ANKFY1
Ankyrin Repeat and FYVE Domain Containing 1
Gene Information Card
| Symbol | ANKFY1 |
|---|---|
| Full Name | Ankyrin Repeat and FYVE Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 51479 ncbi.nlm.nih.gov/gene/51479 |
| Ensembl ID | ENSG00000185811 |
| UniProt ID | Q9P2R3 |
| OMIM ID | 607818 |
| HGNC ID | 20763 |
| Aliases | ANKFY, ANKHZN, KIAA1255, ZFYVE14 |
Description
ANKFY1 encodes a protein containing ankyrin repeats and a FYVE zinc finger domain. The protein localizes to early endosomes and is involved in endosomal trafficking and signaling. It may play a role in autophagy and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 6.5 | Medium |
| Liver | 4.1 | Low |
| Kidney | 5.3 | Medium |
| Testis | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.1 | High |
| HeLa | 7.4 | Medium |
| K562 | 6.0 | Medium |
| A549 | 5.5 | Medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.567_568del (p.Glu190fs) | Frameshift | <0.001% (gnomAD) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift variants predicted to cause nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endosome | • FYVE zinc finger domain |
| • ankyrin repeat | • protein binding |
| • intracellular protein transport | • early endosome membrane |
Pathways
• Endosomal trafficking
• Autophagy
Protein Summary
The ANKFY1 protein (UniProt Q9P2R3) is 1,089 amino acids long and contains an N-terminal ankyrin repeat domain and a C-terminal FYVE domain. It is involved in endosomal membrane dynamics and may regulate signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKFY1 Knockout HEK293 Cell Line | EDJ-KQ11110 | Human | 51479 | Details Get a Quote |
| ANKFY1 Knockout A-549 Cell Line | EDJ-KQ39074 | Human | 51479 | Details Get a Quote |
| ANKFY1 Knockout HCT 116 Cell Line | EDJ-KQ39075 | Human | 51479 | Details Get a Quote |
| ANKFY1 Knockout HeLa Cell Line | EDJ-KQ39076 | Human | 51479 | Details Get a Quote |
