HS3ST3B1
heparan sulfate-glucosamine 3-sulfotransferase 3B1
Summary
The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375731568 | 17:14,204,840 | G/T | — | uncertain significance |
| rs1325257609 | 17:14,204,852 | G/C | — | uncertain significance |
| rs761996975 | 17:14,204,857 | G/C | — | uncertain significance |
| rs201721482 | 17:14,204,868 | C/T | — | benign |
| rs200257944 | 17:14,204,888 | T/A | — | benign |
| rs2508619319 | 17:14,204,935 | G/C | — | uncertain significance |
| rs2508619394 | 17:14,204,950 | A/G | — | uncertain significance |
| rs201733731 | 17:14,205,004 | G/T | — | uncertain significance |
| rs955090977 | 17:14,205,070 | A/T | — | uncertain significance |
| rs548961010 | 17:14,205,095 | G/C | — | uncertain significance |
| rs776720048 | 17:14,205,107 | G/T | — | uncertain significance |
| rs764461174 | 17:14,205,146 | T/C | — | uncertain significance |
| rs200811372 | 17:14,205,163 | A/T | — | uncertain significance |
| rs1488494177 | 17:14,205,167 | C/G | — | uncertain significance |
| rs62636622 | 17:14,205,168 | G/A | — | benign |
| rs759162056 | 17:14,205,233 | G/A | — | uncertain significance |
| rs766428499 | 17:14,205,256 | A/G | — | uncertain significance |
| rs1394158501 | 17:14,205,302 | T/G | — | uncertain significance |
| rs1475341036 | 17:14,205,354 | C/G | — | uncertain significance |
| rs142400460 | 17:14,227,924 | G/A | upstream gene variant | — |
| rs12453663 | 17:14,233,989 | A/T | regulatory region variant | — |
| rs534437455 | 17:14,234,350 | C/T | — | — |
| rs1910508552 | 17:14,248,397 | A/G | — | uncertain significance |
| rs749725954 | 17:14,248,413 | G/C | — | uncertain significance |
| rs1319273912 | 17:14,248,523 | C/G | — | uncertain significance |
| rs895445824 | 17:14,248,529 | G/A | — | uncertain significance |
| rs2508675261 | 17:14,248,692 | T/C | — | uncertain significance |
| rs777450804 | 17:14,248,748 | A/T | — | uncertain significance |
| rs2508675545 | 17:14,248,777 | C/A | — | uncertain significance |
| rs753498928 | 17:14,248,895 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.