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Aliases for EXTL1 Gene

Aliases for EXTL1 Gene

  • Exostosin-Like Glycosyltransferase 1 2 3
  • 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
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
  • Alpha-N-Acetylglucosaminyltransferase II 2 3
  • Multiple Exostosis-Like Protein 3 4
  • Exostoses (Multiple)-Like 1 2 3
  • EXTL 3 4
  • Exostosin-Like 1 3
  • EC 2.4.1.224 4

External Ids for EXTL1 Gene

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 Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. An important paralog of this gene is EXT2.

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

Genomic Location for EXTL1 Gene

Start:
26,019,884 bp from pter
End:
26,036,464 bp from pter
Size:
16,581 bases
Orientation:
Plus strand

Genomic View for EXTL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EXTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXTL1 Gene

Regulatory Elements for EXTL1 Gene

Proteins for EXTL1 Gene

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

    Protein Symbol:
    Q92935-EXTL1_HUMAN
    Recommended name:
    Exostosin-like 1
    Protein Accession:
    Q92935
    Secondary Accessions:
    • Q6GSC1

    Protein attributes for EXTL1 Gene

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

neXtProt entry for EXTL1 Gene

Proteomics data for EXTL1 Gene at MOPED

Post-translational modifications for EXTL1 Gene

Other Protein References for EXTL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EXTL1 Gene

Domains for EXTL1 Gene

Gene Families for EXTL1 Gene

HGNC:
  • EXT :Exostosin glycosyltransferase family

Protein Domains for EXTL1 Gene

UniProtKB/Swiss-Prot:

EXTL1_HUMAN
Family:
  • Belongs to the glycosyltransferase 47 family.:
    • Q92935
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:0016758 transferase activity, transferring hexosyl groups --
GO:0050508 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with EXTL1: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for EXTL1 Gene COMPARTMENTS Subcellular localization image for EXTL1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
extracellular 1
lysosome 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EXTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031227 intrinsic component of endoplasmic reticulum membrane --
genes like me logo Genes that share ontologies with EXTL1: view

Pathways 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

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

Compounds for EXTL1 Gene

(2) HMDB Compounds for EXTL1 Gene

Compound Synonyms Cas Number PubMed IDs
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
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
528-04-1

(1) Novoseek inferred chemical compound relationships for EXTL1 Gene

Compound -log(P) Hits PubMed IDs
heparan sulfate 68.9 2
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:

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: - - -
SP5:

Relevant External Links for EXTL1 Gene

GeneLoc Exon Structure for
EXTL1
ECgene alternative splicing isoforms for
EXTL1

Expression for EXTL1 Gene

mRNA expression in normal human tissues for EXTL1 Gene

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

This gene is overexpressed in Brain - Cortex (9.1), Nerve - Tibial (6.3), Brain - Frontal Cortex (BA9) (6.0), Brain - Anterior cingulate cortex (BA24) (5.6), Brain - Amygdala (4.5), and Brain - Hippocampus (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EXTL1 Gene

SOURCE GeneReport for Unigene cluster for EXTL1 Gene Hs.150956

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

Orthologs for EXTL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXTL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXTL1 36
  • 99.21 (n)
  • 99.11 (a)
EXTL1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EXTL1 36
  • 85.04 (n)
  • 80.83 (a)
EXTL1 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXTL1 36
  • 84.26 (n)
  • 79.22 (a)
EXTL1 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Extl1 36
  • 79.08 (n)
  • 74.92 (a)
Extl1 16
Extl1 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXTL1 37
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Extl1 36
  • 78.98 (n)
  • 74.92 (a)
chicken
(Gallus gallus)
Aves EXTL1 37
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXTL1 37
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01072303.1 37
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ttv 37
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rib-1 37
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1939 37
  • 34 (a)
OneToMany
Species with no ortholog for EXTL1:
  • 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

ENSEMBL:
Gene Tree for EXTL1 (if available)
TreeFam:
Gene Tree for EXTL1 (if available)

Paralogs for EXTL1 Gene

Paralogs for EXTL1 Gene

Selected 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 MAF
rs1134759 -- 26,036,171(+) GCATG(C/T)CCAGA utr-variant-3-prime
rs1804707 -- 26,036,201(+) GGTGA(A/G)CGCTG utr-variant-3-prime
rs1804708 -- 26,034,854(+) CTCTT(C/T)ACCCA reference, synonymous-codon
rs1938403 -- 26,034,018(-) ctcta(G/T)agaag intron-variant
rs1938405 -- 26,023,476(-) CTTGC(A/G)TCTAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834513 CNV Gain 17160897
nsv871353 CNV Loss 21882294

Relevant External Links for EXTL1 Gene

HapMap Linkage Disequilibrium report
EXTL1
Human Gene Mutation Database (HGMD)
EXTL1

Disorders for EXTL1 Gene

(1) University of Copenhagen DISEASES for EXTL1 Gene

(2) Novoseek inferred disease relationships for EXTL1 Gene

Disease -log(P) Hits PubMed IDs
exostoses multiple hereditary 92.4 1
tumors 0 1
genes like me logo Genes that share disorders with EXTL1: view

No data available for UniProtKB/Swiss-Prot 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 23
  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
  3. Refined physical mapping and genomic structure of the EXTL1 gene. (PMID: 10575224) Wuyts W. … Speleman F. (Cytogenet. Cell Genet. 1999) 3 4
  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
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for EXTL1 Gene

Sources for EXTL1 Gene

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