CCDC88C Gene Summary [Human]
This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | CCDC88C |
| Official Name | coiled-coil domain containing 88C [Source:HGNC Symbol;Acc:HGNC:19967] |
| Ensembl ID | ENSG00000015133 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 88C, Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40 |
| Synonyms | 0610010D24Rik, AW324073, coiled-coil domain containing 88C, DAPLE, HKRP2, HYC1, KIAA1509, LOC217831, mKIAA1509, RGD1307429, SCA40 |
| 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 CCDC88C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Hook domain-containing proteins superfamily
- protein dimerization
- Autophagy protein 16 (ATG16)
- Ciliary protein causing Leber congenital amaurosis disease
- frizzled binding
- Uncharacterized conserved protein H4 (DUF2046)
- Synaptonemal complex protein 1 (SCP-1)
- Autophagy protein ATG17-like domain
- helix-rich Mycoplasma protein
- Tektin family
- identical protein binding
- Laminin Domain I
- chromosome segregation protein SMC, common bacterial type
- Prefoldin subunit
- Tropomyosin
- Myosin-like coiled-coil protein
- Treacher Collins syndrome protein Treacle
- HOOK protein coiled-coil region
- Mitotic checkpoint protein
- Crescentin protein
- chromosome segregation protein SMC, primarily archaeal type
- Domain of unknown function (DUF4515)
- exonuclease SbcC
- TPR/MLP1/MLP2-like protein
- Weak chloroplast movement under blue light
- Tropomyosin like
- Hyaluronan mediated motility receptor N-terminal
- rad50
- HOOK domain
- Myosin tail
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- PDZ-domain binding
- Alpha helical coiled-coil rod protein (HCR)
- RecF/RecN/SMC N terminal domain
- microtubule binding
- Mechanosensitive ion channel porin domain
- RIM-binding protein of the cytomatrix active zone
- prefoldin
- guanyl-nucleotide exchange factor
- Growth-arrest specific micro-tubule binding
- Coiled-coil domain-containing protein 158
- Intermediate filament protein
- GBA motif
- Septation ring formation regulator, EzrA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- prostatic carcinoma
- prostate cancer
- epithelial cancer
- breast carcinoma
- autosomal recessive nonsyndromic hydrocephalus type 1
- hereditary spastic ataxia
- ovarian carcinoma
- epithelial ovarian cancer
- diabetic nephropathy
role in cell
- growth
- phosphorylation in
- transcription in
- differentiation
- formation
- development
- movement
- depolymerization
- organization
- binding in
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
- cell junction
- intercellular junctions
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCDC88C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein destabilization
- negative regulation of canonical Wnt receptor signaling pathway
- cytoskeleton-dependent intracellular transport
- small GTPase mediated signal transduction
- regulation of protein phosphorylation
- positive regulation of JNK cascade
- apical constriction
- cytoplasmic microtubule organization
- non-canonical Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- centrosome
- anchoring junction
- cytoplasm
- cell junction
Molecular Function
What the gene product does at the molecular level
- frizzled binding
- identical protein binding
- protein binding
- G-protein alpha-subunit binding
- guanyl-nucleotide exchange factor activity
- PDZ domain binding
- dynein light intermediate chain binding
- microtubule binding