STON1

stonin 1

Summary

Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

Known Variants10 total

rsidPosition (GRCh37)AllelesClassClinVar
rs21774872:48,761,430C/Gintron variant
rs741790922:48,791,795T/C
rs130106922:48,800,667T/A
rs1883144882:48,802,898G/Tupstream gene variant
rs7650858822:48,807,948G/Auncertain significance
rs728241252:48,808,125G/Tbenign
rs25292727102:48,809,333T/Cuncertain significance
rs7585141312:48,818,933G/Tuncertain significance
rs7498323712:48,822,397G/Auncertain significance
rs37491462:48,824,501C/Tintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.