ANKFY1 Gene Summary [Human]
This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | ANKFY1 |
| Official Name | ankyrin repeat and FYVE domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20763] |
| Ensembl ID | ENSG00000185722 |
| Bio databases IDs | |
| Aliases | ankyrin repeat and FYVE domain containing 1, rabankyrin-5 |
| Synonyms | ANKHZN, ankyrin repeat and FYVE domain containing 1, BTBD23, mKIAA1255, rabankyrin 5, ZFYVE14 |
| 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 ANKFY1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FYVE zinc finger
- transcription regulator
- Ankyrin repeats (many copies)
- BTB_POZ
- Ankyrin repeats (3 copies)
- enzyme binding
- protein binding
- BACK (BTB and C-terminal Kelch) domain
- phosphatidylinositol binding
- Ankyrin repeat
- FYVE domain like superfamily
- Broad-Complex, Tramtrack and Bric a brac
- Protein present in Fab1, YOTB, Vac1, and EEA1
- BTB/POZ domain
- PHD finger superfamily
- ankyrin repeats
Pathways
Biological processes and signaling networks where the ANKFY1 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
- schizophrenia
- non-insulin-dependent diabetes mellitus
regulates
role in cell
- formation
- transport
- pinocytosis by
- ruffling
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
- cellular membrane
- Plasma Membrane
- endosomes
- cytosol
- endosomal membrane
- early endosomes
- macropinosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANKFY1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosomal transport
- endosomal vesicle fusion
- retrograde transport, endosome to Golgi
- Golgi to lysosome transport
- endocytosis
- positive regulation of pinocytosis
Cellular Component
Where in the cell the gene product is active
- early endosome
- extracellular vesicular exosome
- endosome
- intracellular membrane-bounded organelle
- retromer complex
- membrane
- macropinosome
- cytosol
- endosome membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- small GTPase binding