CRISP1 (Cysteine-Rich Secretory Protein 1)
A key male reproductive tract protein involved in sperm-egg fusion and fertilization.
Gene Information Card
| Symbol | CRISP1 |
|---|---|
| Full Name | Cysteine-Rich Secretory Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 1672 ncbi.nlm.nih.gov/gene/1672 |
| Ensembl ID | ENSG00000124812 |
| UniProt ID | P54107 |
| OMIM ID | 601183 |
| HGNC ID | 2363 |
| Aliases | AEG, CRISP-1, DE, AEG1 |
Description
CRISP1 encodes a cysteine-rich secretory protein predominantly expressed in the male reproductive tract, specifically in the epididymis. The protein is secreted into the seminal fluid and binds to the sperm surface, playing a critical role in sperm-egg fusion during fertilization. It belongs to the CRISP family, characterized by a conserved cysteine-rich domain. CRISP1 is also involved in the regulation of ion channels and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (sperm-egg fusion defects) | Loss of CRISP1 function impairs sperm binding and fusion with the oolemma, leading to fertilization failure. | ClinVar, OMIM |
| Asthenozoospermia | Reduced CRISP1 expression correlates with decreased sperm motility and abnormal sperm morphology. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Epididymis | 35.1 | High |
| Prostate | 2.3 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.1 | Not expressed |
| HEK293 | 0.2 | Not expressed |
| NT2/D1 (testicular embryonal carcinoma) | 12.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.220C>T (p.Arg74Cys) | Missense | <0.01% | Potential loss of disulfide bond integrity; functional impact unknown |
| c.389G>A (p.Arg130Gln) | Missense | <0.01% | Reported in ClinVar as variant of uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense mutations disrupting the cysteine-rich domain may impair protein folding and secretion, reducing sperm-egg fusion capacity.
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)
| • single fertilization (GO:0007339) | • single fertilization (GO:0007338) |
| • axon (GO:0030424) | • extracellular region (GO:0005576) |
| • protein binding (GO:0005515) | • lipid binding (GO:0008289) |
Pathways
• Fertilization (Reactome: R-HSA-1187000)
• Sperm-egg fusion (KEGG: hsa04950)
Protein Summary
CRISP1 is a 249-amino acid secreted protein with a molecular weight of approximately 28 kDa. It contains a CAP (cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1) domain and a C-terminal cysteine-rich domain (CRD). The protein is synthesized in the epididymis and binds to the sperm surface during maturation. Upon capacitation, CRISP1 relocalizes to the equatorial segment, where it mediates fusion with the egg plasma membrane. It also exhibits ion channel regulatory activity, particularly for calcium and potassium channels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRISP1 Knockout HEK293 Cell Line | EDJ-KQ4019 | Human | 167 | Details Get a Quote |
| CRISP1 Knockout HeLa Cell Line | EDJ-KQ52576 | Human | 167 | Details Get a Quote |
| CRISP1 Knockout A-549 Cell Line | EDJ-KQ61054 | Human | 167 | Details Get a Quote |
| CRISP1 Knockout HCT 116 Cell Line | EDJ-KQ69534 | Human | 167 | Details Get a Quote |
