ANKRD20A1: Ankyrin Repeat Domain 20 Family Member A1
A primate-specific gene encoding a protein with ankyrin repeats, implicated in nuclear functions and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | ANKRD20A1 |
|---|---|
| Full Name | Ankyrin Repeat Domain 20 Family Member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.11 |
| NCBI Gene ID | 441027 ncbi.nlm.nih.gov/gene/441027 |
| Ensembl ID | ENSG00000188984 |
| UniProt ID | Q5TYM5 |
| OMIM ID | 617474 |
| HGNC ID | 37241 |
| Aliases | ANKRD20A, dJ1033B10.3 |
Description
ANKRD20A1 is a protein-coding gene located on chromosome 9q21.11. It belongs to the ankyrin repeat domain 20 family and encodes a protein containing multiple ankyrin repeats, which are common motifs mediating protein-protein interactions. The gene is primate-specific and thought to be involved in nuclear processes, including transcriptional regulation and chromatin organization. Expression data suggest roles in testis and certain cancer cell lines, with potential implications in developmental disorders and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental disorders (e.g., intellectual disability) | Disruption of ANKRD20A1 may affect nuclear protein interactions, leading to altered gene expression during development. | ClinVar: pathogenic/likely pathogenic variants reported in individuals with developmental delay. |
| Cancer (e.g., breast, lung) | Overexpression or copy number alterations may contribute to oncogenesis via dysregulation of cell cycle or apoptosis. | COSMIC: somatic mutations and copy number gains observed in multiple cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 3.2 | Low |
| Lung | 1.8 | Low |
| Breast | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 (embryonic kidney) | 8.4 | Moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
| A549 (lung cancer) | 1.5 | Low expression |
| K562 (leukemia) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
| c.567G>A (p.Gly189Arg) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| Copy number gain (9q21.11) | CNV | Variable | Amplification observed in breast and lung cancers (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay are predicted to cause loss of function, potentially contributing to developmental phenotypes.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression in cancer may suggest a possible oncogenic role, but evidence is limited.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for ANKRD20A1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005634 (nucleus) |
| • GO:0046872 (metal ion binding) |
Pathways
• No specific pathways curated in major databases; predicted involvement in protein-protein interaction networks via ankyrin repeats.
Protein Summary
The ANKRD20A1 protein (UniProt Q5TYM5) contains multiple ankyrin repeat domains, which are 33-residue motifs that mediate protein-protein interactions. It is localized to the nucleus and may function in transcriptional regulation or chromatin remodeling. The protein is primate-specific and its exact biological role remains under investigation, though expression in testis and cancer cell lines suggests involvement in spermatogenesis and tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD20A1 Knockout HEK293 Cell Line | EDJ-KQ51816 | Human | 84210 | Details Get a Quote |
| ANKRD20A1 Knockout HeLa Cell Line | EDJ-KQ57548 | Human | 84210 | Details Get a Quote |
| ANKRD20A1 Knockout A-549 Cell Line | EDJ-KQ66045 | Human | 84210 | Details Get a Quote |
| ANKRD20A1 Knockout HCT 116 Cell Line | EDJ-KQ74470 | Human | 84210 | Details Get a Quote |
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