ABLIM3 Gene Summary [Human]
This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]
Details
| Type | Protein Coding |
| Official Symbol | ABLIM3 |
| Official Name | actin binding LIM protein family member 3 [Source:HGNC Symbol;Acc:HGNC:29132] |
| Ensembl ID | ENSG00000173210 |
| Bio databases IDs | |
| Aliases | actin binding LIM protein family member 3 |
| Synonyms | actin binding LIM protein family member 3, actin binding LIM protein family, member 3, AW990719, D930036B08RIK, HMFN1661, KIAA0843, RGD1565118 |
| 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 ABLIM3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- Villin headpiece domain
- protein binding
- Putative adherens-junction anchoring region of AbLIM
Pathways
Biological processes and signaling networks where the ABLIM3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- age-related hearing loss
- Klinefelter syndrome
- open-angle glaucoma
- pemphigus vulgaris
- chronic obstructive pulmonary disease
- Turner syndrome
- retinopathy
- hearing loss
regulates
- DNA promoter
- RNA polymerase II
- DNA endogenous promoter
- TAGLN
role in cell
- replication in
- assembly
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
- glutaminergic synapse
- synapse
- actin stress fibers
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABLIM3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cytoskeleton organization
- cilium morphogenesis
- lamellipodium assembly
- transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- stress fiber
- actin cytoskeleton
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- metal ion binding