CRIPT Gene Summary [Human]
This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]
Details
| Type | Processed Transcript |
| Official Symbol | CRIPT |
| Official Name | CXXC repeat containing interactor of PDZ3 domain [Source:HGNC Symbol;Acc:HGNC:14312] |
| Ensembl ID | ENSG00000119878 |
| Bio databases IDs | |
| Aliases | CXXC repeat containing interactor of PDZ3 domain |
| Synonyms | 1200020A08Rik, CXXC repeat containing interactor of PDZ3 domain, cysteine-rich PDZ-binding protein, HSPC139, LOC100506155, RTS3, SSMDF |
| 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 CRIPT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- microtubule binding
- binding protein
- protein binding
- Microtubule-associated protein CRIPT
- PDZ-domain binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- short stature with microcephaly and distinctive facies
- metabolic syndrome X
- isolated growth hormone deficiency type Ia
- hypertensive renal disease
regulated by
- calcitriol
role in cell
- binding
- organization
- assembly
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
- glutaminergic synapse
- organelle
- dendritic spines
- perikaryon
- dendrites
- postsynaptic density
- dendritic shafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CRIPT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- establishment of protein localization
- RNA splicing
- protein localization to microtubule
- cytoplasmic microtubule organization
- mRNA processing
Cellular Component
Where in the cell the gene product is active
- dendrite
- postsynaptic density
- cytoplasm
- dendritic shaft
- dendritic spine
- spliceosomal complex
- neuronal cell body
Molecular Function
What the gene product does at the molecular level
- scaffold protein binding
- protein binding
- PDZ domain binding
- microtubule binding