EXTL1 (exostosin like glycosyltransferase 1)
|
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
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
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
|
|||||||||||||||
| Sequence |
MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQ |
|||||||||||||||
| Sequence length | 676 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|||||||
|
|||||||
|
Related Genes
Genes most often co-reported with EXTL1 across shared curated disease and pathway associations.
2
|
|
|
Diseases Linked via Similar Genes
Diseases curated for genes most similar to EXTL1 (see Related Genes above), that are NOT already directly curated for EXTL1 itself -- a lead worth checking, not a confirmed association.
5
|
|