STON1 - stonin 1 Gene
Also Known as SALF; SBLF; STN1; STNB1
Species: Homo sapiens
About STON1
This gene has 5 transcripts (splice variants), 196 orthologues and 7 paralogues. Broad expression in endometrium (RPKM 13.8), ovary (RPKM 13.3) and 21 other tissues.
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]
STON1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001198595.2 | NP_001185524.1 | stonin-1 |
| NM_006873.4 | NP_006864.2 | stonin-1 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in regulation of endocytosis |
IDA
IDA: Inferred from direct assay
|
11454741 | GOA |
STON1 Protein Structure
Adap_comp_sub: Adaptor complexes medium subunit family (402 - 711)
- 0
- 200
- 400
- 600
- 735 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
stonin-1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Bardet-Biedl Syndrome 9 |
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| Peliosis Hepatis |
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| Trichomoniasis |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | STON1 | MGD | MGI:1924307 |
| Rattus norvegicus | STON1 | RGD | RGD:727878 |
| Felis catus | STON1 | VGNC | VGNC:108170 |
| Bos taurus | STON1 | VGNC | VGNC:108169 |