CSRP3 Gene Summary [Human]
This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CSRP3 |
| Official Name | cysteine and glycine rich protein 3 [Source:HGNC Symbol;Acc:HGNC:2472] |
| Ensembl ID | ENSG00000129170 |
| Bio databases IDs | |
| Aliases | cysteine and glycine rich protein 3, cardiac LIM protein, muscle LIM protein |
| Synonyms | CLP, CMD1M, CMH12, CRP3, cysteine and glycine-rich protein 3, LMO4, MLP, MMLP, Muscle LIM |
| 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 CSRP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytoskeletal protein binding
- structural constituent of muscle
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- actinin binding
- transcription factor binding
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- oral squamous cell carcinoma
- heart failure
- dilated cardiomyopathy
- familial hypertrophic cardiomyopathy type 12
- interstitial fibrosis
- metastasis
- hypertrophic cardiomyopathy
- primary dilated cardiomyopathy
- limb-girdle muscular dystrophy type 2A
- congestive heart failure
role in cell
- expression in
- differentiation
- organization
- hypertrophy
- abnormal morphology
- severing
- function
- assembly
- homeostasis in
- tubulation
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
- cytoskeleton
- Cytoplasm
- perinuclear region
- actin cytoskeleton
- sarcomere
- cytosol
- nucleoplasm
- myofibrils
- I band
- m-bands
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CSRP3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle cell homeostasis
- T-tubule organization
- protein kinase C signaling cascade
- insulin receptor signaling pathway
- sarcomere organization
- muscle tissue development
- positive regulation of transcription from RNA polymerase II promoter
- cardiac muscle contraction
- cardiac muscle tissue development
- cardiac muscle hypertrophy
- cellular calcium ion homeostasis
- regulation of the force of heart contraction
- inflammatory response
- skeletal muscle tissue development
- glucose homeostasis
- cardiac myofibril assembly
- protein localization to organelle
- detection of muscle stretch
Cellular Component
Where in the cell the gene product is active
- Z disc
- nucleus
- cytoskeleton
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- structural constituent of muscle
- actin binding
- metal ion binding
- actinin binding
- telethonin binding