Specc1l Gene Summary [Mouse]
Enables beta-catenin binding activity. Acts upstream of or within several processes, including anterior neural tube closure; negative regulation of protein depolymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cell-cell junction; cytoplasm; and cytoskeleton. Part of filamentous actin. Is expressed in 1st branchial arch maxillary component; branchial arch; eye; fronto-nasal process; and limb. Used to study Teebi hypertelorism syndrome 1 and cleft palate. Human ortholog(s) of this gene implicated in Teebi hypertelorism syndrome 1 and oblique facial clefting 1. Orthologous to human SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Specc1l |
| Official Name | sperm antigen with calponin homology and coiled-coil domains 1-like [Source:MGI Symbol;Acc:MGI:1921642] |
| Ensembl ID | ENSMUSG00000033444 |
| Bio databases IDs | |
| Aliases | sperm antigen with calponin homology and coiled-coil domains 1-like |
| Synonyms | 4930470P14Rik, 4932439K10Rik, 9530057A13Rik, CYTSA, GBBB2, LOC102546441, mKIAA0376, OBLFC1, OGS2, RGD1309570, sperm antigen with calponin homology and coiled-coil domains 1-like, TBHS, TBHS1 |
| Species | Mouse, Mus musculus |
| 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 mouse Specc1l often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Prefoldin subunit
- Actin interacting protein 3
- Calponin homology domain
- Uncharacterized conserved protein H4 (DUF2046)
- prefoldin
- beta-catenin binding
- Growth-arrest specific micro-tubule binding
- calponin homology (CH) domain superfamily
- protein binding
- Intermediate filament protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Teebi type hypertelorism
- coronary artery disease
- Kawasaki disease
- hereditary disorder
- myocardial infarction
- mental retardation
- Opitz GBBB syndrome type II
- oblique facial clefting type 1
- acne
- SPECC1L syndrome
role in cell
- organization
- adhesion
- depolymerization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- microtubule cytoskeleton
- Cytoplasm
- actin cytoskeleton
- actin filaments
- intercellular junctions
- microtubule organizing centers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Specc1l gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- cell adhesion
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- gap junction
- microtubule organizing center
- cytoplasm
- actin cytoskeleton
- spindle
- filamentous actin
Molecular Function
What the gene product does at the molecular level
- protein binding