CRELD1 Gene: Cysteine-Rich with EGF-Like Domains 1
A critical gene in atrioventricular septal defect and cellular adhesion signaling
Gene Information Card
| Symbol | CRELD1 |
|---|---|
| Full Name | Cysteine-Rich with EGF-Like Domains 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 78987 ncbi.nlm.nih.gov/gene/78987 |
| Ensembl ID | ENSG00000163788 |
| UniProt ID | Q96HD1 |
| OMIM ID | 607170 |
| HGNC ID | 14629 |
| Aliases | AVSD2, CIRRIN, CRELD-1 |
Description
CRELD1 encodes a cysteine-rich protein containing EGF-like domains, involved in cell adhesion and receptor signaling. It is essential for normal cardiac development, particularly the formation of the atrioventricular septum. Mutations in CRELD1 are associated with atrioventricular septal defect (AVSD) and may contribute to heterotaxy syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atrioventricular septal defect (AVSD) | Loss-of-function or missense mutations disrupt cell adhesion and signaling during cardiac septation | ClinVar, OMIM #607170 |
| Heterotaxy syndrome | CRELD1 variants may impair left-right axis determination, leading to visceral malrotation | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Placenta | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.0 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H9c2 (rat cardiomyoblasts) | 15.3 | High expression in cardiac model |
| HEK293 | 7.2 | Moderate expression |
| HeLa | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | Rare | Reduced protein stability; associated with AVSD |
| c.556G>A (p.Gly186Arg) | Missense | Rare | Impaired cell adhesion; AVSD |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of translation initiation; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce protein stability or disrupt EGF-like domain function, impairing cell adhesion and cardiac septation.
Gain of Function (GOF)
No evidence of gain-of-function mutations in CRELD1.
Dominant Negative (DN)
Some missense variants (e.g., p.Gly186Arg) may act in a dominant-negative manner by interfering with wild-type protein interactions.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • calcium ion binding (GO:0005509) |
| • plasma membrane (GO:0005886) | • extracellular space (GO:0005615) |
| • atrial septum development (GO:0003281) |
Pathways
• Cell adhesion molecules (CAMs)
• Integrin signaling pathway (inferred)
Protein Summary
CRELD1 is a 420-amino acid transmembrane protein with two N-terminal EGF-like domains and a cysteine-rich region. It localizes to the plasma membrane and extracellular space, mediating cell-cell adhesion and calcium-dependent signaling. The protein is highly expressed in developing heart tissues and is critical for atrioventricular septal morphogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRELD1 Knockout HEK293 Cell Line | EDJ-KQ13002 | Human | 78987 | Details Get a Quote |
| CRELD1 Knockout A-549 Cell Line | EDJ-KQ42261 | Human | 78987 | Details Get a Quote |
| CRELD1 Knockout HCT 116 Cell Line | EDJ-KQ42262 | Human | 78987 | Details Get a Quote |
| CRELD1 Knockout HeLa Cell Line | EDJ-KQ42263 | Human | 78987 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
