ANKLE1
Ankyrin Repeat and LEM Domain Containing 1
Gene Information Card
| Symbol | ANKLE1 |
|---|---|
| Full Name | Ankyrin Repeat and LEM Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 126549 ncbi.nlm.nih.gov/gene/126549 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q5T9S5 |
| OMIM ID | 611641 |
| HGNC ID | 26752 |
| Aliases | LEM3, ANKLE1, C19orf42 |
Description
ANKLE1 encodes a protein containing an N-terminal LEM (LAP2-emerin-MAN1) domain and C-terminal ankyrin repeats. The LEM domain mediates binding to barrier-to-autointegration factor (BAF) and chromatin, implicating ANKLE1 in nuclear envelope organization, chromatin dynamics, and DNA repair. The protein is localized to the nuclear envelope and is involved in response to DNA damage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential role in DNA repair deficiency; altered expression observed in tumor tissues | COSMIC; NCBI Gene |
| Ovarian cancer | Somatic mutations and copy number alterations reported | COSMIC |
| Colorectal cancer | Mutations identified in sequencing studies | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Breast | 4.3 | Low |
| Ovary | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney; moderate expression |
| HeLa | 10.5 | Cervical carcinoma; moderate expression |
| MCF7 | 7.8 | Breast cancer; low expression |
| K562 | 5.2 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | 0.002% (gnomAD) | Unknown functional impact |
| c.1234delC (p.Leu412Trpfs*5) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, likely disrupting LEM domain or ankyrin repeats.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential if mutant protein interferes with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005635 ~ nuclear envelope | • GO:0003682 ~ chromatin binding |
| • GO:0006974 ~ DNA damage response | • GO:0042393 ~ histone binding |
Pathways
• DNA damage response (Reactome: R-HSA-73894)
• Chromatin organization (Reactome: R-HSA-4839726)
Protein Summary
The ANKLE1 protein (UniProt Q5T9S5) is 612 amino acids long with a molecular weight of ~68 kDa. It contains an N-terminal LEM domain (residues 1–50) that binds BAF and chromatin, and C-terminal ankyrin repeats (residues 400–600) mediating protein-protein interactions. The protein localizes to the nuclear envelope and is implicated in chromatin tethering and DNA repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKLE1 Knockout HEK293 Cell Line | EDJ-KQ3304 | Human | 126549 | Details Get a Quote |
| ANKLE1 Knockout HCT 116 Cell Line | EDJ-KQ24891 | Human | 126549 | Details Get a Quote |
| ANKLE1 Knockout HeLa Cell Line | EDJ-KQ24892 | Human | 126549 | Details Get a Quote |
| ANKLE1 Knockout A-549 Cell Line | EDJ-KQ66669 | Human | 126549 | Details Get a Quote |
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