Free for academic non-profit institutions. Other users need a Commercial license

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 Exostosis and Hereditary Multiple Osteochondromas. Among its related pathways are heparan sulfate biosynthesis and Metabolism. 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

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

Genomics for EXTL1 Gene

Regulatory Elements for EXTL1 Gene

Enhancers for EXTL1 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
GH01F025995 0.2 ENCODE 11.5 -21.9 -21931 4.4 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 HMGN2 SYF2 ENSG00000207302 RPL17P9 LOC101928324 ENSG00000261349 FAM110D ENSG00000231953 RPL39P7 PAFAH2
GH01F025888 1.3 Ensembl ENCODE 11.2 -127.3 -127251 8.0 HDGF PKNOX1 ARNT ARID4B SIN3A CBX5 ZNF143 FOS KLF13 DEK SELENON MTFR1L PAFAH2 SYF2 ENSG00000252190 ENSG00000252691 EXTL1 RNU6-110P SLC30A2 TRIM63
GH01F025988 1.6 FANTOM5 Ensembl ENCODE 11 -28.1 -28126 7.3 HDGF PKNOX1 ARID4B ZNF2 ZNF48 ZNF121 GATA2 REST TBX21 PPARG PAFAH2 RNU6-110P MIR3917 STMN1 EXTL1 SLC30A2 TRIM63 FAM110D PIR35611 GC01M025975
GH01F026052 0.9 Ensembl ENCODE 11 +33.9 33927 2.0 ZNF121 ESRRA NR2F1 ADNP IKZF1 NR2F6 ZNF24 KDM1A EXTL1 FAM110D RNU6-110P AIM1L PAFAH2 ENSG00000236782 ZNF593 TMEM50A SLC30A2 TRIM63
GH01F025945 0.7 ENCODE 11 -74.7 -74720 0.2 SOX13 ZNF664 EXTL1 PAQR7 ENSG00000207302 TRIM63 GC01P025966 MIR3917 STMN1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EXTL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EXTL1 Gene

26,019,884 bp from pter
26,036,464 bp from pter
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 Asn 269
  • 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

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

GENATLAS Biochemistry:
EXT-like,expressed in skeletal muscle,brain and heart,homolog to EXT1 and EXT2
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.
UniProtKB/Swiss-Prot Function:
Probable glycosyltransferase.

Enzyme Numbers (IUBMB) 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

miRNA for EXTL1 Gene

miRTarBase miRNAs that target EXTL1

Inhibitory RNA Products

Flow Cytometry Products

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

Jensen Localization Image for EXTL1 Gene COMPARTMENTS Subcellular localization image for EXTL1 gene
Compartment Confidence
endoplasmic reticulum 4
golgi apparatus 2
extracellular 1
lysosome 1
plasma membrane 1
vacuole 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 IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EXTL1: view

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.

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:0006024 glycosaminoglycan biosynthetic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0015012 heparan sulfate proteoglycan biosynthetic process IEA --
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
  • 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
genes like me logo Genes that share compounds with EXTL1: view

Transcripts for EXTL1 Gene

Unigene Clusters for EXTL1 Gene

Exostosin-like glycosyltransferase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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:

genes like me logo Genes that share expression patterns with EXTL1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.21 (n)
(Bos Taurus)
Mammalia EXTL1 34 35
  • 85.04 (n)
(Canis familiaris)
Mammalia EXTL1 34 35
  • 84.26 (n)
(Mus musculus)
Mammalia Extl1 34 16 35
  • 79.08 (n)
(Rattus norvegicus)
Mammalia Extl1 34
  • 78.98 (n)
(Monodelphis domestica)
Mammalia EXTL1 35
  • 56 (a)
(Gallus gallus)
Aves EXTL1 35
  • 30 (a)
(Anolis carolinensis)
Reptilia EXTL1 35
  • 46 (a)
(Danio rerio)
Actinopterygii CABZ01072303.1 35
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta ttv 35
  • 36 (a)
(Caenorhabditis elegans)
Secernentea rib-1 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1939 35
  • 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)

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 Sequence Context AA Info Type
rs111621663 -- 26,032,845(+) CTGCC(A/G)CATGG intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs111653821 -- 26,032,788(+) CACAC(A/G)GGGCC intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs111854388 -- 26,024,526(+) CTCTC(A/G)TGGGA intron-variant
rs111910959 -- 26,034,133(+) ATTTG(A/G)AGTAG intron-variant
rs11247844 -- 26,020,591(+) GAAAG(A/G)GGGGG intron-variant, upstream-variant-2KB

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)

Relevant External Links for EXTL1 Gene

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

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

Disorders for EXTL1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
  • bone spur
hereditary multiple osteochondromas
  • diaphyseal aclasis
exostoses, multiple, type 1
  • hereditary multiple exostoses
inferior myocardial infarction
  • inferior myocardial infarction nos
- elite association - COSMIC cancer census association via MalaCards
Search EXTL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EXTL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 H.-X. (Hum. Genet. 1999) 3 4 22 64
  2. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. (PMID: 9037597) Wise C.A. … Lovett M. (Genome Res. 1997) 2 3 4 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  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 64
  5. Refined physical mapping and genomic structure of the EXTL1 gene. (PMID: 10575224) Wuyts W. … Speleman F. (Cytogenet. Cell Genet. 1999) 3 4 64

Products for EXTL1 Gene

Sources for EXTL1 Gene

Loading form....