ANKEF1 Gene - Ankyrin Repeat and EF-Hand Domain Containing 1
Comprehensive genomic and functional analysis of ANKEF1
Gene Information Card
| Symbol | ANKEF1 |
|---|---|
| Full Name | ankyrin repeat and EF-hand domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 154214 ncbi.nlm.nih.gov/gene/154214 |
| Ensembl ID | ENSG00000125869 |
| UniProt ID | Q5VY09 |
| OMIM ID | 617579 |
| HGNC ID | 26767 |
| Aliases | FLJ32709, MGC16384 |
Description
ANKEF1 encodes a protein containing ankyrin repeats and EF-hand domains, suggesting a role in calcium binding and protein-protein interactions. The gene is located on chromosome 20p13 and is expressed in various tissues. Its precise biological function remains under investigation, but it may be involved in cellular signaling and structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Brain | 5.8 | Low |
| Heart | 3.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.4 | Moderate expression |
| HeLa | 6.1 | Low expression |
| K562 | 2.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • protein binding |
| • ankyrin repeat binding |
Pathways
• No curated pathways available
Protein Summary
The ANKEF1 protein (UniProt Q5VY09) contains multiple ankyrin repeats and a C-terminal EF-hand domain, indicative of calcium-binding and scaffolding functions. It is predicted to localize to the cytoplasm and may participate in signal transduction or cytoskeletal organization. Structural studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKEF1 Knockout HEK293 Cell Line | EDJ-KQ12348 | Human | 63926 | Details Get a Quote |
| ANKEF1 Knockout A-549 Cell Line | EDJ-KQ41198 | Human | 63926 | Details Get a Quote |
| ANKEF1 Knockout HCT 116 Cell Line | EDJ-KQ41199 | Human | 63926 | Details Get a Quote |
| ANKEF1 Knockout HeLa Cell Line | EDJ-KQ41200 | Human | 63926 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
