Aebp1 Gene Summary [Mouse]
Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity and carboxypeptidase activity. Acts upstream of or within regulation of DNA-templated transcription. Located in extracellular space. Is expressed in several structures, including alimentary system; cardiovascular system; embryo mesenchyme; genitourinary system; and skeleton. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome classic-like 2. Orthologous to human AEBP1 (AE binding protein 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Aebp1 |
| Official Name | AE binding protein 1 [Source:MGI Symbol;Acc:MGI:1197012] |
| Ensembl ID | ENSMUSG00000020473 |
| Bio databases IDs | |
| Aliases | AE binding protein 1 |
| Synonyms | ACLP, AE binding protein 1 |
| 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 Aebp1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- carboxypeptidase
- Zn_pept domain
- Coagulation factor 5/8 C-terminal domain, discoidin domain
- DNA binding domain
- nucleic acid binding
- peptidase
- M14 family of metallocarboxypeptidases and related proteins
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- Zinc carboxypeptidase
- double-stranded DNA binding
- F5/8 type C domain
- collagen binding
- Peptidase_M14NE-CP-C_like
- FA58C
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- adenoma formation
- head and neck neuroendocrine neoplasia
- Huntington disease
- non-insulin-dependent diabetes mellitus
- classical-like Ehlers-Danlos syndrome 2
- pervasive developmental disorder
- glioblastoma
- glioblastoma cancer
- organismal death
role in cell
- expression in
- phosphorylation in
- proliferation
- organization
- abnormal morphology
- transition
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- membrane compartment
- microsome
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Aebp1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- peptide metabolic process
- regulation of transcription, DNA-dependent
- protein processing
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- extracellular vesicular exosome
- cytoplasm
- extracellular region
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- calmodulin binding
- collagen binding
- metallocarboxypeptidase activity
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- extracellular matrix structural constituent