PDLIM3 Gene Summary [Human]
The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | PDLIM3 |
| Official Name | PDZ and LIM domain 3 [Source:HGNC Symbol;Acc:HGNC:20767] |
| Ensembl ID | ENSG00000154553 |
| Bio databases IDs | |
| Aliases | PDZ and LIM domain 3 |
| Synonyms | actinin α 2 associated lim, Actn2lp, ALP, PDZ and LIM domain 3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDLIM3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF4749)
- Domain present in PSD-95, Dlg, and ZO-1/2
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- actinin binding
- canonical PDZ domain
- central domain
- protein binding
- PDZ domain
- cytoskeletal protein binding
- structural constituent of muscle
- ZASP-like motif
- cpPDZ_Deg_HtrA-like
- cpPDZ_RseP_YlbL-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- endometriosis
- dilated cardiomyopathy
- preeclampsia
- hypertrophic cardiomyopathy
- uterine serous papillary cancer
- metastatic colorectal cancer
- overall survival
- progression free survival
role in cell
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoskeleton
- actin cytoskeleton
- actin filaments
- cytosol
- intercalated disks
- Z line
- actin stress fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDLIM3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- muscle structure development
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- Z disc
- adherens junction
- stress fiber
- cytosol
- filamentous actin
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- metal ion binding
- muscle alpha-actinin binding