ASB7: Ankyrin Repeat and SOCS Box Containing 7
A member of the ASB family involved in ubiquitination and protein degradation, with emerging roles in cellular signaling and disease.
Gene Information Card
| Symbol | ASB7 |
|---|---|
| Full Name | Ankyrin Repeat and SOCS Box Containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 140460 ncbi.nlm.nih.gov/gene/140460 |
| Ensembl ID | ENSG00000183150 |
| UniProt ID | Q8N6M0 |
| OMIM ID | 615937 |
| HGNC ID | 17182 |
| Aliases | ASB-7, FLJ20006 |
Description
ASB7 (Ankyrin Repeat and SOCS Box Containing 7) is a protein-coding gene that encodes a member of the ankyrin repeat and SOCS box-containing (ASB) family. The protein contains an N-terminal ankyrin repeat domain and a C-terminal SOCS (suppressor of cytokine signaling) box, which mediates interaction with the elongin B/C complex, facilitating ubiquitination and proteasomal degradation of target proteins. ASB7 is involved in various cellular processes including signal transduction, cell cycle regulation, and protein turnover.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of ASB7 expression may alter ubiquitination of key signaling proteins, affecting cell proliferation and survival. | NCBI Gene, UniProt |
| Colorectal cancer | ASB7 overexpression has been observed in colorectal tumors, potentially promoting oncogenic signaling. | COSMIC, PubMed (limited) |
| Hepatocellular carcinoma | Altered ASB7 expression linked to tumor progression and poor prognosis. | COSMIC, PubMed (limited) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Spleen | 6.1 | Low |
| Lung | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney, moderate expression |
| K562 | 7.5 | Leukemia cell line |
| HepG2 | 5.9 | Hepatocellular carcinoma |
| A549 | 4.3 | Lung carcinoma |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown; rare variant in population databases |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin-protein transferase activity (GO:0004842) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Cytokine signaling in immune system (Reactome: R-HSA-1280215)
Protein Summary
The ASB7 protein (UniProt Q8N6M0) is 539 amino acids long and contains multiple ankyrin repeats (typically 5-6) at the N-terminus and a SOCS box at the C-terminus. The ankyrin repeats mediate substrate recognition, while the SOCS box recruits the elongin B/C complex, which in turn recruits a cullin-RING E3 ubiquitin ligase complex. This enables ASB7 to function as a substrate-specific adapter for ubiquitination and subsequent proteasomal degradation. The protein is predominantly localized in the cytoplasm and nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASB7 Knockout HEK293 Cell Line | EDJ-KQ9764 | Human | 140460 | Details Get a Quote |
| ASB7 Knockout A-549 Cell Line | EDJ-KQ35377 | Human | 140460 | Details Get a Quote |
| ASB7 Knockout HCT 116 Cell Line | EDJ-KQ36596 | Human | 140460 | Details Get a Quote |
| ASB7 Knockout HeLa Cell Line | EDJ-KQ36597 | Human | 140460 | Details Get a Quote |