SP1
Sp1 transcription factor
Summary
The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201324612 | 12:53,775,433 | A/G | — | likely benign |
| rs370904794 | 12:53,775,509 | A/G | — | uncertain significance |
| rs35550715 | 12:53,775,974 | C/G | — | benign |
| rs202078654 | 12:53,775,976 | A/G | — | uncertain significance |
| rs747502519 | 12:53,775,999 | A/G | — | uncertain significance |
| rs1158907570 | 12:53,776,000 | C/T | — | uncertain significance |
| rs759678833 | 12:53,776,029 | C/T | — | uncertain significance |
| rs778021564 | 12:53,776,092 | A/G | — | uncertain significance |
| rs746349426 | 12:53,776,107 | A/G | — | uncertain significance |
| rs149256031 | 12:53,776,171 | A/G | — | uncertain significance |
| rs1173676781 | 12:53,776,243 | T/C | — | uncertain significance |
| rs1938129791 | 12:53,776,356 | G/C | — | uncertain significance |
| rs1469538898 | 12:53,776,411 | C/G | — | uncertain significance |
| rs1200817211 | 12:53,776,554 | G/C | — | uncertain significance |
| rs183762099 | 12:53,776,624 | C/G | — | uncertain significance |
| rs144163103 | 12:53,776,673 | A/T | — | uncertain significance |
| rs1592554584 | 12:53,776,688 | C/G | — | likely benign |
| rs770312059 | 12:53,776,699 | A/G | — | uncertain significance |
| rs539990920 | 12:53,776,708 | G/C | — | uncertain significance |
| rs768936995 | 12:53,776,722 | A/G | — | uncertain significance |
| rs1158276150 | 12:53,776,798 | C/T | — | uncertain significance |
| rs2498747212 | 12:53,776,857 | T/A | — | uncertain significance |
| rs370160300 | 12:53,776,897 | A/G | — | uncertain significance |
| rs1213669834 | 12:53,776,990 | T/C | — | uncertain significance |
| rs1283105028 | 12:53,777,086 | G/A | — | uncertain significance |
| rs767159984 | 12:53,777,159 | C/G | — | uncertain significance |
| rs758847746 | 12:53,777,188 | C/A | — | uncertain significance |
| rs370699625 | 12:53,777,190 | A/G | — | uncertain significance |
| rs1938154453 | 12:53,777,194 | A/G | — | uncertain significance |
| rs114382555 | 12:53,777,318 | C/A | — | benign |
| rs2446066 | 12:53,778,650 | G/T | intron variant | — |
| rs10876448 | 12:53,779,321 | A/C | — | — |
| rs7298225 | 12:53,780,724 | G/T | — | — |
| rs9739640 | 12:53,783,174 | A/T | — | — |
| rs9738393 | 12:53,783,176 | C/A | intron variant | — |
| rs12818938 | 12:53,783,182 | T/A | — | — |
| rs11170530 | 12:53,786,385 | C/T | intron variant | — |
| rs138952514 | 12:53,791,171 | G/A | intron variant | — |
| rs74090765 | 12:53,792,914 | T/A | — | — |
| rs11170538 | 12:53,796,744 | T/G | — | — |
| rs2947337 | 12:53,796,998 | G/C | — | — |
| rs149625987 | 12:53,800,369 | G/A | — | uncertain significance |
| rs760084342 | 12:53,800,446 | G/A | — | uncertain significance |
| rs79205721 | 12:53,801,115 | A/G | — | — |
| rs144134358 | 12:53,803,151 | C/T | — | uncertain significance |
| rs374193831 | 12:53,803,152 | G/A | — | likely benign |
| rs375923944 | 12:53,804,948 | G/A | — | uncertain significance |
| rs757135735 | 12:53,804,969 | A/G | — | uncertain significance |
| rs139620478 | 12:53,804,970 | C/T | — | benign |
| rs145573092 | 12:53,805,021 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.