SEMG1
semenogelin 1
Summary
The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20. [provided by RefSeq, Feb 2016]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1444085665 | 20:43,835,759 | T/C | — | uncertain significance |
| rs764393817 | 20:43,836,036 | C/T | — | uncertain significance |
| rs2515488801 | 20:43,836,126 | T/C | — | uncertain significance |
| rs369245912 | 20:43,836,128 | T/C | — | uncertain significance |
| rs375412058 | 20:43,836,132 | T/C | — | uncertain significance |
| rs139077132 | 20:43,836,156 | C/T | — | uncertain significance |
| rs1385113241 | 20:43,836,182 | A/C | — | uncertain significance |
| rs986772241 | 20:43,836,203 | G/A | — | uncertain significance |
| rs937656991 | 20:43,836,273 | A/G | — | uncertain significance |
| rs1983727800 | 20:43,836,276 | G/A | — | uncertain significance |
| rs772467076 | 20:43,836,285 | A/G | — | uncertain significance |
| rs752629107 | 20:43,836,333 | G/A | — | uncertain significance |
| rs749075922 | 20:43,836,338 | A/C | — | likely benign |
| rs775577796 | 20:43,836,381 | A/C | — | uncertain significance |
| rs2515489412 | 20:43,836,452 | A/C | — | uncertain significance |
| rs113377758 | 20:43,836,503 | G/A | — | uncertain significance |
| rs751792588 | 20:43,836,572 | A/G | — | uncertain significance |
| rs1037444037 | 20:43,836,576 | C/T | — | uncertain significance |
| rs756699012 | 20:43,836,585 | A/G | — | uncertain significance |
| rs373203554 | 20:43,836,627 | A/T | — | uncertain significance |
| rs150179367 | 20:43,836,634 | T/A | — | uncertain significance |
| rs746230945 | 20:43,836,693 | A/G | — | uncertain significance |
| rs1363572017 | 20:43,836,742 | C/G | — | uncertain significance |
| rs753925778 | 20:43,836,770 | C/G | — | likely benign |
| rs780856879 | 20:43,836,796 | A/G | — | uncertain significance |
| rs186005484 | 20:43,836,965 | G/A | — | uncertain significance |
| rs763681729 | 20:43,836,966 | C/T | — | uncertain significance |
| rs142315536 | 20:43,836,978 | C/T | — | uncertain significance |
| rs145941667 | 20:43,836,996 | C/T | — | uncertain significance |
| rs139732745 | 20:43,837,005 | G/A | — | uncertain significance |
| rs751003980 | 20:43,837,136 | G/A | — | uncertain significance |
| rs776076348 | 20:43,837,181 | C/G | — | uncertain significance |
| rs745966110 | 20:43,837,245 | T/C | — | uncertain significance |
| rs773831989 | 20:43,837,280 | C/T | — | uncertain significance |
| rs759104817 | 20:43,837,286 | G/A | — | likely benign |
| rs778909642 | 20:43,837,306 | C/G | — | uncertain significance |
| rs184534879 | 20:43,838,637 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.