Full Name: Coiled-Coil Domain Containing 157
Chromosome: 6p21.1
NCBI Gene ID: 124935
OMIM ID: 618104
Ensembl ID: ENSG00000160801
UniProt ID: Q8N7H5
CCDC157 (Coiled-Coil Domain Containing 157) is a protein-coding gene located on chromosome 6p21.1. While initially characterized in the context of cellular architecture and organelle organization, emerging research suggests potential roles in neuronal systems that may be relevant to neurodegenerative diseases 1.
¶ Gene Structure and Protein
The CCDC157 gene encodes a protein containing multiple coiled-coil domains, which are structural motifs important for protein-protein interactions. The protein is predicted to localize to various cellular compartments, including the cytoskeleton and potentially the nuclear envelope 2.
¶ Protein Domains
- Coiled-coil domains: Multiple predicted coiled-coil regions mediate homotypic and heterotypic protein interactions
- Nuclear localization signals: Potential NLS sequences suggest possible nuclear function
- Post-translational modifications: Predicted phosphorylation and glycosylation sites
CCDC157 is expressed in various tissues with notable expression in:
- Brain: Detected in multiple brain regions including cortex, hippocampus, and cerebellum
- Endocrine tissues: High expression in pituitary and thyroid glands
- Epithelial tissues: Moderate expression in lung and intestinal epithelia
¶ Function and Pathway Involvement
- Cytoskeletal organization: Coiled-coil domain proteins often participate in cytoskeletal dynamics and intracellular transport
- Protein complex assembly: May serve as scaffolding for multi-protein complexes
- Organelle positioning: Potential role in positioning cellular organelles
While direct evidence linking CCDC157 to neurodegeneration is limited, several observations suggest potential relevance:
- Synaptic function: Expression in neuronal tissues suggests possible roles in synaptic plasticity
- Protein homeostasis: Coiled-coil proteins can be involved in protein quality control mechanisms
- Cellular stress response: May participate in responses to oxidative stress and proteotoxic stress
Current evidence does not strongly associate CCDC157 with specific neurodegenerative diseases, but several observations warrant investigation:
- Alzheimer's Disease (AD): Gene expression studies have shown subtle alterations in CCDC157 expression in AD brain tissue 3
- Parkinson's Disease (PD): May show altered expression in PD substantia nigra
- Amyotrophic Lateral Sclerosis (ALS): Expression changes observed in motor neuron disease
- Cancer: Altered expression in various cancers including colorectal and lung cancers
- Endocrine disorders: Potential involvement in pituitary function
Due to the limited understanding of CCDC157 function in neurodegeneration, therapeutic targeting remains speculative:
- Biomarker potential: CCDC157 expression could serve as a biomarker for certain disease states
- Drug target: Further research needed to validate as therapeutic target
- Gene therapy: Not currently considered a viable target
- RNA sequencing: Transcriptome analysis in disease vs. control tissues
- Proteomics: Protein interaction studies to identify binding partners
- Immunohistochemistry: Spatial expression analysis in brain tissue
- CRISPR screens: Functional genomics to identify disease-relevant pathways