HUWE1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HUWE1 |
| Official Name | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:HGNC:30892] |
| Ensembl ID | ENSG00000086758 |
| Bio databases IDs | |
| Aliases | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
| Synonyms | 5430439H10Rik, ARF-BP1, C430014N20RIK, C80292, Gm1718, HECTH9, HECT, UBA and WWE domain containing 1, HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1, HSPC272, Ib772, LASU1, MRXSBWB, MRXST, MULE, URE-B1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HUWE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UBA domain-like superfamily
- transcription regulator
- ubiquitin protein ligase activity
- Domain Homologous to E6-AP Carboxyl Terminus with
- Ubiquitin binding region
- WWE domain
- enzyme
- protein binding
- DNA binding
- HECTc
- Domain of Unknown Function (DUF908)
- Domain in Deltex and TRIP12 homologues
- Bcl-2 homology 3 domain
- ubiquitin-protein transferase activity
- Domain of Unknown Function (DUF913)
Pathways
Biological processes and signaling networks where the HUWE1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- hepatic steatosis
- non-insulin-dependent diabetes mellitus
- diabetes mellitus
- intrauterine growth retardation
- non-small cell lung cancer
- plasma cell myeloma
- epithelial cancer
- lung carcinoma
- lung carcinoma process
role in cell
- differentiation
- proliferation
- apoptosis
- migration
- cell death
- expression in
- activation in
- accumulation in
- growth
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- detergent resistant lipid raft fraction
- secretory granule lumen
- ficolin-1-rich granule lumen
- Cytoplasm
- Extracellular Space
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HUWE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane fusion
- chromatin remodeling
- circadian regulation of gene expression
- base-excision repair
- negative regulation of mitochondrial fusion
- protein polyubiquitination
- Golgi organization
- positive regulation of protein ubiquitination
- cell differentiation
- protein monoubiquitination
- ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- cytoplasm
- membrane
- mitochondrion
- cytosol
- secretory granule lumen
- Golgi membrane
- extracellular region
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- DNA binding
- protein binding
- RNA binding