ANKRD27 Gene Summary [Human]
Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in endosome; lysosome; and plasma membrane. Implicated in eosinophilic esophagitis. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ANKRD27 |
| Official Name | ankyrin repeat domain 27 [Source:HGNC Symbol;Acc:HGNC:25310] |
| Ensembl ID | ENSG00000105186 |
| Bio databases IDs | |
| Aliases | ankyrin repeat domain 27, Vps9 domain and ankyrin-repeat-containing protein |
| Synonyms | AA408090, ankyrin repeat domain 27, D330003H11Rik, LOC100912309, PP12899, VARP |
| 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 ANKRD27 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SNARE binding
- Ankyrin repeats (many copies)
- VPS9p domain
- guanyl-nucleotide exchange factor
- Vacuolar sorting protein 9 (VPS9) domain
- Ankyrin repeats (3 copies)
- enzyme binding
- protein binding
- ANKRD27_zf
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- neoplasia
- non-small cell lung cancer
- pancreatic epithelial cancer
- schizophrenia
- systemic lupus erythematosus
- major depression
- colorectal carcinomagenesis
- eosinophilic esophagitis
- colorectal carcinoma
role in cell
- expression in
- proliferation
- formation
- formation in
- extension
- development
- morphogenesis
- extension in
- enlargement in
- molecular cleavage 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.
- Cytoplasm
- intracellular membrane-bounded organelle
- perinuclear region
- Plasma Membrane
- lysosome
- membrane compartment
- cytosol
- neurites
- recycling endosomes
- early endosomes
- late endosomes
- transport vesicles
- melanosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANKRD27 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transport
- early endosome to late endosome transport
- endosome to melanosome transport
- neuron projection morphogenesis
- positive regulation of neuron projection development
- negative regulation of SNARE complex assembly
- positive regulation of dendrite morphogenesis
- endocytic recycling
Cellular Component
Where in the cell the gene product is active
- early endosome
- cytoplasmic vesicle membrane
- melanosome
- intracellular membrane-bounded organelle
- membrane
- late endosome
- cytosol
- transport vesicle
- neuron projection
- plasma membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity
- guanyl-nucleotide exchange factor activity
- small GTPase binding
- SNARE binding