CRELD1 Gene Summary [Human]
This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Details
| Type | Retained Intron |
| Official Symbol | CRELD1 |
| Official Name | cysteine rich with EGF like domains 1 [Source:HGNC Symbol;Acc:HGNC:14630] |
| Ensembl ID | ENSG00000163703 |
| Bio databases IDs | |
| Aliases | cysteine rich with EGF like domains 1 |
| Synonyms | AVSD2, CIRRIN, cysteine-rich with EGF-like domains 1, i11E7, JELANS |
| 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 CRELD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FU
- Furin-like repeats
- protein binding
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- susceptibility to atrioventricular septal defect type 2
- hereditary disorder
- Jeffries-Lakhani neurodevelopmental syndrome
- multiple types congenital heart defects type 4
- congenital heart disease
- colon cancer
- partial atrioventricular septal defect with heterotaxy syndrome
- ventricular septal defect type 1
role in cell
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- cellular membrane
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CRELD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endocardial cushion development
- cardiac septum development
Cellular Component
Where in the cell the gene product is active
- membrane
Molecular Function
What the gene product does at the molecular level
- protein disulfide isomerase activity
- protein binding
- calcium ion binding
- extracellular matrix structural constituent