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Gene Gene information from NCBI Gene database.
Entrez ID 2134
Gene name Exostosin like glycosyltransferase 1
Gene symbol EXTL1
Synonyms (NCBI Gene)
EXTL
Chromosome 1
Chromosome location 1p36.11
Summary 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 involv
miRNA miRNA information provided by mirtarbase database.
46 Show/Hide all (46)
miRTarBase ID miRNA Experiments Reference
MIRT973532 hsa-miR-10a CLIP-seq
MIRT973533 hsa-miR-10b CLIP-seq
MIRT973534 hsa-miR-1228 CLIP-seq
MIRT973535 hsa-miR-1229 CLIP-seq
MIRT973536 hsa-miR-136 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17 Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 9037597
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601738 3515 ENSG00000158008
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92935
Protein name Exostosin-like 1 (EC 2.4.1.224) (Exostosin-L) (Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Multiple exostosis-like protein)
Protein function Glycosyltransferase required for the biosynthesis of heparan-sulfate (HS) (PubMed:11390981). Transfers N-acetyl-alpha-D-glucosamine to the nascent HS chain (GlcNAcT-II activity) (PubMed:11390981). Appears to lack GlcNAcT I and GlcAT-II activitie
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03016 Exostosin 88 → 335 Exostosin family Family
PF09258 Glyco_transf_64 419 → 659 Glycosyl transferase family 64 domain Domain
Sequence
Sequence length 676
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Glycosaminoglycan biosynthesis - heparan sulfate / heparin XBP1(S) activates chaperone genes
Metabolic pathways