HERC1 Gene Summary [Human]
This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | HERC1 |
| Official Name | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 [Source:HGNC Symbol;Acc:HGNC:4867] |
| Ensembl ID | ENSG00000103657 |
| Bio databases IDs | |
| Aliases | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
| Synonyms | 2810449H11RIK, B230218H07, D130015N03Rik, HECT and RLD domain containing E3 ubiquitin protein ligase family member 1, MDFPMR, p532, p619, tbl |
| 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 HERC1 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
- Regulator of chromosome condensation (RCC1) repeat
- HECTc
- WD40 repeats
- SPRY domain
- guanyl-nucleotide exchange factor
- chromosome condensation 1-like domain
- Domain Homologous to E6-AP Carboxyl Terminus with
- WD domain, G-beta repeat
- WD40
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- COVID-19
- metabolic syndrome X
- macrocephaly, dysmorphic facies, and psychomotor retardation
- non-insulin-dependent diabetes mellitus
- lung cancer
- depressive disorder
- hereditary disorder
- neuroticism
- major depression
role in cell
- apoptosis
- expression in
- invasion by
- degradation in
- proliferation
- morphogenesis
- number
- differentiation
- autophagy by
- killing
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane fractions
- perinuclear region
- Golgi Apparatus
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HERC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cerebellar Purkinje cell differentiation
- neuron projection development
- autophagy
- negative regulation of autophagy
- neuromuscular process controlling balance
- protein ubiquitination
- corpus callosum development
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- guanyl-nucleotide exchange factor activity