EXTL1
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 involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| exostosin like glycosyltransferase 1 | MIM:601738 | Ensembl:ENSG00000158008 | HGNC:HGNC:3515 | PA27927 | 1p36.11 |
GO terms in EXTL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0050508 | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| BP | TAS | GO:0001501 | skeletal system development |
| BP | IEA | GO:0006486 | protein glycosylation |
| BP | TAS | GO:0036498 | IRE1-mediated unfolded protein response |
Gene expression in normal tissue: EXTL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EXTL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP3472 | XBP1(S) activates chaperone genes |
| humancyc | PWY-6558 | heparan sulfate biosynthesis (late stages) |
| humancyc | PWY-6564 | heparan sulfate biosynthesis |
| kegg | hsa00534 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin - Homo sapiens (human) |
| reactome | R-HSA-381038 | XBP1(S) activates chaperone genes |
| reactome | R-HSA-381070 | IRE1alpha activates chaperones |
| reactome | R-HSA-381119 | Unfolded Protein Response (UPR) |
| reactome | R-HSA-392499 | Metabolism of proteins |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EXTL1
CLASSFICATION
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