Entrez gene ID | | 11037 |
Official gene symbol | | STON1 |
Full name | | stonin 1 |
Aliases | | ,DKFZp781K2462,FLJ95267,MGC149803,MGC149804,SBLF,STN1,STNB1,stoned-b1, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2p16.3 |
Gene position | | 48807763 - 48826045 Map Viewer |
Gene orientation | | plus |
Gene size | | 18283 bp |
Gene sequence |
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OMIM ID | | 605357 |
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