ASB17 Gene - Ankyrin Repeat and SOCS Box Containing 17
Comprehensive genomic and proteomic analysis of ASB17, a member of the ASB family involved in ubiquitination and protein degradation.
Gene Information Card
| Symbol | ASB17 |
|---|---|
| Full Name | Ankyrin Repeat and SOCS Box Containing 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 127687 ncbi.nlm.nih.gov/gene/127687 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N7X0 |
| OMIM ID | 615105 |
| HGNC ID | 19775 |
| Aliases | FLJ32421, MGC35130 |
Description
ASB17 (ankyrin repeat and SOCS box containing 17) is a protein-coding gene located on chromosome 1p35.1. It encodes a member of the ankyrin repeat and SOCS box (ASB) family. ASB proteins function as substrate recognition subunits of E3 ubiquitin ligase complexes, targeting specific proteins for ubiquitination and subsequent proteasomal degradation. ASB17 is expressed in various tissues and may play a role in cellular signaling and protein homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 10.1 | Low expression |
| K562 | 7.8 | Low expression |
| A549 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin-protein transferase activity (GO:0004842) |
| • protein polyubiquitination (GO:0000209) | • protein ubiquitination (GO:0016567) |
| • cytosol (GO:0005829) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
The ASB17 protein contains an N-terminal ankyrin repeat domain and a C-terminal SOCS box domain. The ankyrin repeats mediate substrate recognition, while the SOCS box recruits the E3 ubiquitin ligase complex (including elongin B, elongin C, cullin-5, and Rbx2). This complex ubiquitinates target proteins, marking them for degradation by the proteasome. ASB17 is predicted to be involved in the regulation of various cellular processes through targeted protein turnover.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASB17 Knockout HEK293 Cell Line | EDJ-KQ3131 | Human | 127247 | Details Get a Quote |
| ASB17 Knockout HeLa Cell Line | EDJ-KQ58203 | Human | 127247 | Details Get a Quote |
| ASB17 Knockout A-549 Cell Line | EDJ-KQ66692 | Human | 127247 | Details Get a Quote |
| ASB17 Knockout HCT 116 Cell Line | EDJ-KQ75106 | Human | 127247 | Details Get a Quote |
