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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2177487 | 2:48,761,430 | C/G | intron variant | — |
| rs74179092 | 2:48,791,795 | T/C | — | — |
| rs13010692 | 2:48,800,667 | T/A | — | — |
| rs188314488 | 2:48,802,898 | G/T | upstream gene variant | — |
| rs765085882 | 2:48,807,948 | G/A | — | uncertain significance |
| rs72824125 | 2:48,808,125 | G/T | — | benign |
| rs2529272710 | 2:48,809,333 | T/C | — | uncertain significance |
| rs758514131 | 2:48,818,933 | G/T | — | uncertain significance |
| rs749832371 | 2:48,822,397 | G/A | — | uncertain significance |
| rs3749146 | 2:48,824,501 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.