HUWE1
Summary: This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300697 Ensembl IDEnsembl:ENSG00000086758 HGNC IDHGNC:HGNC:30892 PHARMGKB IDPA128394567 Map LocationXp11.22 | |||||
GO terms in HUWE1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005634 | nucleus |
| CC | ISS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
Gene expression in normal tissue: HUWE1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HUWE1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| netpath | Pathway_EGFR1 | EGFR1 |
| pid | myc_activpathway | Validated targets of C-MYC transcriptional activation |
| pid | p53regulationpathway | p53 pathway |
| kegg | hsa04120 | Ubiquitin mediated proteolysis - Homo sapiens (human) |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-168249 | Innate Immune System |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HUWE1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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