SREBF1

sterol regulatory element binding transcription factor 1

Summary

This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]

Known Variants102 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1186803517:17,715,101G/Aregulatory region variant—
rs229750817:17,715,317C/Gregulatory region variant—
rs119037466417:17,715,973A/C—uncertain significance
rs203304356317:17,716,127C/T—uncertain significance
rs75737775217:17,716,153T/C—uncertain significance
rs11497894717:17,716,175C/T—benign
rs147447746117:17,716,687T/C—uncertain significance
rs53084318217:17,716,694C/T—uncertain significance
rs56448308317:17,716,705C/T—uncertain significance
rs14760393717:17,716,709G/A—uncertain significance
rs14211502617:17,716,759G/A—uncertain significance
rs78175540317:17,716,888G/A—uncertain significance
rs123385897517:17,716,900G/A—uncertain significance
rs86707241217:17,716,918G/A—uncertain significance
rs132554623517:17,716,948C/T—uncertain significance
rs76152550717:17,716,951G/T—uncertain significance
rs115686457017:17,717,001G/A—uncertain significance
rs75763401017:17,717,007G/A—uncertain significance
rs55365462617:17,717,025T/C—benign
rs77393832117:17,717,585T/G—uncertain significance
rs37151892017:17,717,615T/C—uncertain significance
rs95280736217:17,717,954G/A—likely benign
rs77368759417:17,717,978G/A—uncertain significance
rs90907085517:17,717,980T/C—uncertain significance
rs57688602817:17,717,983G/A—likely benign
rs20109000617:17,718,059C/T—conflicting classifications of pathogenicity
rs103370951917:17,718,155T/C—uncertain significance
rs75660359017:17,718,164T/C—uncertain significance
rs254373134217:17,718,194G/A—uncertain significance
rs76898911717:17,718,202G/A—uncertain significance
rs14148927817:17,718,592C/T—likely benign
rs78158147517:17,718,610C/T—uncertain significance
rs36951327617:17,718,626C/A—uncertain significance
rs254374686117:17,719,235A/T—uncertain significance
rs76956416517:17,719,270G/A—uncertain significance
rs37126309217:17,719,342G/A—uncertain significance
rs130732081717:17,719,538C/A—uncertain significance
rs77869068617:17,719,573G/A—uncertain significance
rs11666066517:17,719,607C/T—uncertain significance
rs115843211517:17,719,787G/A—likely benign
rs19977567017:17,719,848G/A—conflicting classifications of pathogenicity
rs14762606617:17,719,876G/A—uncertain significance
rs203361538117:17,719,897C/T—uncertain significance
rs76611999717:17,719,902A/T—uncertain significance
rs15119537217:17,719,905C/T—uncertain significance
rs159811724417:17,719,994G/A—likely benign
rs14764283417:17,720,300C/A—uncertain significance
rs77509222817:17,720,382C/T—uncertain significance
rs222959117:17,720,391A/G—benign
rs203368828417:17,720,587A/G—pathogenic
rs15030007217:17,720,591C/T—likely benign
rs142862152517:17,720,596C/T—likely pathogenic
rs203369034717:17,720,597G/A—pathogenic
rs14578409117:17,720,605C/G—uncertain significance
rs254377060517:17,720,703G/C—uncertain significance
rs77833567717:17,720,723G/A—uncertain significance
rs75972728117:17,720,752G/A—uncertain significance
rs76753600417:17,720,755C/T—uncertain significance
rs54573644217:17,720,756G/A—uncertain significance
rs13897909717:17,721,063C/T—uncertain significance
rs254377608717:17,721,066T/C—uncertain significance
rs14939734817:17,721,095G/C—uncertain significance
rs254377680217:17,721,125G/T—uncertain significance
rs222959017:17,721,165C/T—benign
rs19966045717:17,721,189T/C—uncertain significance
rs117200247117:17,721,206G/C—uncertain significance
rs76444289617:17,721,668C/T—likely benign
rs214301520617:17,722,356T/G—uncertain significance
rs254379339117:17,722,380T/C—uncertain significance
rs7452062317:17,722,503C/T—benign
rs11601438717:17,722,645C/T—uncertain significance
rs77200360717:17,722,755G/T—uncertain significance
rs203392584517:17,722,881T/C—uncertain significance
rs7093701917:17,722,886G/A—benign
rs135254971117:17,722,967A/C—uncertain significance
rs11400163317:17,722,973G/A—likely benign
rs159812418017:17,723,018T/C—uncertain significance
rs75283602917:17,723,025T/G—uncertain significance
rs116408820917:17,723,411G/C—uncertain significance
rs74572386317:17,723,428T/C—uncertain significance
rs5606165917:17,723,463G/A—uncertain significance
rs52954353417:17,723,470C/T—conflicting classifications of pathogenicity
rs87961702917:17,723,502C/T—uncertain significance
rs11585523617:17,723,595G/A—conflicting classifications of pathogenicity
rs148091950717:17,723,637A/G—uncertain significance
rs14959943717:17,723,649G/A—uncertain significance
rs254381241317:17,723,690C/A—uncertain significance
rs52755788317:17,723,733T/A—uncertain significance
rs78171298617:17,723,734C/T—uncertain significance
rs37318334617:17,723,757C/T—uncertain significance
rs18738249017:17,723,766C/T—uncertain significance
rs1165666517:17,724,789G/Aintron variant—
rs1293692717:17,726,965C/G——
rs989963417:17,727,943T/Aintron variant—
rs989425717:17,732,319C/Tintron variant—
rs990294117:17,733,760C/Tintron variant—
rs188901817:17,734,740G/Aintron variant—
rs1293850117:17,737,258A/Cintron variant—
rs56509893117:17,739,726A/C——
rs104523957517:17,740,040C/G—likely pathogenic

Showing 100 of 102 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.