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.

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 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
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