ABLIM3: Actin-Binding LIM Protein Family Member 3
A gene encoding a cytoskeletal scaffold protein involved in actin dynamics and cell signaling.
Gene Information Card
| Symbol | ABLIM3 |
|---|---|
| Full Name | Actin-binding LIM protein 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 22885 ncbi.nlm.nih.gov/gene/22885 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | O94929 |
| OMIM ID | 611332 |
| HGNC ID | 29162 |
| Aliases | KIAA0843, LIMAB3, LIMAB3L |
Description
ABLIM3 (actin-binding LIM protein 3) encodes a member of the ABLIM protein family, characterized by an N-terminal actin-binding domain and C-terminal LIM domains. The protein acts as a scaffold linking the actin cytoskeleton to cellular signaling pathways, influencing cell morphology, migration, and adhesion. ABLIM3 is expressed in various tissues and is implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ABLIM3 overexpression correlates with poor prognosis; may promote cell migration via actin remodeling. | PMID: 25691885 |
| Colorectal cancer | ABLIM3 upregulation associated with tumor progression and metastasis. | PMID: 27323851 |
| Schizophrenia | Genetic variants in ABLIM3 linked to increased risk in GWAS studies. | PMID: 25056061 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 6.7 | Low |
| Lung | 4.5 | Low |
| Skeletal muscle | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| MCF7 | 11.2 | Breast cancer cells |
| HepG2 | 3.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted truncation |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown significance |
| c.890_891insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ABLIM3 are predicted to cause loss of function, potentially affecting actin cytoskeleton organization.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ABLIM3.
Dominant Negative (DN)
No dominant-negative mutations have been described for ABLIM3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003779 (actin binding) | • GO:0005515 (protein binding) |
| • GO:0005737 (cytoplasm) | • GO:0015629 (actin cytoskeleton) |
| • GO:0030036 (actin cytoskeleton organization) | • GO:0051015 (actin filament binding) |
Pathways
• Actin cytoskeleton regulation (Reactome R-HSA-5663205)
• Signaling by Rho GTPases (Reactome R-HSA-194315)
Protein Summary
ABLIM3 is a 731-amino acid protein containing an N-terminal actin-binding domain (homologous to dematin) and three C-terminal LIM domains. It localizes to the cytoplasm and actin cytoskeleton, where it crosslinks actin filaments and modulates cell shape and motility. The protein interacts with other cytoskeletal components and signaling molecules, contributing to cellular processes such as adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABLIM3 Knockout HEK293 Cell Line | EDJ-KQ7716 | Human | 22885 | Details Get a Quote |
| ABLIM3 Knockout A-549 Cell Line | EDJ-KQ33121 | Human | 22885 | Details Get a Quote |
| ABLIM3 Knockout HeLa Cell Line | EDJ-KQ33123 | Human | 22885 | Details Get a Quote |
| ABLIM3 Knockout HCT 116 Cell Line | EDJ-KQ31794 | Human | 22885 | Details Get a Quote |
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