CRISP1
cysteine rich secretory protein 1
Summary
Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs189643556 | 6:49,803,042 | G/A | — | uncertain significance |
| rs768758510 | 6:49,803,067 | A/T | — | uncertain significance |
| rs373924464 | 6:49,803,145 | T/C | — | uncertain significance |
| rs375349467 | 6:49,806,195 | C/T | — | uncertain significance |
| rs749780934 | 6:49,806,210 | G/T | — | uncertain significance |
| rs372119257 | 6:49,808,630 | C/G | — | uncertain significance |
| rs267601065 | 6:49,808,641 | C/T | — | likely benign |
| rs1283881259 | 6:49,808,662 | C/G | — | uncertain significance |
| rs143504230 | 6:49,808,680 | C/T | — | uncertain significance |
| rs769037389 | 6:49,808,705 | C/A | — | uncertain significance |
| rs1379961541 | 6:49,814,273 | G/C | — | uncertain significance |
| rs1324205357 | 6:49,814,285 | T/C | — | uncertain significance |
| rs147586663 | 6:49,814,294 | C/T | — | uncertain significance |
| rs2533387518 | 6:49,814,297 | G/C | — | uncertain significance |
| rs201964072 | 6:49,814,306 | C/A | — | uncertain significance |
| rs780945700 | 6:49,814,372 | C/G | — | uncertain significance |
| rs143712708 | 6:49,815,932 | C/T | — | likely benign |
| rs1433620876 | 6:49,815,969 | T/C | — | likely benign |
| rs762286966 | 6:49,815,985 | C/T | — | uncertain significance |
| rs150372078 | 6:49,815,997 | C/T | — | uncertain significance |
| rs151127841 | 6:49,819,725 | T/C | — | uncertain significance |
| rs150253145 | 6:49,819,776 | C/A | — | uncertain significance |
| rs187785377 | 6:49,819,809 | C/T | — | uncertain significance |
| rs762528316 | 6:49,819,829 | C/G | — | uncertain significance |
| rs754801425 | 6:49,819,838 | T/C | — | uncertain significance |
| rs138699394 | 6:49,819,840 | C/A | — | uncertain significance |
| rs558227464 | 6:49,837,074 | G/T | — | — |
| rs563440460 | 6:49,843,503 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.