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Aliases for EXTL1 Gene

Aliases for EXTL1 Gene

  • Exostosin Like Glycosyltransferase 1 2 3 5
  • Exostosin-L 2 3 4
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N- Acetylglucosaminyltransferase 2 3
  • Glucuronyl-N-Acetylglucosaminylproteoglycan Alpha-1,4-N- Acetylglucosaminyltransferase 2 3
  • Alpha-N-Acetylglucosaminyltransferase II 2 3
  • Multiple Exostosis-Like Protein 3 4
  • Exostoses (Multiple)-Like 1 2 3
  • EXTL 3 4
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 4
  • Exostosin-Like 1 3
  • EC 4

External Ids for EXTL1 Gene

Previous GeneCards Identifiers for EXTL1 Gene

  • GC01P025828
  • GC01P025368
  • GC01P025581
  • GC01P025952
  • GC01P026220
  • GC01P026346
  • GC01P024602

Summaries for EXTL1 Gene

Entrez Gene Summary for EXTL1 Gene

  • This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]

GeneCards Summary for EXTL1 Gene

EXTL1 (Exostosin Like Glycosyltransferase 1) is a Protein Coding gene. Diseases associated with EXTL1 include Hereditary Multiple Exostoses and Exostosis. Among its related pathways are heparan sulfate biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. An important paralog of this gene is EXT1.

UniProtKB/Swiss-Prot for EXTL1 Gene

  • Probable glycosyltransferase.

Gene Wiki entry for EXTL1 Gene

Additional gene information for EXTL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXTL1 Gene

Genomics for EXTL1 Gene

GeneHancer (GH) Regulatory Elements for EXTL1 Gene

Promoters and enhancers for EXTL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J026015 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 -0.7 -737 8.1 MLX ARID4B SIN3A ZNF48 SLC30A9 ZNF121 ZNF143 ATF7 RUNX3 SP5 EXTL1 GC01M026017 ARID1A PAFAH2 HMGN2 SYF2 ENSG00000261349 LOC101928324 RPL17P9 LOC101928216
GH01J025995 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.5 -21.9 -21931 4.4 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 PAFAH2 ARID1A HMGN2 LOC101928324 GPN2 ENSG00000261349 SYF2 LOC101928728 ENSG00000207302 RPL17P9
GH01J025903 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 -114.3 -114268 4.9 HDGF CLOCK SMAD1 FOXA2 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 LOC105376885 MIR3917 PIR46219 STMN1 GPN2 ENSG00000261349 ARID1A MTFR1L LOC101928324 HMGN2
GH01J025888 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 11.2 -127.3 -127251 8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A IRF4 E2F8 ZNF143 FOS PAQR7 SELENON MTFR1L ARID1A PAFAH2 ENSG00000252190 ENSG00000252691 EXTL1 RNU6-110P SLC30A2
GH01J026121 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +105.3 105348 7.7 HDGF PKNOX1 CLOCK SMAD1 ARNT FEZF1 ZNF2 POLR2B ZNF766 E2F8 ARID1A HMGN2 LOC101928324 ENSG00000261349 GPN2 TRIM63 SYF2 LOC101928728 RPL17P9 GPATCH3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXTL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXTL1 gene promoter:
  • CUTL1
  • HEN1
  • AP-4
  • Spz1
  • ATF6
  • HFH-1
  • YY1
  • CREB
  • deltaCREB

Genomic Locations for EXTL1 Gene

Genomic Locations for EXTL1 Gene
16,581 bases
Plus strand
16,581 bases
Plus strand

Genomic View for EXTL1 Gene

Genes around EXTL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXTL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXTL1 Gene

Proteins for EXTL1 Gene

  • Protein details for EXTL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Exostosin-like 1
    Protein Accession:
    Secondary Accessions:
    • Q6GSC1

    Protein attributes for EXTL1 Gene

    676 amino acids
    Molecular mass:
    74697 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EXTL1 Gene

Post-translational modifications for EXTL1 Gene

  • Glycosylation at Asn269
  • Modification sites at PhosphoSitePlus

Other Protein References for EXTL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EXTL1 Gene

Domains & Families for EXTL1 Gene

Gene Families for EXTL1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for EXTL1 Gene

Suggested Antigen Peptide Sequences for EXTL1 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 EXTL1: view

Function for EXTL1 Gene

Molecular function for EXTL1 Gene

UniProtKB/Swiss-Prot Function:
Probable glycosyltransferase.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.
GENATLAS Biochemistry:
EXT-like,expressed in skeletal muscle,brain and heart,homolog to EXT1 and EXT2

Enzyme Numbers (IUBMB) for EXTL1 Gene

Phenotypes From GWAS Catalog for EXTL1 Gene

Gene Ontology (GO) - Molecular Function for EXTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0050508 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with EXTL1: view
genes like me logo Genes that share phenotypes with EXTL1: view

Animal Model Products

CRISPR Products

miRNA for EXTL1 Gene

miRTarBase miRNAs that target EXTL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXTL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EXTL1 Gene

