AKNAD1
AKNA domain containing 1
Gene Information Card
| Symbol | AKNAD1 |
|---|---|
| Full Name | AKNA domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 254268 ncbi.nlm.nih.gov/gene/254268 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N7X0 |
| OMIM ID | - |
| HGNC ID | 26749 |
| Aliases | FLJ32709, MGC131891 |
Description
AKNAD1 (AKNA domain containing 1) is a protein-coding gene located on chromosome 1p36.33. The encoded protein contains an AKNA domain, which is a conserved motif found in proteins involved in transcriptional regulation and chromatin remodeling. AKNAD1 is expressed in various tissues, with highest levels in testis and brain. Its precise biological function remains under investigation, but it may play a role in cell cycle control and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in OMIM or ClinVar | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 4.1 | Low |
| Liver | 2.3 | Low |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 8.5 | Low expression |
| K562 | 6.2 | Low expression |
| MCF7 | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | - | - | - |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function variants characterized.
Gain of Function (GOF)
No gain-of-function variants characterized.
Dominant Negative (DN)
No dominant-negative variants characterized.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • protein binding |
| • chromatin binding |
Protein Summary
The AKNAD1 protein (UniProt Q8N7X0) is 1,034 amino acids long and contains an AKNA domain. It is predicted to localize to the nucleus and may function in transcriptional regulation. No crystal structure is available. Post-translational modifications include phosphorylation sites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKNAD1 Knockout HEK293 Cell Line | EDJ-KQ11763 | Human | 254268 | Details Get a Quote |
| AKNAD1 Knockout A-549 Cell Line | EDJ-KQ40154 | Human | 254268 | Details Get a Quote |
| AKNAD1 Knockout HCT 116 Cell Line | EDJ-KQ38894 | Human | 254268 | Details Get a Quote |
| AKNAD1 Knockout HeLa Cell Line | EDJ-KQ59255 | Human | 254268 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
