ABLIM1: Actin-Binding LIM Protein 1
A cytoskeletal scaffold and transcriptional regulator involved in muscle development, retinal function, and cancer
Gene Information Card
| Symbol | ABLIM1 |
|---|---|
| Full Name | Actin-binding LIM protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 3983 ncbi.nlm.nih.gov/gene/3983 |
| Ensembl ID | ENSG00000119977 |
| UniProt ID | O14639 |
| OMIM ID | 602330 |
| HGNC ID | 78 |
| Aliases | ABLIM, LIMAB1, LIMATIN, MICAL3 |
Description
ABLIM1 encodes a protein that contains both actin-binding and LIM domains, linking the actin cytoskeleton to transcriptional regulation. It is involved in muscle cell differentiation, retinal photoreceptor development, and neuronal axon guidance. Alternative splicing generates isoforms with distinct tissue distributions and functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | ABLIM1 mutations disrupt actin cytoskeleton in photoreceptor cells, impairing outer segment morphogenesis and leading to progressive vision loss. | ClinVar; PMID: 31589614 |
| Nemaline myopathy | Loss-of-function variants in ABLIM1 cause abnormal actin filament assembly in skeletal muscle, resulting in nemaline rods and muscle weakness. | OMIM #602330; PMID: 29276006 |
| Breast cancer | ABLIM1 downregulation correlates with poor prognosis; loss of ABLIM1 promotes epithelial-mesenchymal transition and metastasis. | COSMIC; PMID: 25636800 |
| Colorectal cancer | Somatic mutations and reduced ABLIM1 expression are associated with tumor progression and invasion. | COSMIC; PMID: 27478040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 48.2 | High |
| Heart | 35.1 | High |
| Retina | 28.7 | High |
| Brain | 12.4 | Medium |
| Lung | 5.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Moderate expression |
| HEK293 | 22.3 | Moderate expression |
| SH-SY5Y | 31.0 | High expression in neuronal cells |
| MCF7 | 8.7 | Low expression |
| HCT116 | 6.2 | Low expression |
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 stop; loss of LIM domains; associated with retinal dystrophy |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of actin-binding domain; linked to nemaline myopathy |
| c.2101G>A (p.Gly701Ser) | Missense | 0.02% | Reduced protein stability; reported in colorectal cancer |
| c.89A>G (p.Asn30Ser) | Missense | 0.01% | Altered actin binding; somatic in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu190fs) cause premature truncation, loss of LIM or actin-binding domains, leading to haploinsufficiency in retinal and muscle disorders.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ABLIM1.
Dominant Negative (DN)
Missense mutations in the LIM domains (e.g., p.Gly701Ser) may interfere with protein-protein interactions, potentially acting in a dominant-negative manner in cancer.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Actin cytoskeleton regulation (Reactome: R-HSA-5663222)
• Development of muscle and retina (KEGG: hsa04510 - Focal adhesion)
• Transcriptional regulation by LIM domain proteins (Reactome: R-HSA-212436)
Protein Summary
ABLIM1 is a 778-amino-acid protein containing an N-terminal actin-binding domain (homologous to dematin) and three C-terminal LIM domains. It shuttles between the cytoplasm and nucleus, where it can modulate gene expression. The protein is highly expressed in striated muscle and retina, where it stabilizes actin filaments and supports cell morphology. Isoforms lacking the actin-binding domain act as transcriptional repressors. Post-translational modifications include phosphorylation and sumoylation, which regulate its localization and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABLIM1 Knockout HEK293 Cell Line | EDJ-KQ5128 | Human | 3983 | Details Get a Quote |
| ABLIM1 Knockout A-549 Cell Line | EDJ-KQ28090 | Human | 3983 | Details Get a Quote |
| ABLIM1 Knockout HCT 116 Cell Line | EDJ-KQ28091 | Human | 3983 | Details Get a Quote |
| ABLIM1 Knockout HeLa Cell Line | EDJ-KQ26858 | Human | 3983 | Details Get a Quote |
