ANKMY1: Ankyrin Repeat and MYND Domain Containing 1
A zinc finger protein involved in transcriptional regulation and potential tumor suppression.
Gene Information Card
| Symbol | ANKMY1 |
|---|---|
| Full Name | Ankyrin Repeat and MYND Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 51232 ncbi.nlm.nih.gov/gene/51232 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q9P2S5 |
| OMIM ID | 612634 |
| HGNC ID | 21074 |
| Aliases | ZMYND20, FLJ10858 |
Description
ANKMY1 encodes a protein containing ankyrin repeats and a MYND-type zinc finger domain. The MYND domain is a zinc-binding motif involved in protein-protein interactions and transcriptional repression. ANKMY1 is thought to function as a transcriptional regulator, potentially acting as a tumor suppressor. It is ubiquitously expressed with higher levels in testis and certain immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential tumor suppressor; loss of expression may contribute to oncogenesis. | NCBI Gene, UniProt |
| Not specified | No direct disease association established. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.1 | Medium |
| Spleen | 9.8 | Medium |
| Bone marrow | 8.5 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney |
| K562 | 9.0 | Leukemia |
| HeLa | 7.8 | Cervical cancer |
| HepG2 | 6.1 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown; rare variant |
| c.1450G>A (p.Gly484Ser) | Missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
Not established; potential loss of transcriptional repression.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003676 (nucleic acid binding) | • GO:0008270 (zinc ion binding) |
| • GO:0005634 (nucleus) | • GO:0006355 (regulation of transcription |
| • DNA-templated) | • GO:0046872 (metal ion binding) |
Pathways
• Not assigned to any specific pathway in Reactome or KEGG.
Protein Summary
The ANKMY1 protein (UniProt Q9P2S5) contains an N-terminal ankyrin repeat domain and a C-terminal MYND zinc finger domain. Ankyrin repeats mediate protein-protein interactions, while the MYND domain is characteristic of transcriptional corepressors. The protein localizes to the nucleus and is predicted to bind DNA and zinc ions. Its exact biological role remains under investigation, but it is implicated in transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKMY1 Knockout HEK293 Cell Line | EDJ-KQ11012 | Human | 51281 | Details Get a Quote |
| ANKMY1 Knockout A-549 Cell Line | EDJ-KQ37585 | Human | 51281 | Details Get a Quote |
| ANKMY1 Knockout HCT 116 Cell Line | EDJ-KQ38888 | Human | 51281 | Details Get a Quote |
| ANKMY1 Knockout HeLa Cell Line | EDJ-KQ38889 | Human | 51281 | Details Get a Quote |
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