for EXTL3 Gene

Chromosome:
8
Start:
28,600,469 bp from pter
End:
28,755,599 bp from pter
Size:
155,131 bases
Orientation:
Plus strand

Genomic View for EXTL3 Gene

Genes around EXTL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXTL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    O43909-EXTL3_HUMAN
    Recommended name:
    Exostosin-like 3
    Protein Accession:
    O43909
    Secondary Accessions:
    • D3DST8
    • O00225
    • Q53XT3

    Protein attributes for EXTL3 Gene

    Size:
    919 amino acids
    Molecular mass:
    104749 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with REG3A.
    SequenceCaution:
    • 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 Asn 277, Asn 290, Asn 592, and Asn 790
  • Modification sites at PhosphoSitePlus

Other Protein References for EXTL3 Gene

Antibody Products

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

No data available for DME Specific Peptides for EXTL3 Gene

Domains & Families 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

O43909

UniProtKB/Swiss-Prot:

EXTL3_HUMAN :
  • Belongs to the glycosyltransferase 47 family.
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:0004872 receptor activity 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

  • Taconic Biosciences Mouse Models for EXTL3

miRNA for EXTL3 Gene

miRTarBase miRNAs that target EXTL3

No data available for Human Phenotype Ontology , 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

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

Gene Ontology (GO) - Cellular Components for EXTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with EXTL3: view

Pathways & Interactions 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 --
genes like me logo Genes that share ontologies with EXTL3: view

No data available for SIGNOR curated interactions for EXTL3 Gene

Drugs & Compounds for EXTL3 Gene

(1) Drugs for EXTL3 Gene - From: HMDB

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

(4) Additional Compounds for EXTL3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
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:

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: -
SP7:

Relevant External Links for EXTL3 Gene

GeneLoc Exon Structure for
EXTL3
ECgene alternative splicing isoforms for
EXTL3

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 from HIPED for EXTL3 Gene

This gene is overexpressed in Cervix (57.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

O43909-EXTL3_HUMAN
Tissue specificity: Ubiquitous. Expressed in keratinocytes.
genes like me logo Genes that share expression patterns with EXTL3: view

Protein tissue co-expression partners for EXTL3 Gene

Primer 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
cow
(Bos Taurus)
Mammalia EXTL3 35
  • 88.39 (n)
  • 96.95 (a)
EXTL3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXTL3 35
  • 90.06 (n)
  • 98.48 (a)
EXTL3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Extl3 35
  • 88.54 (n)
  • 97.39 (a)
Extl3 16
Extl3 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EXTL3 35
  • 99.56 (n)
  • 99.89 (a)
EXTL3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Extl3 35
  • 88.61 (n)
  • 97.28 (a)
oppossum
(Monodelphis domestica)
Mammalia EXTL3 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXTL3 35
  • 79.22 (n)
  • 90.86 (a)
EXTL3 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXTL3 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia extl3 35
  • 76.1 (n)
  • 88.36 (a)
zebrafish
(Danio rerio)
Actinopterygii extl3 35
  • 72.12 (n)
  • 83.53 (a)
extl3 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta botv 37
  • 51 (a)
botv 35
  • 55.96 (n)
  • 53.39 (a)
botv 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001688 35
  • 56.94 (n)
  • 52.05 (a)
worm
(Caenorhabditis elegans)
Secernentea rib-2 37
  • 34 (a)
rib-2 36
  • 36 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11023 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EXTL3 (if available)
TreeFam:
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
rs2269452 - 28,718,176(-) ACAGA(A/G)GGTCC intron-variant, reference, missense
rs35781576 - 28,717,708(-) CAGCT(A/G)CCGCC intron-variant, reference, missense
rs2048369 -- 28,743,055(-) ATGCT(C/G)TGTTA intron-variant
rs2071340 -- 28,731,387(-) TCACT(C/G/T)GCAAC intron-variant
rs2237811 -- 28,739,649(-) TAGGC(C/T)GGTTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv1008413 CNV Deletion 20482838

Variation tolerance for EXTL3 Gene

Residual Variation Intolerance Score: 1.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXTL3 Gene

Human Gene Mutation Database (HGMD)
EXTL3

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

Disorders for EXTL3 Gene

MalaCards: The human disease database

(23) MalaCards diseases for EXTL3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hereditary multiple exostoses
  • hereditary multiple exostoses 1
latent syphilis
  • syphilis, latent
primary syphilis
  • early symptomatic syphilis
tertiary syphilis
  • late syphilis
tertiary neurosyphilis
  • late neurosyphilis
- elite association - COSMIC cancer census association via MalaCards
Search EXTL3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EXTL3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EXTL3
genes like me logo Genes that share disorders with EXTL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. 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
  3. Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. (PMID: 17761672) Busse M. … Kusche-Gullberg M. (J. Biol. Chem. 2007) 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. EXTL3/EXTR1 alterations in colorectal cancer cell lines. (PMID: 10536173) Arai T. … Yuasa Y. (Int. J. Oncol. 1999) 3 23

Products for EXTL3 Gene

Sources for EXTL3 Gene

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