ST3GAL1
ST3 beta-galactoside alpha-2,3-sialyltransferase 1
Summary
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1377708649 | 8:134,472,015 | C/T | — | uncertain significance |
| rs2538298908 | 8:134,472,020 | A/C | — | uncertain significance |
| rs1023081364 | 8:134,472,056 | G/A | — | uncertain significance |
| rs760504998 | 8:134,472,081 | C/T | — | uncertain significance |
| rs772036212 | 8:134,472,116 | G/A | — | uncertain significance |
| rs2538304987 | 8:134,474,135 | T/A | — | likely benign |
| rs2538305011 | 8:134,474,141 | A/G | — | uncertain significance |
| rs1048479 | 8:134,474,148 | C/T | synonymous variant | — |
| rs2736871 | 8:134,475,077 | G/A | intron variant | — |
| rs117461712 | 8:134,475,710 | T/C | — | likely benign |
| rs1189767362 | 8:134,477,039 | G/A | — | uncertain significance |
| rs2130922111 | 8:134,477,109 | C/T | — | uncertain significance |
| rs112787936 | 8:134,478,178 | A/G | — | benign |
| rs113350588 | 8:134,487,983 | G/A | synonymous variant | — |
| rs151164719 | 8:134,487,996 | G/A | missense variant | — |
| rs142100792 | 8:134,487,997 | C/T | — | benign |
| rs376880755 | 8:134,488,075 | T/C | — | likely benign |
| rs74421799 | 8:134,488,076 | G/A | — | benign |
| rs369048744 | 8:134,488,174 | T/C | — | uncertain significance |
| rs756052198 | 8:134,488,191 | A/C | — | uncertain significance |
| rs373146178 | 8:134,488,264 | C/T | — | uncertain significance |
| rs11783413 | 8:134,549,705 | C/T | — | — |
| rs6984151 | 8:134,578,347 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.