CRISPLD1 Gene - Cysteine-Rich Secretory Protein LCCL Domain Containing 1
Comprehensive gene card for CRISPLD1, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CRISPLD1 |
|---|---|
| Full Name | cysteine-rich secretory protein LCCL domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 83690 ncbi.nlm.nih.gov/gene/83690 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9H0B8 |
| OMIM ID | 612088 |
| HGNC ID | 25548 |
| Aliases | CRISP11, LCRISP, dJ281H8.1 |
Description
CRISPLD1 (cysteine-rich secretory protein LCCL domain containing 1) is a protein-coding gene located on chromosome 8q12.1. It encodes a member of the cysteine-rich secretory protein (CRISP) family, characterized by an N-terminal CAP domain and a C-terminal LCCL domain. The protein is involved in extracellular matrix organization and immune modulation. CRISPLD1 has been implicated in developmental processes and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Orofacial cleft (non-syndromic) | CRISPLD1 variants may disrupt extracellular matrix signaling during palatogenesis, leading to cleft lip/palate. | Association reported in genetic studies (OMIM #612088). |
| Lung cancer | Altered CRISPLD1 expression may contribute to tumor progression through modulation of the extracellular environment. | Expression changes observed in COSMIC and literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Salivary gland | 10.2 | Medium |
| Thyroid | 8.1 | Low |
| Testis | 6.4 | Low |
| Adipose tissue | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 7.2 | Low expression |
| MCF7 (breast adenocarcinoma) | 4.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Likely benign; no disease association |
| c.1234_1235insA | Frameshift | <0.01% | Predicted loss-of-function; rare in population |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular matrix organization (GO:0030020) |
| • innate immune response (GO:0045087) | • extracellular space (GO:0005615) |
Pathways
• Extracellular matrix organization (Reactome R-HSA-1474244)
• Innate immune system (Reactome R-HSA-168249)
Protein Summary
The CRISPLD1 protein (UniProt Q9H0B8) is a secreted cysteine-rich protein containing an N-terminal CAP domain and a C-terminal LCCL domain. It is involved in extracellular matrix organization and modulation of immune responses. The protein is expressed in lung, salivary gland, and other tissues. Structural studies suggest it may interact with glycosaminoglycans and other matrix components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRISPLD1 Knockout HEK293 Cell Line | EDJ-KQ9887 | Human | 83690 | Details Get a Quote |
| CRISPLD1 Knockout A-549 Cell Line | EDJ-KQ36768 | Human | 83690 | Details Get a Quote |
| CRISPLD1 Knockout HeLa Cell Line | EDJ-KQ36769 | Human | 83690 | Details Get a Quote |
| CRISPLD1 Knockout HCT 116 Cell Line | EDJ-KQ74391 | Human | 83690 | Details Get a Quote |