Localization for EXTL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXTL1 Gene

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

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXTL1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
plasma membrane 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EXTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EXTL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EXTL1 Gene

Pathways & Interactions for EXTL1 Gene

genes like me logo Genes that share pathways with EXTL1: view

Pathways by source for EXTL1 Gene

UniProtKB/Swiss-Prot Q92935-EXTL1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for EXTL1 Gene

SIGNOR curated interactions for EXTL1 Gene


Gene Ontology (GO) - Biological Process for EXTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9037597
GO:0006486 protein glycosylation IEA --
GO:0036498 IRE1-mediated unfolded protein response TAS --
genes like me logo Genes that share ontologies with EXTL1: view

Drugs & Compounds for EXTL1 Gene

(1) Drugs for EXTL1 Gene - From: HMDB

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

(2) Additional Compounds for EXTL1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
genes like me logo Genes that share compounds with EXTL1: view

Transcripts for EXTL1 Gene

mRNA/cDNA for EXTL1 Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(43) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EXTL1 Gene

Exostosin-like glycosyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXTL1

Alternative Splicing Database (ASD) splice patterns (SP) for EXTL1 Gene

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

Relevant External Links for EXTL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EXTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXTL1 Gene

mRNA differential expression in normal tissues according to GTEx for EXTL1 Gene

This gene is overexpressed in Brain - Cortex (x9.1), Nerve - Tibial (x6.3), Brain - Frontal Cortex (BA9) (x6.0), Brain - Anterior cingulate cortex (BA24) (x5.6), Brain - Amygdala (x4.5), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for EXTL1 Gene

This gene is overexpressed in Heart (28.5), Liver (23.3), and Breast (17.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EXTL1 Gene

Protein tissue co-expression partners for EXTL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EXTL1 Gene:


SOURCE GeneReport for Unigene cluster for EXTL1 Gene:


Evidence on tissue expression from TISSUES for EXTL1 Gene

  • Skin(4.1)
  • Nervous system(3.9)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with EXTL1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXTL1 Gene

Orthologs for EXTL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXTL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EXTL1 34 33
  • 99.21 (n)
(Bos Taurus)
Mammalia EXTL1 34 33
  • 85.04 (n)
(Canis familiaris)
Mammalia EXTL1 34 33
  • 84.26 (n)
(Mus musculus)
Mammalia Extl1 16 34 33
  • 79.08 (n)
(Rattus norvegicus)
Mammalia Extl1 33
  • 78.98 (n)
(Monodelphis domestica)
Mammalia EXTL1 34
  • 56 (a)
(Gallus gallus)
Aves EXTL1 34
  • 30 (a)
(Anolis carolinensis)
Reptilia EXTL1 34
  • 46 (a)
(Danio rerio)
Actinopterygii CABZ01072303.1 34
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta ttv 34
  • 36 (a)
(Caenorhabditis elegans)
Secernentea rib-1 34
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1939 34
  • 34 (a)
Species where no ortholog for EXTL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for EXTL1 Gene

Gene Tree for EXTL1 (if available)
Gene Tree for EXTL1 (if available)
Evolutionary constrained regions (ECRs) for EXTL1: view image

Paralogs for EXTL1 Gene

Paralogs for EXTL1 Gene

(1) SIMAP similar genes for EXTL1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EXTL1: view

Variants for EXTL1 Gene

Sequence variations from dbSNP and Humsavar for EXTL1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000023137 -- 26,028,898(+) G/C intron_variant
rs1000078756 -- 26,022,186(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1001154204 -- 26,025,885(+) G/T intron_variant
rs1001422598 -- 26,035,999(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001523480 -- 26,026,183(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EXTL1 Gene

Variant ID Type Subtype PubMed ID
nsv834513 CNV gain 17160897
nsv950338 CNV deletion 24416366

Variation tolerance for EXTL1 Gene

Residual Variation Intolerance Score: 89.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.41; 71.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXTL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXTL1 Gene

Disorders for EXTL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for EXTL1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hereditary multiple exostoses
  • hereditary multiple exostoses 1
  • bone spur
hereditary multiple osteochondromas
  • multiple cartilaginous exostoses
trichorhinophalangeal syndrome, type i
  • trps1
trichorhinophalangeal syndrome, type ii
  • trps2
- elite association - COSMIC cancer census association via MalaCards
Search EXTL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EXTL1

genes like me logo Genes that share disorders with EXTL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXTL1 Gene

Publications for EXTL1 Gene

  1. Mutation analysis of hereditary multiple exostoses in the Chinese. (PMID: 10480354) Xu L … Deng HX (Human genetics 1999) 3 4 22 58
  2. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. (PMID: 9037597) Wise CA … Lovett M (Genome research 1997) 2 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Refined physical mapping and genomic structure of the EXTL1 gene. (PMID: 10575224) Wuyts W … Speleman F (Cytogenetics and cell genetics 1999) 3 4 58

Products for EXTL1 Gene

Sources for EXTL1 Gene

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