ANKRD1 Gene Summary [Human]
The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ANKRD1 |
| Official Name | ankyrin repeat domain 1 [Source:HGNC Symbol;Acc:HGNC:15819] |
| Ensembl ID | ENSG00000148677 |
| Bio databases IDs | |
| Aliases | ankyrin repeat domain 1 |
| Synonyms | ALRP, ankyrin repeat domain 1, bA320F15.2, C-193, Cardiac Ankyrin Repeat, CARP, Crap, CVARP, LOC102552909, MARP, MARP1, MCARP |
| 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 ANKRD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- transcription regulator
- Ankyrin repeats (many copies)
- transcription co-activator
- transcription co-repressor
- transcription cofactor
- Ankyrin repeats (3 copies)
- transcription factor binding
- histone deacetylase binding
- p53 binding
- protein binding
- DNA binding
- Ankyrin repeat
- cytoskeletal protein binding
- actin binding
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital heart disease
- lung adenocarcinoma
- lung adenocarcinoma formation
- dilated cardiomyopathy
- dermatomyositis
- hypertrophic cardiomyopathy
role in cell
- expression in
- apoptosis
- cell viability
- differentiation
- response
- development
- colony formation
- response by
- contraction
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
- fibrillar center
- perinuclear region
- Nucleus
- sarcomere
- cytosol
- nucleoplasm
- myofibrils
- I band
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANKRD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein kinase C signaling cascade
- positive regulation of DNA damage response, signal transduction by p53 class mediator
- sarcomere organization
- regulation of transcription from RNA polymerase II promoter
- cellular response to transforming growth factor beta stimulus
- cellular response to mechanical stimulus
- cellular response to lipopolysaccharide
- negative regulation of transcription, DNA-dependent
- skeletal muscle cell differentiation
- positive regulation of transcription, DNA-dependent
- positive regulation of apoptotic process
- cellular response to interleukin-1
- cellular response to xenobiotic stimulus
- cellular response to tumor necrosis factor
- positive regulation of protein secretion
- response to muscle stretch
- cardiac muscle tissue morphogenesis
- negative regulation of DNA biosynthetic process
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- cytoplasm
- I band
- cytosol
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- p53 binding
- protein binding
- transcription coactivator activity
- histone deacetylase binding
- transcription corepressor activity
- R-SMAD binding
- titin binding