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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase | MIM:300697 | Ensembl:ENSG00000086758 | HGNC:HGNC:30892 | PA128394567 | Xp11.22 |
GO terms in HUWE1
| 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 |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | HDA | GO:0016020 | membrane |
| CC | TAS | GO:0034774 | secretory granule lumen |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:1904813 | ficolin-1-rich granule lumen |
| BP | IBA | GO:0000209 | protein polyubiquitination |
| BP | IDA | GO:0000209 | protein polyubiquitination |
| BP | TAS | GO:0000209 | protein polyubiquitination |
| BP | IBA | GO:0006284 | base-excision repair |
| BP | IMP | GO:0006284 | base-excision repair |
| BP | IDA | GO:0006513 | protein monoubiquitination |
| BP | IBA | GO:0016567 | protein ubiquitination |
| BP | IDA | GO:0016574 | histone ubiquitination |
| BP | IEA | GO:0030154 | cell differentiation |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | HMP | GO:1903955 | positive regulation of protein targeting to mitochondrion |
| MF | ISS | GO:0003677 | DNA binding |
| MF | HDA | GO:0003723 | RNA binding |
| MF | EXP | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IDA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | TAS | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0061630 | ubiquitin protein ligase activity |
Gene expression in normal tissue: HUWE1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HUWE1
| 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 |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| reactome | R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HUWE1
CLASSFICATION
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